A1BG 19 58345178 58353499 N . N N -0.225611996 33.99317011 9.06E-05 72.2 . . A1CF 10 50799409 50885675 Y Viable N Y -0.881260137 9.93227991 0.003619701 59.5 . . A2M 12 9067664 9116229 N Viable N Y -0.311376616 28.82444869 0.000540115 66.8 DM . A2ML1 12 8822472 8887001 N . N N 1.775537977 98.13046246 1.33E-22 99.1 . . A3GALT2 1 33306766 33321098 N . N N . . 6.50E-07 83.3 . . A4GALT 22 42692121 42721298 N . N Y -0.332568014 27.61474793 0.111598718 42.5 DM [Blood group, P1Pk system, p phenotype], 111400 (3); [Blood group, P1Pk system, P(2) phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3) A4GNT 3 138123718 138132387 N . N Y 0.686086614 86.55437865 0.598408702 27.5 FTV . AAAS 12 53307456 53324864 N . N Y -0.197362146 35.68327835 4.54E-10 91.8 DM Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AACS 12 125065379 125143333 N . N N 0.947249024 91.97198588 4.25E-12 94.7 . . AADAC 3 151814037 151828488 N . N N 0.385001656 75.16930023 0.000181834 70.1 DM? . AADACL2 3 151733916 151761339 N . N N 0.416927285 76.69155525 1.78E-08 88.3 DM? . AADACL3 1 12716115 12728759 N . N N 0.794959429 89.10690513 0.000156334 70.5 . . AADACL4 1 12644547 12667086 N . N N 0.048322504 53.28471378 0.000547686 66.8 . . AADAT 4 170060222 170091699 N . N Y -0.53817717 18.67222319 0.250802295 37.1 . . AAED1 9 96639577 96655303 N . N N 0.860434959 90.37448631 9.51E-08 86.2 . . AAGAB 15 67201033 67255195 N . N N -0.040907923 46.57058517 0.008102073 55.8 DM Keratoderma, palmoplantar, punctate type IA, 148600 (3) AAK1 2 69457997 69674349 N . N N -0.342789861 27.12855241 0.999320421 5.5 . . AAMDC 11 77821109 77918432 N . N N 0.093995484 56.69387046 0.000474347 67.2 . . AAMP 2 218264123 218270257 N . N N 0.01161301 50.38490479 0.531201269 29.1 . . AANAT 17 76453351 76470117 N . N N 0.522779906 81.35092898 0.013038239 53.8 DP {Delayed sleep phase syndrome, susceptibility to}, 614163 (3) AAR2 20 36236459 36270918 N . N N 0.430976902 77.46136482 0.000262136 69 . . AARD 8 116938199 116944487 N Viable N Y -0.246513473 32.65613243 0.328326488 34.9 . . AARS2 6 44299654 44313326 N . N N 0.358321058 73.84383863 1.65E-07 85.5 DM Combined oxidative phosphorylation deficiency 8, 614096 (3); Leukoencephalopathy, progressive, with ovarian failure, 615889 (3) AARSD1 17 42950526 42964498 N . N N 0.41788394 76.71470741 2.44E-07 84.9 . . AASDH 4 56338287 56387508 N . N N 0.114392193 58.32031024 2.01E-05 76.2 . . AASDHPPT 11 106075501 106098710 N . N N -0.119765437 40.78833131 0.083941734 44.2 . . AASS 7 122075647 122144280 N . N N -0.641812633 15.62771314 1.36E-06 82.1 DM Hyperlysinemia, 238700 (3); Saccharopinuria, 268700 (1) AATK 17 81117295 81166077 N . N Y . . 0.806763652 21.4 . . ABAT 16 8674565 8784575 N . N N -0.495721965 20.38548359 0.374368506 33.5 DM GABA-transaminase deficiency, 613163 (3) ABCA10 17 69147214 69244846 N . N N 1.258481158 95.4969034 1.21E-27 99.5 DM? . ABCA13 7 48171458 48647496 N Viable N Y 4.767707742 99.83214678 3.31E-78 100 DM . ABCA2 9 137007227 137028922 N . N Y -1.697556794 2.45991781 0.999999516 1.5 DM? . ABCA4 1 93992835 94121132 N . N Y 2.090336531 98.7150547 1.27E-28 99.6 DM Stargardt disease 1, 248200 (3); Retinitis pigmentosa 19, 601718 (3); Cone-rod dystrophy 3, 604116 (3); {Macular degeneration, age-related, 2}, 153800 (3); Fundus flavimaculatus, 248200 (3); Retinal dystrophy, early-onset severe, 248200 (3) ABCA5 17 69244311 69327244 N . N Y 0.345549227 73.16084968 2.53E-15 97 . . ABCA6 17 69078702 69141888 N Viable N Y 0.810941833 89.35579094 1.83E-16 97.6 . . ABCA7 19 1040101 1065572 N . N Y 2.403998151 99.09706546 1.89E-36 99.9 DP . ABCA8 17 68867292 68955392 N Viable N Y 1.839438819 98.28095155 1.72E-33 99.8 FTV . ABCA9 17 68974488 69061064 N . N N -0.586004565 17.19048446 1.28E-26 99.5 . . ABCB1 7 87503633 87713323 N . N Y -0.161310924 37.88852231 0.734473812 23.6 DM {Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3) ABCB4 7 87401697 87480435 N . N Y -1.101313572 6.546275395 0.000203043 69.8 DM Cholestasis, progressive familial intrahepatic 3, 602347 (3); Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3); Gallbladder disease 1, 600803 (3) ABCB5 7 20615207 20777038 N . N N 2.92716117 99.47328819 1.17E-23 99.2 DM? . ABCB8 7 151028422 151047782 N . N N 0.104018084 57.50419633 4.60E-06 79.7 . . ABCB9 12 122920951 122981649 N Viable N Y -1.100632192 6.569427563 0.002901108 60.5 . . ABCC1 16 15949577 16143074 N . N Y -1.459410983 3.577009898 0.01943576 51.8 FP . ABCC10 6 43427366 43450430 N . N Y -0.432925267 23.05955895 8.31E-21 98.8 . . ABCC11 16 48166910 48247568 N . N N 1.80652302 98.20570701 5.70E-25 99.3 DFP [Earwax, wet/dry], 117800 (3); [Axillary odor, variation in], 117800 (3); [Colostrum secretion, variation in], 117800 (3) ABCC12 16 48082973 48156018 N . N N 1.287536057 95.70527291 2.21E-26 99.4 DM? . ABCC2 10 99782732 99852192 N Viable N Y 0.869231732 90.56549169 3.36E-29 99.6 DM Dubin-Johnson syndrome, 237500 (3) ABCC3 17 50634777 50692252 N . N Y -0.313815814 28.62765526 2.62E-14 96.5 DFP . ABCC4 13 95019829 95301446 N . N Y -0.443570983 22.5270591 0.001314683 63.7 FP . ABCC5 3 183919934 184018015 N . N N -3.147194401 0.538287897 0.896205135 17.9 . . ABCC6 16 16148928 16223522 N . N Y 0.012674769 50.45436129 1.45E-06 82 DM Pseudoxanthoma elasticum, 264800 (3); Pseudoxanthoma elasticum, forme fruste, 177850 (3); Arterial calcification, generalized, of infancy, 2, 614473 (3) ABCC8 11 17392885 17476845 N . N Y -2.343482783 1.088151878 3.94E-15 96.9 DM Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3); Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3) ABCC9 12 21797401 21941402 N . N Y -2.053756819 1.522255021 0.000700543 66 DM Cardiomyopathy, dilated, 1O, 608569 (3); Atrial fibrillation, familial, 12, 614050 (3); Hypertrichotic osteochondrodysplasia, 239850 (3) ABCD1 X 153724868 153744762 N . N Y 0.043538553 52.85061064 0.982118838 11.4 DM Adrenoleukodystrophy, 300100 (3); Adrenomyeloneuropathy, adult, 300100 (3) ABCD2 12 39550033 39619751 N . N Y -0.6936757 14.15176246 2.97E-06 80.6 . . ABCD3 1 94418455 94518666 N . N N -0.664619572 14.89263182 0.999695623 4.7 DM ?Bile acid synthesis defect, congenital, 5, 616278 (3) ABCD4 14 74285423 74303056 N . N Y 0.367428116 74.23742548 1.40E-08 88.5 DM Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3) ABCF1 6 30571376 30597179 N . N N -0.011549788 48.57324767 2.73E-06 80.7 . . ABCF2 7 151207837 151227230 N . N N -1.324134199 4.52624877 0.995417497 8.2 . . ABCF3 3 184186023 184194012 N . N N -0.294751724 29.72159518 0.004026166 59 . . ABCG1 21 42199689 42297244 N . N Y -1.286464315 4.792498698 0.358875895 33.9 DFP . ABCG2 4 88090264 88231322 N Viable N Y 0.314906814 71.38392082 1.37E-18 98.3 DFP [Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3) ABCG4 11 119149012 119162653 N . N Y -0.790262178 11.74393703 0.000455417 67.3 . . ABCG5 2 43812472 43838865 N . N Y 1.056929738 93.4537246 1.90E-15 97.2 DM Sitosterolemia, 210250 (3) ABCG8 2 43838964 43878466 N . N Y 0.81793519 89.48312786 3.75E-16 97.5 DM Sitosterolemia, 210250 (3); Gallbladder disease 4, 611465 (3) ABHD1 2 27123789 27130812 N . N N -0.171177353 37.31550616 1.06E-21 99 . . ABHD10 3 111979010 111993363 N . N N 0.352119595 73.52549632 0.000658971 66.2 . . ABHD11 7 73736094 73738867 N . N N -0.525887379 19.15841871 9.03E-06 78.3 . . ABHD12 20 25294743 25390983 N . N Y -0.031491274 47.21884586 1.98E-06 81.3 DM Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3) ABHD12B 14 50872160 50904970 N . N N 0.897139902 91.05747526 3.28E-13 95.7 . . ABHD13 13 108218379 108234255 N . N N 0.152256873 61.16223881 0.637356652 26.4 . . ABHD14A 3 51971426 51981199 N . N N 0.910235282 91.27742085 0.000234514 69.3 . . ABHD14A-ACY1 3 51975050 51989183 N . N N . . 2.25E-05 75.9 . . ABHD14B 3 51968510 51983409 N . N N 0.38485322 75.1519361 0.116162846 42.3 . . ABHD15 17 29560547 29567137 N . N N 0.288418427 69.82114951 0.001790126 62.3 . . ABHD16A 6 31686949 31703444 N . N N -0.08305528 43.36400996 0.988882578 10.2 . . ABHD16B 20 63861213 63863306 N . N N . . 0.033092969 49.2 . . ABHD17A 19 1876810 1885547 N . N N 1.066045452 93.57527348 0.050556875 46.9 . . ABHD17B 9 71862452 71910931 N . N N -0.214586899 34.6414308 0.961448199 13.8 . . ABHD17C 15 80679684 80755621 N . N N -0.239967611 33.04971928 0.84082863 20.2 . . ABHD2 15 89087459 89202360 N . N N -0.449899067 22.28396134 0.84946372 19.9 . . ABHD3 18 21650897 21704805 N . N N 0.118568504 58.65022863 1.34E-06 82.2 . . ABHD4 14 22598237 22613215 N . N N -0.501463696 20.08450541 7.51E-05 72.8 . . ABHD6 3 58237506 58295693 N . N N -0.420843869 23.49366209 0.002559916 61 . . ABHD8 19 17292131 17310236 N Viable N Y -0.568991981 17.68825606 0.642340813 26.3 . . ABI2 2 203328219 203447723 N . N Y -0.603790891 16.62325635 0.953329216 14.4 . . ABI3 17 49210227 49223225 N . N N 0.520058292 81.25832031 0.027711007 50.1 . . ABL2 1 179099327 179229684 N . N Y -1.005669692 7.779128321 0.009702577 55.1 . Leukemia, acute myeloid, with eosinophilia (1) ABLIM1 10 114431113 114685003 N . N Y -0.091212522 42.72732535 0.951991965 14.6 . . ABLIM2 4 7965310 8158832 N . N N -0.010592986 48.64849222 0.762415767 22.8 . . ABLIM3 5 149141483 149260542 N . N N 0.164846502 62.1404179 0.016025349 52.8 . . ABO 9 133250401 133275214 N Viable N Y . . . . DM [Blood group, ABO system], 616093 (3) ABR 17 1003518 1229021 N . N Y -1.354001973 4.271574926 0.999949479 3.3 . . ABRA 8 106759483 106770245 N . N Y -0.468580168 21.49678764 4.06E-06 79.9 . . ABRACL 6 139028682 139043302 N . N N -0.044887353 46.22330266 0.267692922 36.6 . . ABT1 6 26596952 26600744 N . N N -0.647852776 15.44828385 0.027105567 50.2 . . ABTB1 3 127672935 127680920 N . N N 0.111216702 58.0945766 0.001298307 63.7 . . ABTB2 11 34150988 34358008 N . N Y -0.496381337 20.3449673 0.12465044 41.9 . . AC002310.13 16 30534227 30558279 N . N N . . . . . . AC002398.9 19 35745678 35754519 N . N N . . . . . . AC002985.3 19 18907013 18934397 N . N N . . . . . . AC003002.4 19 57363566 57398584 N . N N . . . . . . AC003002.6 19 57389884 57419994 N . N N . . . . . . AC003005.4 19 57487718 57505381 N . N N . . . . . . AC003006.7 19 57682045 57753575 N . N N . . . . . . AC004076.7 19 57394183 57438457 N . N N . . . . . . AC004076.9 19 57437970 57477536 N . N N . . 0.005605695 57.6 . . AC004158.1 16 72496967 72497341 N . N N . . . . . . AC004381.6 16 20806429 20849668 N . N N . . 9.23E-07 82.6 . . AC004754.3 16 249547 269943 N . N N . . . . . . AC004813.1 12 119918001 119918375 N . N N . . . . . . AC004824.2 1 17329012 17331796 N . N N . . . . . . AC004853.1 7 143959971 143960924 N . N N . . . . . . AC004953.1 7 101635218 101638685 N . N N . . . . . . AC005477.1 14 71965306 71966899 N . N N . . . . . . AC005480.1 14 74003369 74003777 N . N N . . . . . . AC005779.2 19 45179822 45202444 N . N N . . . . . . AC005943.2 19 1578339 1605445 N . N N . . . . . . AC006328.4 Y 25463994 25473714 N . N N . . . . . . AC006386.1 Y 25307702 25308107 N . N N . . . . . . AC006449.2 17 38727833 38728198 N . N N . . . . . . AC006486.9 19 42234583 42255132 N . N N . . . . . . AC006538.4 19 2717769 2740048 N . N N . . . . . . AC006547.14 22 20148427 20151065 N . N N . . . . . . AC006994.3 2 210232692 210233976 N . N N . . . . . . AC007040.11 2 70939318 70995336 N . N N . . 0.000106767 71.7 . . AC007163.2 2 200682822 200683196 N . N N . . . . . . AC007192.4 19 18153158 18178117 N . N N . . . . . . AC007326.1 22 18945123 18946971 N . N N . . . . . . AC007557.5 2 216863059 216865281 N . N N . . . . . . AC007906.1 16 53207941 53226385 N . N N . . . . . . AC008074.1 2 64552771 64592133 N . N N . . . . . . AC008622.1 19 46792971 46793189 N . N N . . . . . . AC008641.1 5 151016918 151017411 N . N N . . . . . . AC008686.1 19 13780070 13790158 N . N N . . . . . . AC008759.1 19 9615561 9616905 N . N N . . . . . . AC008810.1 5 40801222 40801596 N . N N . . . . . . AC008914.1 5 55928640 55928741 N . N N . . . . . . AC009022.1 16 70052395 70052769 N . N N . . . . . . AC009060.2 16 70205400 70205780 N . N N . . . . . . AC009065.4 16 2253737 2262342 N . N N . . . . . . AC009133.22 16 29663279 29695144 N . N N . . . . . . AC009336.19 2 176151085 176173097 N . N N . . . . . . AC009491.1 Y 8710885 8745985 N . N N . . . . . . AC009491.2 Y 8695281 8743495 N . N N . . . . . . AC009758.1 11 4367351 4368295 N . N N . . . . . . AC009977.1 Y 19576009 19576182 N . N N . . . . . . AC010287.1 16 58554337 58554935 N . N N . . . . . . AC010547.9 16 71447600 71489311 N . N N . . . . . . AC010642.1 19 58278966 58315197 N . N N . . . . . . AC010646.3 19 17235940 17255448 N . N N . . . . . . AC010655.1 7 128441694 128442726 N . N N . . . . . . AC011155.1 18 52409042 52409257 N . N N . . . . . . AC011513.3 19 41708612 41761282 N . N N . . . . . . AC011530.4 19 45779437 45785973 N . N N . . . . . . AC012005.3 Y 24362031 24362436 N . N N . . . . . . AC012005.4 Y 24196425 24206144 N . N N . . . . . . AC013269.5 2 130539095 130549883 N . N N . . . . . . AC015688.3 17 27623364 27640777 N . N N . . . . . . AC016142.1 3 150819598 150819972 N . N N . . . . . . AC016577.1 5 156658587 156660435 N . N N . . . . . . AC017028.10 2 239161797 239162357 N . N N . . . . . . AC017081.1 2 206355739 206356119 N . N N . . . . . . AC018512.1 15 43782843 43783033 N . N N . . . . . . AC018755.18 19 51612091 51646889 N . N N . . . . . . AC019206.1 2 69902350 69902709 N . N N . . . . . . AC022210.1 2 84895085 84895221 N . N N . . . . . . AC024592.12 19 5866171 5903787 N . N N . . . . . . AC025263.3 12 69801669 69855363 N . N N . . . . . . AC026449.1 5 115855994 115858468 N . N N . . . . . . AC037459.4 8 22589274 22602084 N . N N . . . . . . AC055733.1 3 130868872 130869246 N . N N . . . . . . AC063956.1 4 70020979 70021229 N . N N . . . . . . AC064829.1 Y 8549671 8748740 N . N N . . . . . . AC068533.7 7 66087761 66152277 N . N N . . . . . . AC069063.1 3 115113420 115114210 N . N N . . . . . . AC069063.2 3 115120172 115121489 N . N N . . . . . . AC069368.3 15 64841883 64930920 N . N N . . . . . . AC073333.1 7 16789242 16789622 N . N N . . . . . . AC073610.5 12 48921963 48939663 N . N N . . . . . . AC073657.1 15 41781148 41784031 N . N N . . . . . . AC079355.1 7 63762476 63765094 N . N N . . . . . . AC084219.2 19 44025354 44087318 N . N N . . . . . . AC087762.1 15 100783470 100785235 N . N N . . . . . . AC090154.1 8 66674499 66675916 N . N N . . . . . . AC092159.1 2 687799 688348 N . N N . . . . . . AC092718.1 16 81170740 81181213 N . N N . . . . . . AC092835.2 2 95207535 95259774 N . N N . . . . . . AC092881.1 12 70321677 70324274 N . N N . . . . . . AC104057.1 7 65554258 65555459 N . N N . . . . . . AC104073.2 7 65140528 65141723 N . N N . . . . . . AC104389.1 11 5253367 5254782 N . N N . . . . . . AC104389.2 11 5248449 5249858 N . N N . . . . . . AC104532.2 19 5904841 5914707 N . N N . . . . . . AC104534.3 19 38817471 38840178 N . N N . . . . . . AC104981.1 17 77777090 77777464 N . N N . . . . . . AC108925.1 8 127630283 127630657 N . N N . . . . . . AC108938.5 2 110402934 110473075 N . N N . . . . . . AC109829.1 2 27537386 27567144 N . N N . . . . . . AC109829.2 2 27556908 27557282 N . N N . . . . . . AC110615.1 4 75949920 75957413 N . N N . . 0.006694544 56.8 . . AC113404.1 5 76170093 76174331 N . N N . . . . . . AC118758.1 7 56804059 56804689 N . N N . . . . . . AC124312.1 15 25091960 25092377 N . N N . . . . . . AC129492.1 17 8188933 8189688 N . N N . . . . . . AC138969.4 16 16317444 16350590 N . N N . . . . . . AC231657.1 X 49155242 49157351 N . N N . . . . . . AC234582.1 1 155190050 155191339 N . N N . . . . . . AC234582.2 1 155188587 155189452 N . N N . . . . . . AC242988.1 1 150302770 150303291 N . N N . . . . . . AC243756.1 1 146344006 146344790 N . N N . . . . . . AC243945.1 14 22638099 22638473 N . N N . . . . . . AC253572.1 1 120723923 120793877 N . N N . . . . . . ACAA1 3 38103129 38137242 N . N Y 0.036035566 52.3065347 2.64E-05 75.5 . . ACAA2 18 49782167 49813960 N . N N -0.222893607 34.16102333 0.003508042 59.7 . . ACACB 12 109116595 109268226 N . N Y -2.323579519 1.099727962 5.12E-22 99 DM? . ACAD10 12 111686056 111757107 N . N N 0.221505549 65.70585171 4.01E-20 98.7 FP . ACAD11 3 132558138 132660723 N . N N 0.112325491 58.15824507 1.68E-07 85.5 . . ACAD8 11 134253495 134265855 N . N N -0.387960287 25.05064537 1.17E-05 77.7 DM Isobutyryl-CoA dehydrogenase deficiency, 611283 (3) ACAD9 3 128879596 128916067 N . N N -0.366105665 26.08670487 2.07E-05 76.1 DM Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) ACADS 12 120725735 120740008 N . N N -0.127116299 40.27319558 0.00016291 70.4 DM Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) ACADSB 10 123008979 123058311 N . N N 0.157996972 61.60213 2.99E-08 87.6 DM 2-methylbutyrylglycinuria, 610006 (3) ACADVL 17 7217125 7225273 N . N Y -0.837047289 10.84100249 1.31E-07 85.8 DM VLCAD deficiency, 201475 (3) ACAP1 17 7336529 7351478 N Viable N Y 0.074658654 55.24685999 0.237755775 37.5 . . ACAP2 3 195274736 195443078 N . N N -0.628060421 15.93447937 0.999918185 3.6 . . ACAP3 1 1292376 1309609 N . N Y -0.752745356 12.53111073 0.03943093 48.4 . . ACAT1 11 108121516 108147776 N . N N -0.616882625 16.28176188 0.001599516 62.8 DM Alpha-methylacetoacetic aciduria, 203750 (3) ACBD4 17 45132600 45144181 N . N N 0.665489359 86.0913353 1.83E-05 76.5 . . ACBD5 10 27195214 27242130 N . N N 0.05486868 53.70724084 0.06164569 45.8 DM . ACBD6 1 180269653 180502954 N . N N -0.476237287 21.18423337 0.064959259 45.5 DM . ACBD7 10 15077523 15088776 N . N N 0.290033479 69.90218209 0.086336608 44 . . ACCS 11 44065925 44084222 N . N N 0.603699992 84.26231406 0.000171666 70.3 DP . ACCSL 11 44047981 44059977 N . N N -0.136381432 39.66545118 2.58E-11 93.7 . . ACE2 X 15561033 15602148 N . N Y 0.150493969 61.02911385 0.999070361 5.8 . . ACER1 19 6306142 6333629 N . N Y 0.084729555 56.09191411 0.335356707 34.7 . . ACER2 9 19409059 19452020 N . N N -0.059741353 45.11778665 0.146646887 40.7 . . ACER3 11 76860867 77026797 N . N N -0.042016662 46.43167217 0.831594949 20.6 . . ACIN1 14 23058564 23095614 N . N N -0.499917934 20.18290212 0.999998437 1.8 . . ACKR1 1 159203307 159206500 N . N Y . . . . . . ACKR2 3 42804752 42887974 N . N Y 0.097973006 57.00063668 0.00037689 68 . . ACKR4 3 132597237 132618967 N . N Y 0.480629485 79.77658158 0.007445108 56.3 . . ACMSD 2 134838547 134902034 N . N N 0.384045085 75.10563176 1.99E-07 85.2 . . ACO2 22 41469125 41528989 N . N N -0.877433808 9.995948371 0.454377775 31.3 DM Infantile cerebellar-retinal degeneration, 614559 (3); ?Optic atrophy 8, 616289 (3) ACOT1 14 73537114 73543794 N . N N . . 0.035999166 48.8 . . ACOT11 1 54542257 54639192 N . N Y 0.584216026 83.65456966 1.33E-10 92.7 . . ACOT12 5 81330005 81394179 N . N N -0.183312917 36.54569659 1.29E-11 94.1 . . ACOT13 6 24667035 24705065 N . N Y 0.268480327 68.6056607 3.43E-05 74.9 . . ACOT2 14 73567620 73575658 N . N N 0.8382163 89.98089946 0.142294698 41 . . ACOT4 14 73591706 73596496 N Viable N Y 0.141077527 60.28245644 4.21E-08 87.2 . . ACOT6 14 73610945 73619888 N . N N 0.12592113 59.20588065 0.001523887 63 . . ACOT7 1 6264269 6394391 N . N N -0.902009032 9.53869306 0.381517902 33.3 . . ACOT8 20 45841721 45857406 N . N N 0.976957029 92.43502923 3.57E-05 74.8 . . ACOT9 X 23702253 23766475 N . N N 0.365212869 74.13902877 1.91E-05 76.4 . . ACOX1 17 75941507 75979363 N . N Y -0.441286593 22.67754819 0.094435306 43.5 DM Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) ACOX2 3 58505136 58537319 N . N N -0.160653142 37.96376686 1.55E-09 90.8 . . ACOX3 4 8366282 8440723 N . N N 0.374128395 74.64258841 3.03E-12 94.9 . . ACOXL 2 110732573 111118222 N . N N 1.435803692 96.6024194 6.28E-10 91.5 . . ACP1 2 264140 278283 N . N Y -0.023183121 47.73398159 0.002207534 61.5 . . ACP2 11 47239302 47248906 N . N Y -0.362580181 26.22561787 0.000525977 66.9 . ?Lysosomal acid phosphatase deficiency, 200950 (1) ACP5 19 11574660 11579008 N . N Y 0.390591665 75.41239799 0.123568348 41.9 DM Spondyloenchondrodysplasia with immune dysregulation, 607944 (3) ACP6 1 147629652 147670496 N . N N 0.854030858 90.2760896 3.14E-05 75.1 DM? . ACPP 3 132317367 132368298 N . N Y -0.431064706 23.12901545 1.76E-07 85.4 FTV . ACPT 19 50790415 50795224 N . N N -0.416058551 23.66730335 1.22E-13 96 . . ACR 22 50738196 50745334 N . N Y 0.156083554 61.48058112 0.01545989 53 . ?Male infertility due to acrosin deficiency (2) ACRBP 12 6638075 6647460 N . N Y 0.003304686 49.75979626 1.88E-07 85.2 . . ACRC X 71578411 71613583 N . N N 0.085837372 56.15558257 0.982862106 11.3 . . ACRV1 11 125671522 125681123 N . N N 0.242293684 67.01973722 0.000432843 67.5 . . ACSBG1 15 78167468 78245688 N . N Y -0.485199748 20.74434219 0.006700298 56.8 . . ACSBG2 19 6135247 6193094 N . N Y 1.203331922 95.05122417 3.48E-07 84.3 . . ACSF2 17 50426158 50474845 N Viable N Y -0.6936757 14.15176246 0.08385164 44.2 . . ACSF3 16 89088375 89155846 N . N N 0.062675124 54.32077328 1.37E-15 97.2 DM Combined malonic and methylmalonic aciduria, 614265 (3) ACSL1 4 184755595 184826818 N . N N -0.338006426 27.36007409 0.091837331 43.6 . . ACSL3 2 222860934 222944639 N . N N -0.158890404 38.10846791 0.530102681 29.1 . . ACSL5 10 112374018 112428380 N Viable N Y -0.535000983 18.79377207 0.016763711 52.6 DFP . ACSM1 16 20623237 20698890 N . N N 0.91053248 91.28320889 4.37E-09 89.7 . . ACSM2A 16 20451461 20487667 N Viable N Y 0.925696379 91.61891532 2.49E-06 80.9 . . ACSM2B 16 20536226 20576427 N . N N 0.956668363 92.13405105 8.66E-06 78.4 FP . ACSM3 16 20610243 20797581 N . N Y 0.635626645 85.2347051 4.98E-09 89.6 DFP {?Hypertension, essential} (1) ACSM4 12 7304284 7328724 N . N N 0.777232305 88.74225849 4.67E-11 93.4 . . ACSM5 16 20409534 20441336 N . N N 1.83386473 98.25779939 5.09E-08 86.9 . . ACSM6 10 95194200 95228928 N . N N . . . . . . ACSS1 20 25006230 25058980 N . N Y -0.408404087 24.00300978 0.001396696 63.4 . . ACSS2 20 34872146 34927962 N . N N -0.546330528 18.33651676 8.97E-11 93 . . ACSS3 12 80936414 81261205 N . N N -0.70294221 13.8392082 3.00E-11 93.7 . . ACTA2 10 88935074 88991390 N . N Y -0.267108277 31.41749146 0.734223241 23.6 DM Aortic aneurysm, familial thoracic 6, 611788 (3); Multisystemic smooth muscle dysfunction syndrome, 613834 (3); Moyamoya disease 5, 614042 (3) ACTBL2 5 57480016 57482809 N . N N 0.827842702 89.72043758 6.02E-10 91.6 . . ACTG2 2 73892314 73919865 N . N N -0.525085865 19.18735892 0.692010864 24.8 DM Visceral myopathy, 155310 (3) ACTL10 20 33666498 33668525 N . N N 0.316368397 71.5054697 0.001052601 64.5 . . ACTL7A 9 108862266 108863759 N . N N 0.294159089 70.15106789 6.78E-06 79 . . ACTL7B 9 108854589 108856967 N . N N -0.822189382 11.12461654 6.60E-05 73.1 . . ACTL8 1 17755313 17827063 N . N N 0.461946007 78.93152746 0.077144246 44.6 . . ACTL9 19 8697397 8698822 N . N N 0.685278874 86.54280257 0.042627929 47.9 . . ACTN1 14 68874143 68979440 N . N N -1.654184846 2.650923193 0.999930574 3.5 . Bleeding disorder, platelet-type, 15, 615193 (3) ACTN2 1 236686454 236764631 N . N N -0.451361828 22.20871679 0.999811916 4.2 DM Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3); Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3) ACTN3 11 66546395 66563329 N . N Y . . . . FP [Alpha-actinin-3 deficiency] (3); [Sprinting performance] (3) ACTR10 14 58200080 58235636 N . N N -0.154409651 38.42681021 0.004736237 58.4 . . ACTR1A 10 102479229 102502711 N . N N -0.402163571 24.28662384 0.941234074 15.5 . . ACTR1B 2 97655963 97664107 N . N N -0.608422187 16.49591943 0.031660126 49.4 . . ACTR2 2 65227753 65271253 N . N N -0.337507753 27.3890143 0.997096541 7.5 . . ACTR3B 7 152759749 152855378 N . N N -0.369279534 25.88991144 0.99754718 7.2 . . ACTR3C 7 150243916 150323725 N . N N 1.01433189 92.92701279 0.001231511 63.9 DM? . ACTR5 20 38748442 38772520 N . N N -0.234877184 33.36806158 1.00E-12 95.3 . . ACTRT1 X 128050962 128052398 N . N N 0.556617993 82.67639058 0.064112936 45.6 . . ACTRT2 1 3021483 3022903 N . N N -0.09614756 42.3337385 0.018722461 52 . . ACTRT3 3 169766921 169769895 N . N N 0.125114793 59.14221219 0.000670124 66.1 . . ACVR1C 2 157526767 157629005 N . N Y -0.568991981 17.68825606 0.044891005 47.6 DM . ACY1 3 51983340 51989197 N . N N 0.546393986 82.29437981 7.69E-05 72.7 DM Aminoacylase 1 deficiency, 609924 (3) ACY3 11 67642555 67650659 N . N N 0.200145052 64.3919662 1.88E-07 85.2 . . ACYP1 14 75053221 75069483 N . N N 0.047063497 53.15737686 0.223001664 37.9 . . ACYP2 2 53970838 54305300 N . N N 0.366978017 74.20848527 0.000220645 69.5 . . AD000671.6 19 35739252 35745432 N . N N . . . . . . ADAD1 4 122378966 122429802 N . N Y -0.285636061 30.30618742 0.974992287 12.4 . . ADAD2 16 84191138 84197168 N . N N 0.762537251 88.35445969 6.70E-05 73 . . ADAL 15 43330674 43354555 N . N N 0.045300934 53.00688777 8.52E-09 89.1 . . ADAM11 17 44759031 44781846 N . N Y -0.585759916 17.21363663 0.024736381 50.5 . . ADAM15 1 155050566 155062775 N . N Y 0.646156788 85.53568328 1.08E-11 94.2 . . ADAM18 8 39584489 39730064 N . N Y 0.858165292 90.33397002 1.53E-19 98.6 . . ADAM2 8 39743735 39838289 N . N Y 0.660205663 85.92927013 7.21E-14 96.2 . . ADAM20 14 70522358 70535015 N . N N -0.152193444 38.54257105 1.80E-09 90.6 . . ADAM21 14 70452157 70459899 N . N Y 2.237413822 98.91184812 0.014672876 53.3 . . ADAM28 8 24294040 24359018 N . N N 0.752160326 88.14030214 1.97E-17 98 . . ADAM29 4 174829668 174978180 N . N N -0.445771112 22.46917868 4.69E-07 83.8 . . ADAM30 1 119893533 119896495 N . N N -1.123143885 6.355270012 0.001938073 62 . . ADAM32 8 39106990 39284911 N . N N 0.771642708 88.60334549 1.17E-08 88.7 . . ADAM33 20 3667965 3682246 N . N Y 1.295138018 95.74000116 1.31E-11 94.1 DM? . ADAM7 8 24440930 24526970 N . N N 1.388218809 96.33038143 1.74E-12 95.1 DP . ADAM8 10 133262403 133276868 N Viable N Y 1.695900795 97.8873647 1.48E-07 85.6 . . ADAM9 8 38996869 39105144 N . N Y -0.613859382 16.36858251 0.828249261 20.7 DM Cone-rod dystrophy 9, 612775 (3) ADAMDEC1 8 24384285 24406013 N . N N 0.397288115 75.70180008 1.76E-09 90.7 . . ADAMTS10 19 8580242 8610735 N . N N -0.35845456 26.37031892 0.98034624 11.7 DM Weill-Marchesani syndrome 1, recessive, 277600 (3) ADAMTS12 5 33523535 33892192 N . N Y -0.38326217 25.25322683 1.54E-11 94.1 . . ADAMTS13 9 133414358 133459402 N Viable N Y 0.931784799 91.75204028 7.88E-11 93.1 DM Thrombotic thrombocytopenic purpura, familial, 274150 (3) ADAMTS14 10 70672803 70762441 N . N N 1.062229429 93.52318111 2.33E-06 81 . . ADAMTS15 11 130448974 130476641 N Viable N Y 0.134183897 59.75574463 0.679914358 25.2 . . ADAMTS16 5 5140330 5320304 N . N N 0.96930333 92.31348035 0.001086503 64.4 DP . ADAMTS17 15 99971589 100342005 N . N N -0.378764424 25.50211264 3.83E-11 93.6 DM Weill-Marchesani-like syndrome, 613195 (3) ADAMTS18 16 77247813 77435114 N Viable N Y 1.375858642 96.26671297 3.74E-15 96.9 DM Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3) ADAMTS19 5 129460265 129738683 N . N N -0.316304619 28.50610638 0.951958941 14.6 . . ADAMTS2 5 179110851 179345430 N . N Y -0.614382069 16.35121838 0.992213475 9.4 DM Ehlers-Danlos syndrome, type VIIC, 225410 (3) ADAMTS20 12 43353866 43551921 N . N Y -0.917977625 9.249290965 4.85E-26 99.4 . . ADAMTS3 4 72280969 72568799 N . N N -1.515974584 3.258667593 1.79E-06 81.5 . . ADAMTS4 1 161184308 161199056 N . N Y 0.911647357 91.30636106 0.00546594 57.7 . . ADAMTS5 21 26917912 26966513 N . N Y -0.079882631 43.62447184 0.118850234 42.2 . . ADAMTS6 5 65148736 65481920 N . N N -0.431721062 23.10586329 0.998800473 6.1 . . ADAMTS7 15 78759203 78811431 N . N N 4.441062911 99.81478266 2.99E-07 84.5 . . ADAMTS8 11 130404925 130428993 N . N N -0.049064732 45.89917231 1.06E-08 88.9 . . ADAMTSL1 9 18473894 18910950 N . N N 1.429774462 96.55032702 8.83E-05 72.3 . . ADAMTSL2 9 133532164 133575519 N . N N . . 0.071058667 45 DM Geleophysic dysplasia 1, 231050 (3) ADAMTSL3 15 83654086 84039842 N . N N 0.257583618 67.87636742 9.55E-09 89 DM . ADAMTSL4 1 150549369 150560937 N . N N 1.509780294 97.00758233 7.09E-16 97.4 DM Ectopia lentis, isolated, autosomal recessive, 225100 (3); Ectopia lentis et pupillae, 225200 (3) ADAMTSL5 19 1505018 1513604 N . N N 0.258406299 67.95161197 3.22E-10 92.1 . . ADAP1 7 897901 955407 N . N N -0.388917343 25.00434103 0.657926854 25.8 . . ADAP2 17 30906344 30959322 N . N N -0.133814513 39.83909244 3.98E-05 74.5 . . ADARB2 10 1177318 1737476 N . N N 0.192944613 64.01574347 0.738168861 23.5 . . ADAT1 16 75596981 75623300 N . N N 0.116000912 58.43028304 6.80E-11 93.2 . . ADAT2 6 143422832 143450673 N . N N -0.153605457 38.49626671 2.09E-08 88.1 . . ADAT3 19 1905378 1913447 N . N N . . 0.001179647 64.1 DM Mental retardation, autosomal recessive 36, 615286 (3) ADCK1 14 77800083 77935012 N . N N -0.126964929 40.27898362 4.23E-09 89.8 . . ADCK2 7 140673153 140696261 N Viable N Y 0.551177708 82.49117324 0.000169238 70.3 . . ADCK3 1 226897536 226987545 N . N N 0.350661874 73.39237136 1.24E-05 77.5 DM Coenzyme Q10 deficiency, primary, 4, 612016 (3) ADCK4 19 40691529 40718207 N . N N 0.173154201 62.77710251 1.82E-07 85.3 . Nephrotic syndrome, type 9, 615573 (3) ADCK5 8 144373101 144393242 N . N N 0.194555337 64.09677606 0.908275225 17.4 . . ADCY1 7 45574140 45723116 N . N Y -2.003251612 1.638015859 0.99990962 3.7 . ?Deafness, autosomal recessive 44, 610154 (3) ADCY10 1 167809388 167914215 N . N Y 0.08388323 56.0224576 5.85E-26 99.4 DM? {Hypercalciuria, absorptive, susceptibility to}, 143870 (3) ADCY2 5 7396208 7830081 N . N N -1.448691364 3.681194652 0.999995486 2.2 . . ADCY4 14 24318349 24335093 N . N Y -0.675506349 14.61480581 2.38E-13 95.8 . . ADCY5 3 123282296 123449758 N . N Y -2.016226141 1.597499566 0.989940592 10 DM Dyskinesia, familial, with facial myokymia, 606703 (3) ADCY6 12 48766194 48789037 N . N Y -1.476666571 3.490189269 0.596680215 27.5 DP ?Lethal congenital contracture syndrome 8, 616287 (3) ADCY8 8 130780301 131042426 N . N Y -1.713138467 2.402037391 0.002985662 60.3 DM? . ADD2 2 70607618 70768225 N . N Y -0.84359461 10.71366557 0.999175207 5.7 . . ADD3 10 109996368 110135565 N . N Y -0.203908406 35.22023499 0.952357437 14.5 . . ADGB 6 146598965 146815462 N . N N . . . . . . ADGRA1 10 133070929 133131675 N . N N . . . . . . ADGRA3 4 22345071 22516054 N . N Y . . . . . . ADGRB2 1 31727117 31764893 N . N Y . . . . . . ADGRB3 6 68635367 69389511 N . N N . . . . . . ADGRD1 12 130953907 131141469 N Viable N Y . . . . . . ADGRD2 9 124451600 124478589 N . N N . . . . . . ADGRE1 19 6887566 6940459 N . N Y . . . . . . ADGRE2 19 14732393 14778541 N . N N . . . . . . ADGRE3 19 14619117 14690027 N . N N . . . . . . ADGRE5 19 14380501 14408725 N . N Y . . . . . . ADGRF1 6 46997703 47042363 N . N N . . . . . . ADGRF2 6 47656436 47697797 N . N N . . . . . . ADGRF3 2 26308173 26346817 N . N N . . . . . . ADGRF4 6 47685864 47722021 N . N N . . . . . . ADGRF5 6 46852512 46954943 N Viable N Y . . . . . . ADGRG1 16 57610652 57665580 N . N Y . . . . . . ADGRG2 X 18989309 19122637 N . N Y . . . . . . ADGRG3 16 57668187 57689378 N . N N . . . . . . ADGRG4 X 136300963 136416888 N . N N . . . . . . ADGRG5 16 57542421 57591681 N . N N . . . . . . ADGRG7 3 100609589 100695479 N . N N . . . . . . ADGRL1 19 14147743 14206187 N . N Y . . . . . . ADGRL3 4 61201258 62078335 N Viable N Y . . . . . . ADGRL4 1 78889764 79006718 N . N Y . . . . . . ADGRV1 5 90529344 91164221 N Viable N Y . . . . . Febrile seizures, familial, 4, 604352 (3); Usher syndrome, type 2C, 605472 (3); Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3) ADH1A 4 99276367 99291028 N . N N 0.135487969 59.87729351 6.69E-08 86.6 . . ADH1B 4 99304964 99321401 N . N N 0.718969098 87.40522081 0.193827609 38.9 DFP {Alcohol dependence, protection against}, 103780 (3); {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3) ADH1C 4 99336492 99353027 N . N Y . . . . DFP {Alcohol dependence, protection against}, 103780 (3); {Parkinson disease, susceptibility to}, 168600 (3) ADH4 4 99123657 99157792 N . N N 0.551027573 82.47959715 7.01E-06 78.9 FP . ADH5 4 99070978 99088801 N Viable N Y -0.180746515 36.69039764 9.11E-07 82.7 FP . ADH6 4 99202638 99219537 N . N N 0.23207049 66.37147653 0.002016524 61.9 . . ADH7 4 99412261 99435737 N . N Y 0.17491644 62.86392313 7.33E-09 89.3 DP . ADHFE1 8 66430185 66471601 N . N N -0.482629449 20.86589107 3.88E-05 74.6 . . ADI1 2 3497361 3519736 N . N N 0.642833002 85.44886265 0.006029451 57.2 . . ADIG 20 38581195 38588463 N Viable N Y 0.471067589 79.34247844 . . . . ADIPOQ 3 186842690 186858463 N . N Y 0.471213564 79.34826648 5.62E-07 83.6 DM Adiponectin deficiency, 612556 (3) ADIPOR1 1 202940823 202958572 N Viable N Y -0.500661427 20.13080975 0.592753906 27.6 DFP . ADIPOR2 12 1688574 1788678 N . N Y -0.303666373 29.26433987 0.810597984 21.3 . . ADIRF 10 86968192 86983934 N . N N 0.143647524 60.46767379 0.033386817 49.2 . . ADM2 22 50481556 50486440 N Viable N Y 0.479526897 79.73027725 0.015300038 53 . . ADM5 19 49688664 49690575 N . N N . . 0.036214399 48.8 . . ADNP2 18 80109031 80147523 N . N N -1.116321995 6.401574347 0.346937921 34.3 . . ADO 10 62804857 62808483 N . N N 0.163436574 62.02465706 0.745072785 23.3 . . ADORA1 1 203090654 203167405 N . N Y -0.232310623 33.58800718 0.021258038 51.3 DP . ADORA2A 22 24417879 24442360 N . N Y -0.471451247 21.36945071 0.331624356 34.8 DP . ADORA2B 17 15944917 15975746 N Viable N Y -0.534347745 18.81113619 2.01E-05 76.2 . . ADPGK 15 72751369 72785846 N . N N -0.33543894 27.48162297 0.022156295 51.1 . . ADPRH 3 119579268 119589945 N . N Y -0.009939149 48.69479655 8.59E-06 78.5 . . ADPRHL1 13 113421940 113453524 N . N N 0.635476197 85.21734097 2.88E-07 84.6 . . ADPRHL2 1 36088875 36093932 N . N N -0.496832081 20.33339121 6.50E-05 73.1 . . ADPRM 17 10697594 10711233 N . N N 0.122244706 58.89332639 0.065596775 45.5 . . ADRA1A 8 26748150 26867273 N . N Y -0.326827012 27.93309024 4.17E-07 84 DP . ADRA1B 5 159916783 159972544 N . N Y -0.359862201 26.32401459 0.182479135 39.2 . . ADRA1D 20 4220631 4249074 N . N Y -0.201341563 35.40545234 . . . . ADRA2A 10 111077163 111080907 N Viable N Y 0.008742604 50.21705157 . . DP . ADRA2C 4 3766348 3768526 N . N Y -0.257690928 32.05996411 0.645951821 26.2 DFP {Congestive heart failure and beta-blocker response, modifier of} (3) ADRB2 5 148825245 148828687 N . N Y -0.297923775 29.57689414 0.476493104 30.7 DM {Asthma, nocturnal, susceptibility to}, 600807 (3); {Obesity, susceptibility to}, 601665 (3); Beta-2-adrenoreceptor agonist, reduced response to (3) ADRB3 8 37962991 37966965 N . N Y . . 0.323569934 35 DFP {Obesity, susceptibility to}, 601665 (3) ADRBK2 22 25564849 25729294 N . N Y -0.750026799 12.61793135 0.793703983 21.9 DFP . ADSS 1 244408494 244452134 N . N N -0.378697035 25.5252648 0.822870228 20.9 . . ADSSL1 14 104724186 104747325 N . N N -0.557660845 17.99502228 0.000383323 67.9 . . ADTRP 6 11712054 11807046 N . N N -0.121679336 40.63205418 0.000702618 66 . . AEN 15 88621296 88632282 N . N N 0.826886131 89.70886149 6.06E-08 86.7 . . AES 19 3052910 3063107 N . N Y 0.139970692 60.17827169 0.650716677 26 . . AF131216.1 8 11283500 11285068 N . N N . . . . . . AF165138.7 21 14591930 14658821 N . N N . . . . . . AF196779.12 X 49071726 49079887 N . N N . . 0.901680437 17.7 . . AFAP1 4 7758714 7939926 N . N N -0.713979515 13.56717023 0.37607178 33.5 . . AFAP1L1 5 149271871 149341802 N . N N 0.087902717 56.29449557 4.07E-08 87.3 . . AFAP1L2 10 114294824 114404756 N Viable N Y 0.410686531 76.37321294 0.446972664 31.5 . . AFF2 X 148500619 149000663 N . N Y -0.710299272 13.6192626 0.998760604 6.2 DM Mental retardation, X-linked, FRAXE type, 309548 (3) AFF3 2 99545419 100142739 N . N Y -1.500964494 3.362852347 0.998912591 6 DM . AFM 4 73481683 73504001 N . N Y 0.706026988 87.04636222 2.51E-12 94.9 . . AFMID 17 78187317 78207701 N Viable N Y -0.086882719 43.06881982 0.002138128 61.6 . . AFP 4 73431138 73456174 N . N Y -0.047302484 46.03808532 4.90E-05 73.9 DM [Hereditary persistence of alpha-fetoprotein], 615970 (3); Alpha-fetoprotein deficiency, 615969 (3) AFTPH 2 64524305 64593005 N . N N 0.090773389 56.50286508 0.996888388 7.6 . . AGA 4 177430770 177442503 N . N Y 0.490045546 80.10071193 0.000640804 66.3 DM Aspartylglucosaminuria, 208400 (3) AGAP2 12 57723761 57742157 N . N Y -0.610989741 16.43225097 0.999218902 5.6 . . AGAP3 7 151085831 151144436 N . N N -1.08275718 6.754644904 0.991380425 9.6 . . AGAP4 10 45825594 45853875 N . N N . . . . . . AGAP5 10 73674285 73698159 N . N N . . . . . . AGAP6 10 49982190 50010499 N . N N 1.797137322 98.1767668 . . . . AGAP9 10 47501854 47549750 N . N N . . . . . . AGBL1 15 86141996 87029052 N . N N 1.489001704 96.91497366 3.60E-23 99.2 . Corneal dystrophy, Fuchs endothelial, 8, 615523 (3) AGBL2 11 47659591 47715389 N . N N -0.409211558 23.97985761 6.81E-12 94.4 . . AGBL3 7 134986508 135147963 N . N N . . . . . . AGBL4 1 48532855 50023913 N . N N . . 3.58E-06 80.2 DP . AGBL5 2 27042364 27070622 N . N N -0.966377446 8.433177056 0.020694851 51.5 . . AGER 6 32180968 32184324 N . N Y 0.42634373 77.18353881 1.46E-10 92.7 DFP . AGFG1 2 227472152 227561214 N . N Y -0.461077067 21.84985819 0.969265962 13.1 . . AGFG2 7 100539211 100568219 N . N N 0.462902626 78.98361984 0.004764464 58.3 . . AGGF1 5 77029251 77065234 N . N N -0.142927664 39.19083174 6.10E-05 73.4 DM . AGK 7 141551189 141655244 N . N N 0.353076131 73.59495283 2.47E-06 80.9 DM Sengers syndrome, 212350 (3); Cataract 38, autosomal recessive, 614691 (3) AGMAT 1 15572353 15585110 N . N N 0.177635945 63.02598831 0.003672625 59.4 . . AGMO 7 15200318 15562015 N . N N 1.146016972 94.48978411 3.26E-07 84.4 . . AGO1 1 35869808 35929610 N . N Y -1.195609276 5.625976732 0.999999463 1.5 . . AGO3 1 35930718 36072500 N . N Y -0.46953715 21.46205939 0.999998844 1.8 . . AGO4 1 35808172 35857890 N . N Y -1.012648026 7.692307692 0.990043812 9.9 . . AGPAT1 6 32168212 32178096 N . N N -0.08703502 43.03409157 0.984453681 11 . . AGPAT4 6 161129979 161274061 N Viable N Y -0.080336605 43.59553163 0.674499952 25.3 . . AGPAT5 8 6708357 6759666 N . N N -0.331611103 27.66105227 0.005794953 57.4 . . AGPAT6 8 41577187 41625001 N . N Y -0.543765506 18.41754934 0.446180355 31.5 . . AGPAT9 4 83535914 83605875 N . N N -0.074595468 44.09909128 3.04E-09 90.1 . . AGR2 7 16791811 16833433 N . N Y 0.055523327 53.73618105 0.33545507 34.7 . . AGR3 7 16859405 16881987 N . N N 0.013375229 50.50645367 3.85E-14 96.4 . . AGRP 16 67482571 67483813 N . N Y 0.033970832 52.15025757 0.090387252 43.8 DFP {Obesity, late-onset}, 601665 (3); {Leanness, inherited} (3) AGTPBP1 9 85546539 85742029 N . N N -1.201865964 5.550732187 0.476341243 30.7 . . AGTR1 3 148697784 148743008 N . N Y -0.064373744 44.83996064 0.007276251 56.4 DM {Hypertension, essential}, 145500 (3); Renal tubular dysgenesis, 267430 (3) AGTR2 X 116170722 116174972 N . N Y 0.516232886 81.10783122 0.012548958 54 DM . AGTRAP 1 11736084 11754802 N . N N 0.598768956 84.07709672 0.041663403 48.1 . . AGXT 2 240868479 240880502 N . N Y 0.551984057 82.50853736 0.003594369 59.6 DM Hyperoxaluria, primary, type 1, 259900 (3) AGXT2 5 34998101 35048135 N . N Y 0.386109337 75.21560456 4.67E-15 96.9 DM . AHCYL1 1 109984686 110023741 N . N Y -0.521256062 19.41309255 0.99979528 4.3 . . AHCYL2 7 129225023 129430211 N . N N -0.557814484 17.98923424 0.949258836 14.8 . . AHDC1 1 27534035 27604431 N . N N -1.94085036 1.794292991 0.999431448 5.3 . Xia-Gibbs syndrome, 615829 (3) AHNAK2 14 104937244 104978357 N . N N 51.16112747 100 . . DM? . AHRR 5 304176 438291 N Viable N Y -0.000219566 49.4067257 6.76E-05 73 DM? . AHSA1 14 77457870 77469474 N . N N -0.047605945 46.02072119 0.938521221 15.7 . . AHSA2 2 61177418 61191203 N Viable N Y 0.535874184 81.906581 5.61E-06 79.3 . . AHSG 3 186612923 186621318 N Viable N Y 0.31747395 71.6154425 2.86E-08 87.7 DFP . AHSP 16 31527864 31528803 N . N Y 0.283486649 69.50859524 0.00985694 55 DM . AICDA 12 8602166 8612871 N . N Y -0.160151469 38.02743532 0.001255502 63.8 DM Immunodeficiency with hyper-IgM, type 2, 605258 (3) AIDA 1 222668013 222713210 N . N N -0.214586899 34.6414308 0.082372382 44.3 . . AIF1 6 31615184 31617021 N Viable N Y 0.586485615 83.7298142 0.012798648 53.9 DP . AIF1L 9 131096476 131123152 N Viable N Y 0.343512144 73.05666493 0.0330739 49.2 . . AIFM2 10 70098223 70132934 N . N Y 0.441349938 77.95334838 1.41E-07 85.7 . . AIFM3 22 20965108 20981360 N . N N 0.560594718 82.76899925 1.96E-10 92.5 . . AIG1 6 143060496 143340304 N . N N -0.206126746 35.13920241 1.90E-05 76.4 . . AIM1L 1 26321859 26354130 N . N N . . 3.33E-07 84.4 . . AIM2 1 159062484 159147096 N . N Y -0.132857585 39.9027609 9.01E-08 86.2 . . AIMP1 4 106315544 106349226 N . N N -0.118808507 40.85199977 0.000209309 69.7 DM Leukodystrophy, hypomyelinating, 3, 260600 (3) AIPL1 17 6393693 6435199 N . N Y 0.31284098 71.27973607 0.000113411 71.5 DM Leber congenital amaurosis 4, 604393 (3); Retinitis pigmentosa, juvenile, 604393 (3); Cone-rod dystrophy, 604393 (3) AIRE 21 44285838 44298648 N . N Y 1.491204948 96.92076171 1.55E-06 81.9 DM Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3) AJ239318.1 21 13305171 13314664 N . N N . . . . . . AJAP1 1 4654732 4792534 N Viable N Y 0.255536257 67.80112288 0.977592767 12.1 . . AJUBA 14 22971174 22982642 N . N Y 0.206691474 64.80870522 0.833400048 20.5 . . AK1 9 127866480 127877743 N . N Y 0.141883914 60.31139665 0.654809128 25.9 DM Hemolytic anemia due to adenylate kinase deficiency, 612631 (3) AK2 1 33007940 33080996 N . N N 1.412189772 96.44614227 0.005565586 57.6 DM Reticular dysgenesis, 267500 (3) AK3 9 4709559 4742043 N . N N -0.285788866 30.29461133 5.63E-05 73.6 . . AK4 1 65147549 65232145 N . N N -0.08703502 43.03409157 0.236133361 37.5 . . AK5 1 77282051 77559969 N . N N -0.923562311 9.156682294 0.139499449 41.1 . . AK6 5 69350984 69370013 N . N N 0.149386991 60.95386931 . . . . AK7 14 96392111 96489427 N . N N -0.018095978 48.04653586 9.79E-09 88.9 . . AK8 9 132725578 132878777 N . N N 0.173959705 62.80604272 1.51E-07 85.6 . . AK9 6 109492856 109691217 N . N N 0.072091972 55.04427852 7.10E-12 94.4 . . AKAP1 17 57085092 57121349 N . N Y 0.225024168 65.93158534 0.561768713 28.4 . . AKAP11 13 42272153 42323267 N Viable N Y -0.11393393 41.21085837 0.896372712 17.9 . . AKAP12 6 151239999 151358557 N . N Y 1.074724744 93.69682236 0.372501822 33.5 . . AKAP14 X 119895837 119920716 N . N N 0.206542259 64.76240088 0.633383828 26.5 . . AKAP17A X 1591593 1602514 N . N N 1.491361519 96.92654975 0.713632078 24.2 . . AKAP2 9 110048598 110172512 N . N N 0.787921628 88.93326388 0.066516441 45.4 DM? . AKAP3 12 4615508 4649047 N . N N 0.660205663 85.92927013 0.026332979 50.3 . . AKAP4 X 50190768 50201013 N . N Y 0.882280274 90.76807316 0.98437775 11 . . AKAP5 14 64465499 64474503 N . N Y 0.35116309 73.45025178 0.84112954 20.2 DP . AKAP7 6 131135666 131283535 N . N Y 0.771492772 88.59755745 0.001598773 62.8 . . AKAP8 19 15353385 15379798 N . N N 0.307557959 70.8977253 0.982554657 11.4 . . AKAP8L 19 15380048 15419141 N . N N -0.156171384 38.30526133 0.542386261 28.8 . . AKAP9 7 91940867 92110673 N . N Y -0.105270668 41.75493431 2.29E-05 75.9 DM ?Long QT syndrome-11, 611820 (3) AKIP1 11 8911139 8920084 N Viable N Y 0.309821667 71.05979047 1.86E-05 76.4 . . AKIRIN1 1 38991223 39006059 N . N Y -0.096452026 42.31637437 0.67201582 25.5 . . AKNA 9 114334156 114394405 N . N N 0.994876835 92.7070672 0.02852574 50 . . AKNAD1 1 108815898 108858228 N . N N 0.80659943 89.26897031 8.21E-19 98.4 . . AKR1A1 1 45550543 45570049 N . N Y 0.300554575 70.56201887 0.000107486 71.6 . . AKR1B1 7 134442350 134459284 N . N Y -0.511838334 19.74301094 1.07E-05 77.9 DM . AKR1B10 7 134527592 134541408 N Viable N Y 0.437523469 77.762343 1.22E-05 77.6 . . AKR1B15 7 134549136 134579875 N . N N 0.64393597 85.47780286 4.53E-15 96.9 . . AKR1C1 10 4963253 5107522 N . N N 1.112980726 94.08462117 8.40E-06 78.5 . . AKR1C2 10 4922564 5135226 N . N N 0.549114755 82.41014065 0.004103172 59 DM Obesity, hyperphagia, and developmental delay (3); 46XY sex reversal 8, 614279 (3) AKR1C3 10 5035354 5107686 N . N Y 1.28093688 95.65896857 1.07E-11 94.2 DFP . AKR1C4 10 5195462 5218949 N . N N 0.742435639 87.92614459 1.68E-10 92.6 DM {46XY sex reversal 8, modifier of}, 614279 (3) AKR1D1 7 138002324 138117986 N . N N -0.352359149 26.65972102 5.69E-08 86.8 DM Bile acid synthesis defect, congenital, 2, 235555 (3) AKR1E2 10 4786629 4848062 N . N N 1.361570754 96.18568038 6.35E-06 79.1 DM . AKR7A2 1 19303965 19312146 N . N N 0.795915884 89.11848122 3.56E-06 80.2 FP . AKR7A3 1 19282558 19289250 N . N N 1.184341243 94.90652312 6.14E-10 91.6 DP . AKT1S1 19 49869033 49878459 N . N N . . 0.476648977 30.6 . . AKT2 19 40230317 40285536 N . N Y -1.017434179 7.663367483 0.997816207 7.1 DM Diabetes mellitus, type II, 125853 (3); Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3) AKT3 1 243488233 243851079 N . N Y -0.554140994 18.08184291 0.999585399 5 DM Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3) AKTIP 16 53491040 53504411 N Viable N Y -0.304623579 29.21803554 0.788012646 22 . . AL008723.1 22 32191094 32191452 N . N N . . . . . . AL021546.6 12 120438198 120460006 N . N N . . . . . . AL022578.1 X 47835953 47836793 N . N N . . . . . . AL023806.1 6 145789760 145791832 N . N N . . . . . . AL049794.1 20 16551149 16553012 N . N N . . . . . . AL049872.1 14 92070230 92071042 N . N N . . . . . . AL109927.1 1 27850574 27850744 N . N N . . . . . . AL133335.1 20 54249953 54250327 N . N N . . . . . . AL135745.1 14 64894339 64894713 N . N N . . . . . . AL135842.1 1 152511791 152512783 N . N N . . . . . . AL138706.2 13 37020528 37020772 N . N N . . . . . . AL158801.1 14 55229217 55229681 N . N N . . . . . . AL158839.1 1 70363780 70366135 N . N N . . . . . . AL162426.1 9 127742855 127743407 N . N N . . . . . . AL354828.1 13 22663953 22679652 N . N N . . . . . . AL354828.2 13 22664217 22675253 N . N N . . . . . . AL356135.1 6 61585946 61587035 N . N N . . . . . . AL356289.1 1 48102068 48104707 N . N N . . . . . . AL356585.2 13 18206570 18207469 N . N N . . . . . . AL357140.1 1 9827610 9828258 N . N N . . . . . . AL358852.1 6 149717621 149718888 N . N N . . . . . . AL365181.2 1 156597173 156599410 N . N N . . . . . . AL365202.1 9 3452305 3453987 N . N N . . . . . . AL445183.1 1 53053624 53054949 N . N N . . . . . . AL513523.2 1 153772371 153774079 N . N N . . . . . . AL589743.1 14 19300177 19302924 N . N N . . . . . . AL591806.1 1 161065865 161066153 N . N N . . . . . . AL596220.1 1 186394991 186396776 N . N N . . . . . . AL645728.1 1 1579756 1580046 N . N N . . . . . . AL645922.1 6 32006168 32007104 N . N N . . . . . . ALAD 9 113386317 113401333 N . N N 0.065090757 54.56387104 0.06295026 45.7 DM Porphyria, acute hepatic, 612740 (3); {Lead poisoning, susceptibility to}, 612740 (3) ALB 4 73397114 73421412 N . N Y -0.738695505 12.9420617 0.985726825 10.8 DM Analbuminemia, 616000 (3); [Dysalbuminemic hyperthyroxinemia], 615999 (3) ALCAM 3 105366909 105576900 N . N Y 0.17778674 63.04335243 0.988336238 10.3 DFP . ALDH16A1 19 49453169 49471048 N . N Y 1.29258323 95.72263703 1.35E-07 85.8 DP . ALDH1A1 9 72900662 73080442 N . N Y -0.320432866 28.29194883 0.993850729 8.9 FP . ALDH1B1 9 38392664 38398661 N . N N 0.070026176 54.89378943 0.000426749 67.6 . . ALDH1L1 3 126103562 126197994 N Viable N Y 0.464323039 79.03571222 9.62E-06 78.2 . . ALDH1L2 12 105019784 105084577 N . N N -0.475783963 21.19580946 3.50E-11 93.6 . . ALDH2 12 111766887 111817529 N . N Y -0.430107764 23.15216762 1.73E-06 81.6 DFP Alcohol sensitivity, acute, 610251 (3); {Hangover, susceptibility to}, 610251 (3); {Sublingual nitroglycerin, susceptibility to poor response to} (3); {Esophageal cancer, alcohol-related, susceptibility to} (3) ALDH3A1 17 19737984 19748943 N Viable N Y 0.954596424 92.08774672 1.33E-12 95.2 . . ALDH3A2 17 19648136 19677598 N . N Y -0.410469485 23.93355328 0.011288384 54.4 DM Sjogren-Larsson syndrome, 270200 (3) ALDH3B2 11 67662162 67681200 N . N N 2.841653393 99.41540777 0.000359299 68.1 . . ALDH4A1 1 18871430 18902781 N . N N 0.479017244 79.71291312 0.000434044 67.5 DM Hyperprolinemia, type II, 239510 (3) ALDH6A1 14 74056850 74084493 N . N N -0.415101607 23.69045552 1.62E-05 76.8 DM Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3) ALDH7A1 5 126541841 126595418 N . N N 0.131812033 59.53579904 1.95E-12 95 DM Epilepsy, pyridoxine-dependent, 266100 (3) ALDH8A1 6 134917390 134950122 N . N N -0.093277119 42.60577647 9.46E-06 78.2 . . ALDH9A1 1 165662216 165698863 N Viable N Y 0.369189464 74.35318632 1.29E-05 77.4 . . ALDOA 16 30053090 30070457 N . N N -0.363537126 26.20825375 0.024834403 50.5 DM Glycogen storage disease XII, 611881 (3) ALDOB 9 101420578 101435823 N . N N -0.044583575 46.25803091 0.000813754 65.5 DM Fructose intolerance, 229600 (3) ALDOC 17 28573115 28577264 N Viable N Y -0.201341563 35.40545234 0.790720532 22 . . ALG1 16 5033960 5087379 N . N N 1.374008436 96.2435608 9.22E-10 91.2 DM Congenital disorder of glycosylation, type Ik, 608540 (3) ALG10B 12 38316578 38329728 N . N N 0.715292071 87.27788389 0.000152772 70.6 DM . ALG11 13 52012398 52029664 N . N N -0.477040255 21.14950512 0.000122135 71.3 DM Congenital disorder of glycosylation, type Ip, 613661 (3) ALG12 22 49900229 49918458 N . N N 0.252968646 67.60432946 0.007881983 56 DM Congenital disorder of glycosylation, type Ig, 607143 (3) ALG14 1 94974407 95072945 N . N N 0.272306077 68.81981826 0.000832661 65.4 DM ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3) ALG1L 3 125929275 125937039 N . N N 1.057585586 93.45951265 3.26E-09 90 . . ALG1L2 3 130081831 130113227 N . N N . . . . . . ALG3 3 184242301 184249548 N . N N -0.118656486 40.85778781 4.18E-06 79.9 DM Congenital disorder of glycosylation, type Id, 601110 (3) ALG6 1 63367590 63438562 N . N N 0.369995468 74.38791457 0.055367626 46.4 DM Congenital disorder of glycosylation, type Ic, 603147 (3) ALG8 11 78100936 78139660 N . N N 0.507921503 80.78370087 1.01E-05 78 DM Congenital disorder of glycosylation, type Ih, 608104 (3) ALG9 11 111782195 111871581 N . N N -0.109391694 41.51183655 0.001225309 63.9 DM Congenital disorder of glycosylation, type Il, 608776 (3) ALK 2 29192774 29921566 N . N N -0.992073901 7.970133704 0.522362517 29.4 DM {Neuroblastoma, susceptibility to, 3}, 613014 (3) ALKBH1 14 77672404 77708020 N . N Y 0.370952088 74.45158303 2.13E-05 76.1 . . ALKBH2 12 109088188 109093631 N . N Y 0.562208663 82.80951554 0.000816686 65.5 . . ALKBH3 11 43880811 43920266 N . N Y 0.110108772 57.98460381 2.56E-09 90.3 . . ALKBH5 17 18183078 18209954 N . N Y -0.794245158 11.66869248 0.803934846 21.5 . . ALKBH6 19 36009120 36014239 N . N N 0.603404191 84.22179777 0.46893419 30.9 . . ALKBH7 19 6372433 6375251 N . N N 0.309821667 71.05979047 2.76E-06 80.7 . . ALKBH8 11 107502726 107565746 N . N Y . . 0.00282935 60.6 . . ALLC 2 3658195 3702671 N . N N 1.168376904 94.72130578 4.61E-11 93.4 . . ALMS1 2 73385758 73610793 N . N Y -1.184605549 5.730161486 3.04E-39 99.9 DM Alstrom syndrome, 203800 (3) ALOX12 17 6996065 7010736 N . N Y 0.249141007 67.41332407 6.34E-10 91.5 DFP . ALOX15 17 4630902 4642294 N . N Y 1.122706235 94.21774614 3.60E-19 98.5 DFP . ALOX15B 17 8039017 8049134 N . N N 1.480983252 96.87445737 1.92E-12 95 . . ALOX5 10 45374176 45446119 N . N Y -1.059433781 7.07877525 0.001644393 62.7 DFP {Atherosclerosis, susceptibility to} (3); {Asthma, diminished response to antileukotriene treatment in}, 600807 (3) ALOX5AP 13 30713478 30764426 N . N Y 0.071486219 54.9863981 0.846184682 20 DP {Stroke, susceptibility to}, 601367 (3) ALPI 2 232456123 232460032 N . N Y 0.713530267 87.24315564 4.03E-16 97.5 . . ALPK1 4 112285509 112442620 N . N N 0.983350829 92.57394224 1.00E-07 86.1 . . ALPK2 18 58481247 58628957 N . N N 2.025851938 98.61086994 3.56E-13 95.7 . . ALPK3 15 84816680 84873482 N . N Y 0.211762956 65.19071598 3.54E-09 89.9 . . ALPPL2 2 232406843 232410714 N . N N 0.998660862 92.73021937 6.22E-06 79.2 . . ALS2 2 201700554 201781189 N . N Y -1.60592502 2.812988366 0.000769641 65.6 DM Amyotrophic lateral sclerosis 2, juvenile, 205100 (3); Primary lateral sclerosis, juvenile, 606353 (3); Spastic paralysis, infantile onset ascending, 607225 (3) ALS2CL 3 46668997 46693704 N . N N 0.853700044 90.26451352 2.73E-18 98.3 FTV . ALS2CR11 2 201487425 201619178 N . N N . . 7.66E-11 93.1 . . ALS2CR12 2 201288271 201357398 N . N N 0.37190874 74.50946345 1.66E-10 92.6 . . ALYREF 17 81887844 81891586 N . N N -0.109544183 41.48289634 0.8318655 20.6 . . AMACR 5 33986178 34008108 N . N Y 0.248033216 67.35544365 0.125255655 41.8 DM Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3) AMBN 4 70592256 70607288 N . N Y 0.81474924 89.43103548 1.86E-05 76.4 . Amelogenesis imperfecta, type IF, 616270 (3) AMBP 9 114060127 114078472 N . N Y 0.183376188 63.43115124 4.48E-10 91.8 . . AMDHD1 12 95943293 95968716 N . N N 0.113935742 58.3145222 2.47E-06 80.9 . . AMDHD2 16 2520357 2531422 N . N N -0.502118866 20.07292933 2.64E-07 84.7 . . AMELX X 11293413 11300761 N . N Y 0.057436789 53.89824622 0.187525655 39.1 DM Amelogenesis imperfecta, type 1E, 301200 (3) AMELY Y 6865918 6874027 N . N N . . 0.002055054 61.8 DM . AMER2 13 25161684 25172288 N . N N 0.21721532 65.4974822 . . . . AMER3 2 130755435 130768134 N . N N 0.425849461 77.12565839 0.000112023 71.5 . . AMFR 16 56361452 56425538 N . N N -0.688086328 14.26173525 0.001425759 63.2 . . AMH 19 2249309 2252073 N . N Y . . 4.90E-05 74 DM Persistent Mullerian duct syndrome, type I, 261550 (3) AMHR2 12 53423855 53431534 N . N Y -0.723688873 13.31249638 5.93E-07 83.5 DM Persistent Mullerian duct syndrome, type II, 261550 (3) AMICA1 11 118193740 118225094 N . N N 0.809966306 89.33263877 0.004059094 59 . . AMIGO1 1 109504175 109509738 N . N N -0.208844572 35.00607744 0.888492589 18.3 . . AMIGO2 12 47075707 47079951 N . N N -0.628060421 15.93447937 0.545241647 28.8 . . AMIGO3 3 49716834 49719695 N Viable N Y -0.530367513 18.99635353 7.51E-06 78.8 . . AMMECR1 X 110194186 110440233 N . N N 0.047063497 53.15737686 0.910792997 17.2 . . AMMECR1L 2 127861630 127885922 N . N N 0.127834418 59.29270128 0.995586602 8.2 . . AMN1 12 31671137 31729174 N . N N -0.26151962 31.75319789 0.020102656 51.7 . . AMOTL1 11 94706431 94876753 N . N Y -0.452318052 22.1682005 0.311228186 35.4 . . AMOTL2 3 134355874 134375479 N . N N 1.043040569 93.30323552 0.207914897 38.5 . . AMPD2 1 109616104 109632051 N . N Y -1.577225576 2.928749204 0.008542497 55.5 . ?Spastic paraplegia 63, 615686 (3); Pontocerebellar hypoplasia, type 9, 615809 (3) AMPD3 11 10308313 10507579 N . N Y -0.217807755 34.4330613 1.33E-08 88.6 DM [AMP deaminase deficiency, erythrocytic], 612874 (3) AMPH 7 38383704 38631567 N . N Y -0.256429528 32.11205649 0.032266566 49.3 . . AMTN 4 70518540 70532742 N . N N 0.50027016 80.45378249 1.12E-06 82.4 . . AMY1A 1 103655290 103664554 N . N N . . 0.365183317 33.8 . . AMY1B 1 103687415 103696680 N . N N . . . . . . AMY1C 1 103750406 103758690 N . N N . . 0.844157662 20.1 . . AMY2A 1 103616811 103625780 N . N N . . 0.005603917 57.6 . . AMY2B 1 103553815 103579534 N . N N 0.307403782 70.88614922 7.65E-09 89.2 . . AMZ1 7 2679522 2775500 N . N N 2.664510789 99.2822828 5.12E-18 98.1 . . AMZ2 17 68247574 68257164 N . N N 0.269585727 68.68669329 1.55E-08 88.4 . . ANAPC1 2 111766271 111884690 N . N N -0.104962094 41.77229843 . . FTV . ANAPC10 4 144967112 145098541 N . N N 0.063983137 54.4886265 0.057568239 46.2 . . ANAPC11 17 81890790 81900991 N . N N 0.171896242 62.66134167 0.192592194 38.9 . . ANAPC13 3 134477706 134486716 N . N N 0.031100532 51.89558372 0.001349795 63.6 . . ANAPC16 10 72216000 72235860 N . N N 0.290033479 69.90218209 0.072586498 44.9 . . ANAPC5 12 121308245 121399896 N . N N -0.835282644 10.8699427 4.18E-05 74.3 . . ANAPC7 12 110372900 110403730 N . N N -0.822343474 11.1188285 0.99925787 5.6 . . ANG 14 20684177 20698971 N Viable N Y 0.269436731 68.66354112 0.224577463 37.9 DM Amyotrophic lateral sclerosis 9, 611895 (3) ANGEL1 14 76786178 76826246 N . N N 0.09253511 56.58389767 3.06E-10 92.1 . . ANGEL2 1 212992182 213015826 N . N N -0.113067189 41.2571627 0.121064259 42 FTV . ANGPT4 20 869899 916317 N . N N 0.15623458 61.48636916 2.06E-09 90.5 . . ANGPTL1 1 178849705 178871052 N . N Y 0.191835947 63.9231348 1.53E-08 88.4 . . ANGPTL2 9 127087332 127122883 N . N Y -0.861620382 10.35480697 0.182258217 39.2 . . ANGPTL3 1 62597487 62606159 N . N Y 0.047365707 53.22683336 2.12E-07 85.1 DM Hypobetalipoproteinemia, familial, 2, 605019 (3) ANGPTL4 19 8363289 8374373 Y Viable N Y 0.248033216 67.35544365 9.46E-09 89 DM Plasma triglyceride level QTL, low, 615881 (3) ANGPTL5 11 101890674 101916522 N . N N 1.16742048 94.7097297 1.75E-11 94 DM? . ANGPTL7 1 11189341 11195981 N . N N 0.029489373 51.73930659 8.44E-09 89.2 . . ANHX 12 133218312 133236095 N . N N . . . . . . ANKAR 2 189674290 189761193 N . N N 0.89601281 91.04011113 6.61E-24 99.2 . . ANKDD1A 15 64911902 64958700 N . N N 1.11408732 94.10777334 1.16E-15 97.3 . . ANKDD1B 5 75611459 75671846 N . N N . . . . . . ANKEF1 20 9986126 10058303 N . N N 0.149840497 60.9943856 2.75E-09 90.2 . . ANKFN1 17 56110958 56511659 N . N N -0.351099457 26.71181339 4.03E-06 80 . . ANKFY1 17 4163907 4263977 N . N N -1.127644115 6.320541761 0.994632888 8.5 . . ANKH 5 14704804 14871778 N . N Y -0.332568014 27.61474793 0.167376866 39.8 DM Craniometaphyseal dysplasia, 123000 (3); Chondrocalcinosis 2, 118600 (3) ANKHD1 5 140401814 140539856 N . N N -2.263665138 1.203912716 1 0.4 . . ANKHD1-EIF4EBP3 5 140401908 140549569 N . N N -2.200760416 1.273369219 1 0.4 . . ANKIB1 7 92246234 92401384 N . N N 0.250097881 67.46541645 0.999885675 3.9 . . ANKK1 11 113387791 113400418 N . N N 2.521702301 99.20125022 2.51E-08 87.9 DFP Dopamine receptor D2, reduced brain density of (3) ANKLE1 19 17281645 17287646 N . N N 2.392969988 99.0739133 8.12E-14 96.2 DP . ANKLE2 12 132725503 132761888 N . N N -0.160503316 37.97534294 7.47E-07 83.1 . . ANKMY1 2 240479422 240569209 N . N N 0.817310968 89.46576373 7.81E-14 96.2 . . ANKMY2 7 16599776 16645817 N . N N 0.152407451 61.18539098 0.000223758 69.4 . . ANKRA2 5 73552335 73565686 N . N N -0.53817717 18.67222319 0.003505038 59.7 . . ANKRD1 10 90912096 90921276 N Viable N Y 0.192642013 63.98680326 0.000250276 69.1 DM . ANKRD10 13 110878540 110915069 N . N N -0.465862421 21.6299126 0.127073152 41.7 . . ANKRD12 18 9136228 9285985 N . N Y -1.855347252 2.031602709 0.999985244 2.7 . . ANKRD13A 12 109999186 110039763 N . N N -0.368169446 25.94779186 0.350624809 34.2 . . ANKRD13B 17 29589769 29614761 N . N N -0.84389619 10.70208948 0.970860716 12.9 . . ANKRD13C 1 70260588 70354734 N . N N -0.691914915 14.19227875 0.999095558 5.8 . . ANKRD13D 11 67288547 67302485 N . N N -0.712510304 13.59032239 0.984538264 11 . . ANKRD16 10 5861617 5889906 N . N N 0.513511574 81.03837472 2.58E-06 80.8 . . ANKRD18A 9 38543253 38620660 N . N N . . 0.000945591 65 . . ANKRD18B 9 33524394 33573009 N . N N . . 0.007480147 56.3 . . ANKRD2 10 97572499 97583884 N . N Y 0.091275867 56.54338137 1.01E-06 82.5 . . ANKRD20A1 9 67859147 67902094 N . N N . . 0.864283492 19.3 . . ANKRD20A2 9 40223285 40266392 N . N N . . 0.118527454 42.2 . . ANKRD20A3 9 66106815 66153135 N . N N . . . . . . ANKRD20A4 9 64369394 64413142 N . N N . . 0.31960399 35.2 . . ANKRD22 10 88822132 88851818 N . N N 0.961805403 92.22087168 2.03E-05 76.2 . . ANKRD23 2 96824526 96857934 N . N Y -0.066287483 44.66631938 8.66E-16 97.3 . . ANKRD24 19 4183354 4224814 N . N N . . 1.87E-06 81.4 . . ANKRD26 10 26991914 27100498 N . N N 0.576407999 83.3014991 7.09E-15 96.8 DM Thrombocytopenia 2, 188000 (3) ANKRD27 19 32597007 32676597 N Viable N Y -0.824486802 11.06094808 7.79E-16 97.3 . . ANKRD28 3 15667236 15859771 N . N N -0.223547372 34.11471899 0.99992881 3.5 . . ANKRD29 18 23598926 23662885 N . N N -0.119765437 40.78833131 2.60E-05 75.6 . . ANKRD30A 10 37125788 37384111 N . N N 2.012814151 98.58771778 1.26E-23 99.2 . . ANKRD30B 18 14728272 14852738 N . N N . . 1.49E-09 90.8 . . ANKRD30BL 2 132147591 132257969 N . N N . . . . . . ANKRD31 5 75068275 75236878 N . N N . . . . . . ANKRD33 12 51887960 51891664 N . N N 0.886107801 90.86068183 1.96E-14 96.5 . . ANKRD33B 5 10564330 10657816 N . N N . . . . . . ANKRD34A 1 145959442 145964582 N . N N -0.918930637 9.231926839 0.974591387 12.5 . . ANKRD34B 5 80556755 80570488 N . N N 0.153364212 61.26642357 2.53E-09 90.3 . . ANKRD34C 15 79293285 79298235 N . N N . . . . . . ANKRD35 1 145866560 145885866 N . N N 1.207331238 95.07437634 4.68E-13 95.6 . . ANKRD36 2 97113496 97264521 N . N N . . 2.12E-19 98.5 . . ANKRD36B 2 97492663 97589965 N . N N . . . . . . ANKRD36C 2 95836919 95991831 N . N N . . . . . . ANKRD37 4 185396021 185400628 N . N N 0.467388591 79.20356543 0.005704852 57.5 . . ANKRD39 2 96836611 96858095 N . N N 0.208455225 64.9591943 0.057308291 46.3 . . ANKRD40 17 50693190 50707924 N . N N -0.142274465 39.26028824 0.313648022 35.3 . . ANKRD42 11 83193739 83260694 N . N N 0.179549296 63.17068936 2.60E-08 87.8 . . ANKRD44 2 196967017 197311173 N . N N -0.5962877 16.80268565 0.775902812 22.4 . . ANKRD45 1 173609561 173669862 N . N N 0.469300995 79.2961741 0.019887275 51.7 . . ANKRD46 8 100509752 100559784 N . N N -0.072985841 44.23221624 0.918715846 16.8 . . ANKRD49 11 94493629 94499583 N . N N -0.093581117 42.57683626 0.173264896 39.6 . . ANKRD50 4 124664052 124712732 N . N N -1.660479685 2.610406899 0.918119609 16.8 . . ANKRD52 12 56237807 56258391 N . N N -0.195448671 35.80482723 0.999987967 2.6 . . ANKRD53 2 70978380 70985499 N . N N 0.165499977 62.20408636 0.000455608 67.3 . . ANKRD54 22 37830855 37849327 N . N N 0.316368397 71.5054697 0.015308473 53 . . ANKRD55 5 56099678 56233359 N . N N -0.234877184 33.36806158 2.44E-07 84.9 . . ANKRD6 6 89433170 89633834 N Viable N Y 0.273563809 68.87191063 3.49E-07 84.3 DP . ANKRD60 20 58218495 58228653 N . N N . . . . . . ANKRD61 7 6031376 6036386 N . N N . . . . . . ANKRD62 18 12093853 12129749 N . N N . . 0.458132581 31.2 . . ANKRD63 15 40281444 40282586 N . N N . . . . . . ANKRD65 1 1418420 1421769 N . N N . . . . . . ANKRD66 6 46746917 46759506 N . N N . . . . . . ANKRD7 7 118214673 118242731 N . N N 0.423325465 77.03304972 0.007524569 56.3 . . ANKRD9 14 102501760 102509799 N . N Y . . 0.180354468 39.3 . . ANKS1A 6 34889265 35091413 N . N N -0.478506547 21.06268449 0.846859678 20 DM . ANKS1B 12 98726457 99984654 N . N Y -1.624030749 2.760895989 0.992771668 9.2 DM . ANKS3 16 4696510 4734378 N . N N 0.740985255 87.86826417 0.01235561 54.1 DM? . ANKS4B 16 21233665 21253845 N . N N -0.070919872 44.37691729 3.41E-06 80.3 . . ANKUB1 3 149761105 149968385 N . N N . . . . . . ANKZF1 2 219229757 219236669 N . N N 0.563621518 82.85581988 4.83E-14 96.3 . . ANLN 7 36389806 36453791 N . N N 0.571283847 83.1220698 0.923521452 16.5 . Focal segmental glomerulosclerosis 8, 616032 (3) ANO10 3 43354859 43691594 N . N N 0.629080409 85.03791167 1.92E-06 81.4 DM Spinocerebellar ataxia, autosomal recessive 10, 613728 (3) ANO2 12 5531869 5946232 N . N Y . . 2.85E-18 98.2 . . ANO3 11 26309599 26663288 N . N N -1.54816213 3.102390461 4.09E-13 95.6 DM Dystonia 24, 615034 (3) ANO4 12 100717526 101128641 N . N N -1.196415872 5.614400648 0.844044637 20.1 . . ANO5 11 22193176 22283357 N . N N -0.548904416 18.24969613 9.89E-16 97.3 DM Gnathodiaphyseal dysplasia, 166260 (3); Muscular dystrophy, limb-girdle, type 2L, 611307 (3); Miyoshi muscular dystrophy 3, 613319 (3) ANO7 2 241188509 241225377 N . N N 1.311601149 95.86733808 1.87E-30 99.7 DM . ANO8 19 17323223 17334829 N . N N -1.048105347 7.240840424 0.992936317 9.2 . . ANO9 11 417933 442011 N . N N -0.444814836 22.49811889 4.59E-11 93.4 . . ANOS1 X 8528874 8732187 N . N N . . . . . . ANP32A 15 68778535 68820897 N . N N -0.0579797 45.26827574 0.973870036 12.5 . . ANP32D 12 48472665 48473624 N . N N 0.368890551 74.33003415 0.147937099 40.7 . . ANP32E 1 150218417 150236156 N . N Y -0.170525669 37.3618105 0.976918663 12.2 . . ANPEP 15 89784889 89815401 N . N Y -0.350805407 26.72338948 0.000244242 69.2 . . ANTXR1 2 69013178 69249327 N . N Y -0.135576128 39.70596747 0.985283203 10.9 DM {Hemangioma, capillary infantile, susceptibility to}, 602089 (3); GAPO syndrome, 230740 (3) ANTXR2 4 79901149 80125454 N . N Y 0.009699407 50.29229612 0.405188748 32.6 DM Hyaline fibromatosis syndrome, 228600 (3) ANTXRL 10 46286345 46330207 N . N N . . 0.317924027 35.2 . . ANXA1 9 73151757 73170393 N . N Y -0.109391694 41.51183655 0.00044237 67.4 . . ANXA10 4 168092515 168187690 N . N N 0.754573317 88.21554668 1.28E-08 88.6 . . ANXA11 10 80150889 80205572 N . N N 0.317625038 71.63280662 3.46E-06 80.3 DP . ANXA13 8 123680794 123737407 N . N N 1.129901083 94.33350697 0.007256523 56.4 . . ANXA2 15 60347134 60402883 N . N Y -0.306383832 29.09069862 0.009843463 55 . . ANXA2R 5 43039081 43043170 N . N N 0.285399426 69.6822365 3.08E-06 80.5 . . ANXA3 4 78551519 78610451 N Viable N Y 0.656073283 85.80772125 2.04E-09 90.5 . . ANXA4 2 69644425 69826464 N . N N 0.086643016 56.19609886 0.000342407 68.3 . . ANXA5 4 121667955 121697113 N . N Y -0.051281473 45.6908028 3.82E-06 80.1 DFP {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3) ANXA6 5 151100712 151157882 N . N Y 0.147926643 60.87862476 0.000183002 70.1 . . ANXA8 10 47460162 47484158 N . N N . . . . . . ANXA8L1 10 46375627 46537864 N . N N . . . . . . ANXA9 1 150982017 150995634 N Viable N Y 1.530492306 97.09440296 3.36E-14 96.4 . . AOAH 7 36512949 36724549 N . N Y 0.999617879 92.75915958 6.15E-11 93.2 DP . AOC1 7 150824627 150861504 N Viable N Y 0.437025457 77.73919083 1.24E-08 88.6 . . AOC2 17 42844600 42850707 N . N N -0.410020958 23.9509174 5.14E-10 91.7 . . AOC3 17 42851184 42858130 N . N Y 0.497050585 80.34959773 6.47E-09 89.4 . . AOX1 2 200585868 200677064 N . N N -0.908809864 9.428720264 2.68E-22 99.1 FP . AP000275.65 21 32578822 32612281 N . N N . . . . . . AP000295.9 21 33246774 33283212 N . N N . . . . . . AP000304.12 21 33584687 33931607 N . N N . . . . . . AP000322.53 21 34418715 34423966 N . N N . . . . . . AP000349.2 22 23782283 23783958 N . N N . . . . . . AP000350.10 22 23862188 23895223 N . N N . . . . . . AP000721.4 11 63974620 63988346 N . N N . . 0.136411776 41.3 . . AP000866.1 11 124789244 124790069 N . N N . . . . . . AP002884.2 11 112086903 112193805 N . N N . . . . . . AP003419.11 11 67351572 67373584 N . N N . . . . . . AP005242.1 18 15057125 15066579 N . N N . . . . . . AP006285.2 11 1580492 1585989 N . N N . . . . . . AP1AR 4 112231737 112270047 N . N N -0.061655126 44.98466169 0.511166929 29.7 . . AP1B1 22 29327680 29423179 N . N N -1.28918889 4.763558488 0.991583129 9.6 . . AP1G2 14 23559565 23568070 N . N N 0.056128986 53.78827343 8.94E-14 96.1 . . AP1M2 19 10572671 10587315 N . N N -0.175004808 37.08977253 0.001345952 63.6 . . AP1S1 7 101154397 101161596 N . N N -0.074899744 44.03542282 0.520227034 29.4 DM MEDNIK syndrome, 609313 (3) AP1S2 X 15825806 15855014 N . N N 0.082665704 55.90669676 0.79261117 21.9 DM Mental retardation, X-linked syndromic 5, 304340 (3) AP1S3 2 223751686 223838027 N . N N 0.609951659 84.47647161 0.167450177 39.8 . {Psoriasis 15, pustular, susceptibility to}, 616106 (3) AP2A1 19 49766968 49807113 N . N N -0.76870886 12.24170863 0.99984728 4.1 . . AP2A2 11 924894 1012245 N Viable N Y -1.364375071 4.207906465 0.999932215 3.4 . . AP2B1 17 35578046 35726409 N . N Y -1.431107245 3.773803322 0.999667233 4.8 . . AP2S1 19 46838136 46850992 N . N N -0.014874933 48.27805753 0.919495985 16.7 DM Hypocalciuric hypercalcemia, familial, type III, 600740 (3) AP3B2 15 82659281 82709914 N . N Y -0.810712359 11.35035018 0.99006557 9.9 DM? . AP3M1 10 74120255 74151063 N . N N -0.595330347 16.85477803 0.76861788 22.6 . . AP3M2 8 42152946 42171673 N . N Y -0.359862201 26.32401459 4.40E-05 74.3 . . AP3S1 5 115841481 115914081 N Viable N Y 0.254430455 67.72009029 0.001853724 62.2 . . AP3S2 15 89830599 89894638 N Viable N Y 0.278852726 69.23076923 0.00023091 69.4 . . AP4B1 1 113894748 113905201 N . N Y -0.206628003 35.11605024 2.69E-08 87.8 DM Spastic paraplegia 47, autosomal recessive, 614066 (3) AP4E1 15 50908672 51005900 N Viable N Y -0.252453844 32.27990971 0.979862099 11.8 DM Spastic paraplegia 51, autosomal recessive, 613744 (3) AP4M1 7 100101549 100110345 N Viable N Y -0.666382202 14.85211553 2.36E-11 93.8 DM Spastic paraplegia 50, autosomal recessive, 612936 (3) AP4S1 14 31025106 31096450 N . N N 0.261933591 68.13682931 1.34E-07 85.8 DM Spastic paraplegia 52, autosomal recessive, 614067 (3) AP5B1 11 65775893 65780802 N . N N -0.060243695 45.07148232 6.97E-06 78.9 . . AP5M1 14 57268909 57298742 N . N N 0.040819533 52.64802917 0.000108637 71.6 . . AP5S1 20 3820524 3828837 N . N N 0.039711445 52.54384442 0.000277046 68.9 . . AP5Z1 7 4775622 4794312 N Viable N Y 0.640729605 85.35046594 . . . Spastic paraplegia 48, autosomal recessive, 613647 (3) APBA1 9 69427530 69672306 N . N Y -1.583775091 2.899808995 0.865841339 19.2 . . APBA2 15 28884483 29118315 N . N Y -0.507709403 19.89928807 0.073526972 44.8 DM . APBA3 19 3750819 3761699 N . N Y 0.68991226 86.66435145 2.12E-11 93.9 . . APBB1 11 6395124 6419414 N . N Y -0.043475309 46.35642762 0.986993652 10.6 DP . APBB1IP 10 26438203 26567803 N . N N -0.406641629 24.08404237 0.594392028 27.6 . . APBB2 4 40810027 41216714 N . N Y 0.124460775 59.08433177 0.039888866 48.3 . {Alzheimer disease, late-onset}, 104300 (3) APBB3 5 140558268 140593752 N . N N -0.102693711 41.95172773 1.54E-05 76.9 DP . APC2 19 1446302 1473244 N . N Y . . 0.999980518 2.8 . . APCDD1 18 10454628 10489948 N . N N -0.274305776 31.04126874 0.000654608 66.2 DM Hypotrichosis 1, 605389 (3) APCDD1L 20 58459101 58515131 N . N N 0.433846831 77.56554957 0.017559216 52.3 . . APCS 1 159587825 159588865 N . N Y 0.166306355 62.25039069 0.038637544 48.5 . {?Amyloidosis, secondary, susceptibility to} (1) APEH 3 49674002 49683963 N . N N -0.871843314 10.13486138 0.013215707 53.8 . . APELA 4 164877004 164898965 N . N N . . . . . . APEX2 X 55000357 55009057 N . N Y 0.748026206 88.05926955 0.889124801 18.2 . . APH1B 15 63276018 63309126 N . N Y 0.412144579 76.45424553 0.000234972 69.3 DFP . API5 11 43311963 43344529 N . N N -0.581281335 17.35833767 0.999555019 5.1 . . APIP 11 34853094 34916499 N Viable N Y 0.486219979 79.93864676 4.20E-10 91.9 . . APITD1 1 10430443 10442809 N . N N 0.124007879 59.04381548 0.008520901 55.6 . . APITD1-CORT 1 10430102 10452153 N . N N -0.207083847 35.09289807 0.008520901 55.6 . . APLF 2 68467561 68655862 N . N N 0.525797823 81.46668982 1.14E-17 98.1 . . APLN X 129645259 129654937 N Viable N Y . . 0.377456159 33.4 . . APLP1 19 35867899 35879791 N . N Y -0.55192045 18.15708746 0.525926956 29.3 . . APLP2 11 130069837 130144811 Y Viable N Y 0.121742358 58.84123401 0.521618003 29.4 . . APMAP 20 24962925 24992979 N . N N 0.159910445 61.75261909 2.36E-07 84.9 . . APOA1 11 116835751 116837950 N . N Y -0.143231429 39.15031545 0.048738376 47.2 DM ApoA-I and apoC-III deficiency, combined (3); Hypoalphalipoproteinemia, 604091 (3); Corneal clouding, autosomal recessive (3); Amyloidosis, 3 or more types, 105200 (3) APOA1BP 1 156591762 156594299 N . N N 0.905599564 91.18481218 1.73E-06 81.6 . . APOA2 1 161222292 161223631 N . N Y -0.073942787 44.13960757 0.009437055 55.2 DM Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3) APOA4 11 116820700 116823306 N . N Y 0.641216095 85.39677027 3.58E-05 74.8 DM . APOA5 11 116789367 116792420 N . N Y 0.224567453 65.92000926 1.38E-06 82.1 DM {Hypertriglyceridemia, susceptibility to}, 145750 (3); Hyperchylomicronemia, late-onset, 144650 (3) APOBEC1 12 7649400 7665903 N . N Y 0.696312802 86.81484054 0.000144862 70.8 . . APOBEC2 6 41053304 41064511 N . N Y 0.099735608 57.19164207 0.132007273 41.5 . . APOBEC3A 22 38952741 38992778 N . N N 0.902731639 91.12693176 0.226347919 37.8 . . APOBEC3B 22 38982347 38992804 N . N Y 2.597574415 99.23597847 2.51E-05 75.7 DFP . APOBEC3C 22 39014083 39020352 N . N N 0.362343698 74.02326793 0.092624561 43.6 . . APOBEC3D 22 39014363 39033276 N . N N 0.867273314 90.49024715 2.36E-05 75.8 . . APOBEC3F 22 39040604 39053910 N . N N 0.906704344 91.21954043 0.013960193 53.5 . . APOBEC3G 22 39040961 39087743 N . N N -0.075552304 44.00069457 1.47E-06 82 DP . APOBEC3H 22 39097224 39104067 N . N N 0.917738936 91.46263819 0.637623187 26.4 FP . APOBEC4 1 183646404 183653316 N . N N 0.670123656 86.20709614 0.000618475 66.3 . . APOBR 16 28494649 28498970 N . N N 1.296253244 95.75736528 6.30E-06 79.1 . . APOC1 19 44914247 44919349 N . N Y 0.153063769 61.21433119 0.050738273 46.9 DP . APOC2 19 44946035 44949565 N . N N 0.630550326 85.07263993 0.022796132 51 DM Hyperlipoproteinemia, type Ib, 207750 (3) APOC3 11 116829706 116833072 N . N Y 0.245014457 67.16443827 0.000678026 66.1 DM Apolipoprotein C-III deficiency, 614028 (3) APOC4 19 44942238 44945496 N Viable N Y 0.496445565 80.32644556 0.000150692 70.6 DP . APOC4-APOC2 19 44942238 44949565 N . N N . . . . . . APOD 3 195568702 195584205 N . N Y 0.324827936 72.00902935 0.000853904 65.3 FP . APOE 19 44905754 44909393 N . N Y 0.110914976 58.05984835 0.034533583 49 DM Hyperlipoproteinemia, type III (3); {Myocardial infarction susceptibility} (3); Sea-blue histiocyte disease, 269600 (3); Alzheimer disease-2, 104310 (3); {?Macular degeneration, age-related}, 603075 (3); Lipoprotein glomerulopathy, 611771 (3) APOF 12 56360569 56362823 N Viable N Y 0.473126302 79.46402732 0.019338008 51.9 . . APOL1 22 36253010 36267530 N . N N 0.77531884 88.67859003 3.75E-08 87.4 DM? {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3); {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3) APOL2 22 36226203 36239954 N . N N 0.566990485 82.96000463 0.000139187 70.9 . {Schizophrenia}, 181500 (1) APOL3 22 36140330 36166177 N . N N 0.432890148 77.54818545 2.87E-05 75.3 FTV . APOL4 22 36189124 36204840 N . N N . . 9.93E-05 71.9 . {Schizophrenia}, 181500 (1) APOL5 22 35717872 35729483 N . N N 0.674905651 86.29391677 1.01E-08 88.9 . . APOL6 22 35648395 35668409 N . N N 1.166464164 94.69815361 0.000704108 65.9 . . APOLD1 12 12725917 12829975 N . N N 0.034927599 52.21971407 0.000507905 67 . . APOM 6 31652416 31658210 N . N Y -0.306538083 29.06754645 0.008543076 55.5 DFP . APOO X 23833353 23907934 N Viable N Y 0.496445565 80.32644556 0.754113198 23 . . APOOL X 85003826 85093316 N . N N 0.502992837 80.54639116 0.866312702 19.2 . . APOPT1 14 103562962 103607523 N . N N 0.269436731 68.66354112 0.000361376 68.1 . Mitochondrial complex IV deficiency, 220110 (3) APP 21 25880550 26171128 N . N Y -1.193547275 5.643340858 0.331710617 34.8 DM Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3); Alzheimer disease 1, familial, 104300 (3) APPBP2 17 60443149 60526219 N . N N -0.405837712 24.10719454 0.999071283 5.8 . . APPL1 3 57227737 57273468 N . N Y -0.548244002 18.2728483 0.18416101 39.2 . {Maturity-onset diabetes of the young, type 14}, 616511 (3) APPL2 12 105173296 105236238 N . N N 0.405900506 76.14747931 3.53E-09 90 . . APTX 9 32972606 33025168 N . N Y -0.008982334 48.74110089 7.73E-06 78.7 DM Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) AQP10 1 154321090 154325325 N . N N -0.015680094 48.2317532 0.015278293 53 . . AQP12A 2 240691845 240698483 N . N Y . . 0.046266364 47.4 . . AQP12B 2 240676418 240682906 N . N N . . 0.004358648 58.7 . . AQP3 9 33441154 33447611 N Viable N Y -0.666689105 14.82317532 0.504827505 29.8 DM [Blood group GIL], 607457 (3) AQP4 18 26852038 26865818 N . N Y -0.374868313 25.69311802 0.018149042 52.2 DM . AQP6 12 49967194 49977139 N Viable N Y 0.739566505 87.83932396 0.211427985 38.4 . . AQP7 9 33383179 33402682 N . N Y 4.420370447 99.80899462 1.86E-09 90.6 DFP [Glycerol quantitative trait locus], 614411 (3) AQP8 16 25215731 25228940 N . N Y 0.094146026 56.71123459 0.003848216 59.2 . . AQP9 15 58138169 58185911 N . N Y 0.057587761 53.92139839 0.446614671 31.5 . . AQR 15 34851782 34969839 N . N N -1.697174078 2.465705852 0.99999882 1.8 . . AR X 67544032 67730619 N . N Y 0.326890353 72.17109452 0.99490981 8.5 DM Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3) ARAP1 11 72685069 72793599 N Viable N Y -0.381631428 25.32268334 1.50E-05 77 . . ARAP2 4 35948221 36244509 N . N N -0.52202128 19.36100017 7.56E-13 95.4 . . ARCN1 11 118572390 118603033 N . N Y -0.337353053 27.42374255 0.999850871 4.1 . . AREG 4 74445134 74455009 N Viable N Y . . 0.652354961 26 . . AREL1 14 74653437 74713115 N . N N -0.638133811 15.7318979 0.011802084 54.3 . . ARF1 1 228082660 228099212 N . N N -0.134924458 39.72911964 0.819433491 21 . . ARF3 12 48935723 48957551 N Viable N Y 0.024554204 51.41517625 0.622731324 26.8 . . ARF5 7 127588345 127591705 N . N N -0.127421372 40.23267928 0.234001127 37.6 . . ARFGAP1 20 63272785 63289793 N . N N 0.905747523 91.19060022 0.016682107 52.6 . . ARFGAP2 11 47164299 47177125 N . N N 0.262233352 68.20049777 0.562990971 28.4 . . ARFGAP3 22 42796502 42858106 N . N N 1.020214838 93.01962146 2.28E-06 81.1 . . ARFGEF1 8 67173511 67343677 N . N N -2.096888699 1.470162644 0.999999909 1.1 . . ARFGEF3 6 138161921 138344663 N . N Y . . . . . . ARFIP1 4 152687727 152918463 N . N N -0.172286507 37.23447358 0.003729023 59.3 . . ARFIP2 11 6474683 6481479 N Viable N Y -0.719211967 13.43404526 0.94293271 15.4 . . ARG2 14 67619798 67651720 N . N Y 0.297684879 70.38258957 0.542999038 28.8 . . ARGFX 3 121570704 121586634 N . N N 0.236703709 66.62615037 1.03E-05 78 . . ARGLU1 13 106541673 106568164 N . N N -0.108587205 41.55814088 0.992267193 9.4 . . ARHGAP10 4 147732063 148072780 N . N N 0.267171024 68.47832378 1.22E-10 92.8 . . ARHGAP11A 15 32615144 32639949 N . N N -0.540445085 18.55067431 0.124921594 41.8 . . ARHGAP11B 15 30624494 30772993 N . N N 0.312691067 71.2565839 0.072132343 44.9 . . ARHGAP12 10 31805404 31928876 N . N N -1.390567441 3.987960873 0.002317772 61.4 . . ARHGAP15 2 143091362 143768352 N . N Y -0.922605213 9.179834462 5.25E-06 79.4 . . ARHGAP17 16 24919385 25015666 N . N N -0.848230086 10.59790473 0.990465511 9.9 . . ARHGAP19 10 97222173 97292673 N Viable N Y -0.180594035 36.70776176 1.63E-07 85.5 . . ARHGAP19-SLIT1 10 97153045 97292637 N . N N . . 2.95E-07 84.6 . . ARHGAP20 11 110577042 110713189 N . N N -0.506607982 19.92822828 0.009020047 55.3 . . ARHGAP21 10 24583609 24723668 N . N N -2.348085481 1.076575794 0.999946673 3.3 . . ARHGAP22 10 48446034 48656265 N . N Y 0.558680874 82.74005904 0.000724652 65.8 . . ARHGAP23 17 38419280 38512392 N Viable N Y . . . . . . ARHGAP24 4 85475114 86002670 N . N N 0.30836083 70.9671818 0.004696081 58.4 DM . ARHGAP25 2 68679601 68826833 N . N Y 0.545588402 82.25965156 0.438207321 31.7 . . ARHGAP26 5 142770384 143229011 N . N N -1.387844318 4.022689124 0.9988598 6.1 . Leukemia, juvenile myelomonocytic, somatic, 607785 (3) ARHGAP27 17 45393902 45434421 N . N N -0.267759536 31.40012734 0.001255844 63.8 . . ARHGAP28 18 6729718 6915716 N . N N -0.48167256 20.94692366 0.002958419 60.3 . . ARHGAP29 1 94148988 94275068 N . N N -0.32461675 28.04306303 0.999986514 2.7 DM . ARHGAP30 1 161046946 161069970 N . N N 0.217675986 65.50327024 0.968957888 13.1 . . ARHGAP31 3 119294373 119420714 N . N N -0.359120884 26.32980263 0.999634466 4.9 DM Adams-Oliver syndrome 1, 100300 (3) ARHGAP32 11 128965060 129279324 N . N Y -1.682692814 2.494646061 0.98708852 10.6 . . ARHGAP36 X 131058242 131089883 N . N N -0.231353608 33.64009955 0.989879514 10 . . ARHGAP39 8 144529179 144605816 N . N N -1.485125489 3.438096892 0.001681796 62.6 . . ARHGAP4 X 153907367 153934999 N . N N 0.2520117 67.56381316 0.98366194 11.1 . . ARHGAP40 20 38601934 38651035 N . N N . . . . . . ARHGAP42 11 100687653 100991937 N . N N . . . . . . ARHGAP44 17 12789539 12991643 N . N N -1.539845527 3.148694797 0.999299004 5.5 . . ARHGAP6 X 11137543 11665701 N . N Y -0.101736898 42.02697228 0.991844365 9.5 DM . ARHGAP8 22 44752558 44862788 N . N N 3.441951701 99.66429357 . . . . ARHGAP9 12 57472255 57488814 N . N N 0.695806891 86.8090525 2.89E-09 90.2 DFP . ARHGDIA 17 81867721 81871406 N . N Y -0.025096816 47.5834925 0.727995864 23.8 DM Nephrotic syndrome, type 8, 615244 (3) ARHGDIB 12 14942017 14961728 N . N Y -0.410624002 23.91618915 0.000280474 68.9 . . ARHGDIG 16 268727 283010 N . N Y 0.426194468 77.17775077 0.486229755 30.4 . . ARHGEF1 19 41883161 41930150 N . N Y -0.578107514 17.41043005 0.909497464 17.3 . . ARHGEF10 8 1823976 1958641 N Viable N Y 0.218308904 65.57272675 1.11E-13 96 DM ?Slowed nerve conduction velocity, AD, 608236 (3) ARHGEF10L 1 17539835 17697874 N . N N -0.549576654 18.21496788 0.038306294 48.5 . . ARHGEF11 1 156934840 157045370 N Viable N Y -1.193980979 5.637552816 0.999945339 3.3 DP . ARHGEF16 1 3454426 3481113 N . N N 0.5127051 80.99785842 9.37E-08 86.2 . . ARHGEF17 11 73308289 73369091 N . N N -1.951878761 1.765352781 0.995257099 8.3 DP . ARHGEF19 1 16197854 16212609 N . N N 0.267974672 68.57093245 7.64E-09 89.3 . . ARHGEF2 1 155946851 156007070 N . N Y -1.315524797 4.613069399 0.999993235 2.3 . . ARHGEF25 12 57610180 57619379 N . N N 0.076572313 55.40892516 5.18E-06 79.5 . . ARHGEF26 3 154121003 154257827 N . N Y 0.392964189 75.49921861 5.99E-06 79.2 . . ARHGEF28 5 73626158 73941993 N Viable N Y 0.087404089 56.21925103 1.83E-10 92.5 DM . ARHGEF3 3 56727418 57079329 N . N N 0.303424512 70.72408404 0.991271358 9.7 . . ARHGEF33 2 38889880 38975449 N . N N . . . . . . ARHGEF35 7 144186083 144195655 N . N N . . 0.127616617 41.7 . . ARHGEF37 5 149551947 149634968 N . N N 0.946291251 91.93725763 1.08E-13 96.1 . . ARHGEF38 4 105552620 105708093 N . N N . . 0.005631717 57.6 . . ARHGEF39 9 35658875 35675866 N . N N 0.654160748 85.75562887 2.22E-08 88 . . ARHGEF4 2 130836916 131047263 N . N Y -0.306080941 29.11963883 0.068594877 45.1 DM? . ARHGEF40 14 21070270 21090240 N . N N -0.808393656 11.38507843 7.19E-05 72.8 . . ARHGEF5 7 144355288 144380632 N Viable N Y . . . . . . ARHGEF6 X 136665547 136782088 N . N Y -0.174047919 37.14186491 0.998212123 6.8 DM Mental retardation, X-linked 46, 300436 (3) ARHGEF9 X 63634967 63809274 N . N Y 0.308865253 70.99612201 0.983065394 11.3 DM Epileptic encephalopathy, early infantile, 8, 300607 (3) ARID1B 6 156777374 157210779 N . N N -1.876999975 1.97372229 0.99994993 3.3 DM Mental retardation, autosomal dominant 12, 614562 (3) ARID3C 9 34621379 34628107 N . N N 0.248033216 67.35544365 6.79E-07 83.2 . . ARID5A 2 96536743 96552638 N . N Y 0.434803554 77.64079412 0.971125744 12.9 DM? . ARIH1 15 72474326 72602985 N . N N -0.531631495 18.90953291 0.999665082 4.8 DM? . ARIH2OS 3 48917788 48919385 N . N N 0.152256873 61.16223881 0.437613435 31.7 . . ARL1 12 101393120 101407820 N . N N 0.007634404 50.08971465 0.480262743 30.6 . . ARL10 5 176365468 176401865 N Viable N Y -0.198623704 35.57909359 4.90E-05 73.9 . . ARL11 13 49628299 49633872 N . N N 0.621278951 84.78323783 8.09E-06 78.6 DP . ARL13A X 100969708 100990829 N . N N 0.223461474 65.83897667 0.007531879 56.3 . . ARL14 3 160677159 160678452 N . N N 0.59126564 83.85715113 2.57E-06 80.8 . . ARL14EP 11 30323051 30338227 N . N N -0.283071606 30.49140476 0.151697478 40.5 . . ARL14EPL 5 116051466 116060118 N . N N . . . . . . ARL15 5 53883945 54310582 N . N N 0.230008154 66.23835157 0.008866422 55.4 . . ARL16 17 81681174 81683924 N . N N -0.219218665 34.36360479 0.021572054 51.3 . . ARL17A 17 46516702 46579722 N . N N . . . . . . ARL17B 17 46274784 46361797 N . N N . . . . . . ARL2 11 65014113 65022184 N . N N 0.043387416 52.82745847 0.00739854 56.4 . . ARL2BP 16 57245098 57253635 N . N N 0.207498734 64.86658563 0.000774156 65.6 DM Retinitis pigmentosa with or without situs inversus, 615434 (3) ARL2-SNX15 11 65014182 65040570 N . N N . . . . . . ARL4A 7 12686856 12690934 N . N Y -0.034513598 46.96996006 0.6402994 26.3 . . ARL4C 2 234493041 234497053 N . N N -0.095495045 42.38583087 0.607389355 27.3 . . ARL4D 17 43398959 43401137 N . N Y -0.247470694 32.59246397 0.132429776 41.5 . . ARL5A 2 151788984 151828492 N . N N -0.064525847 44.79365631 0.017364843 52.3 . . ARL5B 10 18659405 18681639 N . N N -0.125507302 40.39474446 0.463976138 31 . . ARL5C 17 39156894 39167484 N Viable N Y . . . . . . ARL6 3 97764521 97801242 N . N Y -0.041059779 46.53585692 0.004270868 58.8 DM Bardet-Biedl syndrome 3, 600151 (3); {Bardet-Biedl syndrome 1, modifier of}, 209900 (3); ?Retinitis pigmentosa 55, 613575 (3) ARL6IP1 16 18791667 18801678 N . N N -0.192077745 36.04213695 0.006675689 56.8 . ?Spastic paraplegia 61, autosomal recessive, 615685 (3) ARL6IP4 12 122980060 122982913 N . N N . . 0.011234201 54.4 . . ARL6IP5 3 69084944 69106066 N . N Y 0.096865517 56.89645193 0.313164924 35.4 DFP . ARL6IP6 2 152717893 152761253 N . N N 0.063177242 54.40180587 0.170955561 39.7 DM? . ARL8A 1 202133404 202144743 N . N N -0.202452202 35.31863171 0.630040288 26.6 . . ARL9 4 56505343 56524448 N Viable N Y 0.403538004 75.98541413 0.397380994 32.8 . . ARMC1 8 65602456 65634217 N . N N 0.021835061 51.22417086 0.876351937 18.8 . . ARMC10 7 103074881 103099764 N . N N 0.458119953 78.71158187 0.031202217 49.5 . . ARMC12 6 35737032 35749079 N . N N 0.372865427 74.57313191 0.000270202 69 . . ARMC2 6 108848416 108974472 N . N N -0.046194419 46.1191179 2.20E-08 88 . . ARMC3 10 22928024 23038523 N . N N 0.596350229 84.00185217 4.53E-08 87.1 . . ARMC4 10 27812164 27999048 N . N N -0.022577373 47.75134572 3.96E-15 96.9 DM Ciliary dyskinesia, primary, 23, 615451 (3) ARMC5 16 31458080 31467166 N . N N 0.062827436 54.32656132 0.046292475 47.4 . ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3) ARMC6 19 19033575 19060311 N . N N -0.068854605 44.475314 7.24E-07 83.1 . . ARMC8 3 138187248 138298389 N . N N -0.645938225 15.50037622 0.99988377 3.9 . . ARMC9 2 231198546 231374837 N . N N -0.026555762 47.50245992 1.03E-08 88.9 . . ARMCX1 X 101550531 101554700 N . N N -0.387157394 25.09116166 0.395796527 32.9 . . ARMCX2 X 101655281 101659891 N . N N 0.112022239 58.14666898 0.730479736 23.7 . . ARMCX3 X 101622797 101627843 N . N N 0.109958322 57.97881577 0.249589239 37.1 . . ARMCX4 X 101418287 101533459 N . N N . . . . . . ARMCX5 X 102599168 102604159 N . N N 0.398094787 75.74231637 0.550666214 28.6 . . ARMCX6 X 101615118 101618001 N . N N 0.140927298 60.26509232 0.259563478 36.8 . . ARMS2 10 122454653 122457352 N . N N 0.281573966 69.3928344 0.039182646 48.4 DFP . ARMT1 6 151452258 151470101 N . N N . . . . . . ARNTL 11 13276652 13387266 N . N Y -0.720970763 13.3703768 0.987642967 10.5 . . ARNTL2 12 27332854 27425289 N . N N -0.375672502 25.64681368 2.37E-06 81 . . ARPC1A 7 99325898 99388164 N . N N -0.060698235 45.04254211 0.734759683 23.6 . . ARPC1B 7 99374249 99394801 N . N Y 0.141077527 60.28245644 0.156070499 40.3 . . ARPC4-TTLL3 3 9793082 9835401 N . N N 0.238919593 66.78821555 1.37E-12 95.1 . . ARPC5 1 183620846 183635757 N . N N -0.0579797 45.26827574 0.772685975 22.5 . . ARPC5L 9 124862130 124877733 N . N N -0.043930449 46.31591133 0.775599153 22.4 . . ARPIN 15 89895006 89912956 N . N N . . . . . . ARPP19 15 52547045 52569883 N . N N -0.03642736 46.82525901 0.269804298 36.5 . . ARPP21 3 35638945 35794496 N . N Y -0.364192698 26.16773745 0.003676931 59.4 . . ARR3 X 70268305 70281840 N . N N 0.129747743 59.39109799 0.137242313 41.2 . . ARRB1 11 75264182 75351705 N Viable N Y -0.201341563 35.40545234 0.986801821 10.7 . . ARRB2 17 4710489 4721499 N Viable N Y -0.14882052 38.83197314 0.769282968 22.6 . . ARRDC1 9 137605654 137615360 N Viable N Y -0.594219906 16.88950628 0.000232263 69.3 . . ARRDC2 19 18001132 18014102 N . N N 0.072745024 55.10794698 5.13E-05 73.8 . . ARRDC4 15 97960698 97973838 N . N N 0.336156875 72.63992591 0.000815443 65.5 . . ARRDC5 19 4890437 4902867 N . N N 0.18146271 63.30960236 1.98E-06 81.3 . . ARSA 22 50622754 50628173 N . N Y 0.826886131 89.70886149 8.51E-08 86.3 DM Metachromatic leukodystrophy, 250100 (3) ARSB 5 78777209 78986087 N . N Y -0.400095467 24.4197488 0.001261753 63.8 DM Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) ARSD X 2903970 2929351 N . N N 0.711616165 87.19106326 0.292872844 35.9 . . ARSE X 2934632 2968310 N . N N 0.636432699 85.26364531 0.120625325 42.1 DM Chondrodysplasia punctata, X-linked recessive, 302950 (3) ARSF X 3041471 3112726 N . N N 1.204133238 95.05701221 4.08E-07 84 DM? . ARSG 17 68259182 68422731 N . N Y -0.094233924 42.51895584 1.55E-05 76.9 . . ARSH X 3006613 3033571 N . N N 1.654392583 97.7484517 0.001600231 62.8 DM? . ARSI 5 150296343 150339307 N . N N -0.164479923 37.75539735 1.05E-09 91.1 . . ARSJ 4 113900284 113979727 N . N N -0.065178849 44.7647161 0.003455799 59.8 . . ARSK 5 95555074 95605064 N Viable N Y 0.398244896 75.74810442 0.00461421 58.5 . . ART1 11 3645128 3664416 N . N N 0.199338946 64.3514499 1.54E-09 90.8 . . ART3 4 76011184 76112802 N . N N 0.118568504 58.65022863 2.27E-08 88 . . ART4 12 14825569 14843495 N . N N 0.65702964 85.81929733 0.001451809 63.2 FP [Blood group, Dombrock], 616060 (3) ART5 11 3638503 3642316 N . N N 0.868081708 90.53076344 0.017226475 52.4 . . ARTN 1 43933320 43937241 N . N Y . . 0.293100342 35.9 . . ARV1 1 230978981 231000595 N . N N -0.233267662 33.50118655 1.55E-06 81.9 . . ARVCF 22 19969896 20016808 N . N Y 1.134211654 94.37981131 8.22E-07 82.9 DP . AS3MT 10 102869516 102901899 N . N Y 0.427150878 77.22984314 5.09E-07 83.7 FP . ASAH2 10 50182778 50248610 N . N Y . . 0.015900691 52.9 FTV . ASAH2B 10 50739318 50816495 N . N N . . 0.15486755 40.4 . . ASAP1 8 130052104 130443660 N . N N -1.55184575 3.06766221 0.999983091 2.8 . . ASAP2 2 9206765 9405683 N . N N -1.678475031 2.523586271 0.999986043 2.7 . . ASAP3 1 23428563 23484568 N . N N -0.157783196 38.16634832 2.36E-10 92.3 . . ASB1 2 238426742 238452250 N . N Y -0.314843927 28.5639868 0.350835779 34.2 DM? . ASB10 7 151175698 151187832 N Viable N Y 1.613191661 97.56323436 0.000421836 67.6 DM Glaucoma 1, open angle, F, 603383 (3) ASB11 X 15281697 15315656 N . N N 0.640110346 85.33310181 0.155409013 40.3 . . ASB12 X 64224196 64230631 N . N N 1.062221793 93.51739307 1.62E-05 76.8 . . ASB13 10 5638867 5666595 N . N N 0.139164133 60.1377554 0.257156363 36.9 . . ASB14 3 57268347 57292682 N . N N . . 6.08E-10 91.6 . . ASB15 7 123567010 123639481 N Viable N Y 0.938632293 91.84464896 6.01E-08 86.7 . . ASB16 17 44170447 44179083 N . N N 1.945327354 98.47774498 2.42E-10 92.3 . . ASB17 1 75918873 75932431 N . N N -0.051281473 45.6908028 0.006158696 57.1 . . ASB18 2 236194872 236264409 N . N N . . 0.004573374 58.6 . . ASB2 14 93934153 93976791 N . N N 1.306471588 95.83260983 4.59E-05 74.1 . . ASB3 2 53532672 53787610 N . N N -0.063265228 44.90941714 0.247642059 37.2 . . ASB4 7 95478444 95540232 N . N N 0.31284098 71.27973607 0.011019713 54.5 . . ASB5 4 176213673 176277571 N . N N -0.161912646 37.86537015 1.83E-11 94 . . ASB6 9 129634604 129642169 N . N N -0.354120223 26.60762864 0.004646337 58.5 . . ASB7 15 100602534 100651705 N . N N -0.471606334 21.36366267 0.9932441 9.1 . . ASB8 12 48147788 48181213 N . N N 0.082816117 55.93563697 0.01802853 52.2 . . ASB9 X 15235288 15270467 N . N N 0.165349748 62.17514615 0.887238949 18.3 . . ASCC1 10 72096032 72217134 N . N N 0.169176254 62.44718412 1.30E-05 77.3 DM Barrett esophagus/esophageal adenocarcinoma, 614266 (3) ASCC3 6 100508194 100881372 N . N Y -2.862513623 0.659836777 1.43E-10 92.7 DM . ASCL3 11 8937579 8938211 N . N N 0.241337169 66.9618568 0.008283971 55.7 . . ASCL4 12 107774385 107776644 N . N N . . 0.247411889 37.2 . . ASCL5 1 201113953 201127184 N . N N . . . . . . ASF1B 19 14119509 14136956 N . N N -0.250187888 32.45355096 0.565696011 28.3 . . ASGR1 17 7173431 7179564 N . N Y -0.459316521 21.9193147 0.000452324 67.3 . . ASGR2 17 7101322 7115700 N . N Y -0.070919872 44.37691729 6.64E-06 79 . . ASH1L 1 155335268 155562807 N . N Y -3.784757315 0.300978179 1 0.2 DM? . ASIC1 12 50057548 50083611 N . N Y -1.060541298 7.061411125 0.988325492 10.3 . . ASIC2 17 33013087 34174964 N . N Y -0.69271885 14.1575505 0.989195649 10.1 . . ASIC3 7 151048292 151052756 N . N Y 0.398397436 75.75389246 7.96E-07 82.9 . . ASIC4 2 219514170 219538772 N Viable N Y -0.097909737 42.2237657 0.728514783 23.8 . . ASIC5 4 155829729 155866273 N . N N 0.058695894 54.00821902 2.26E-07 85 . . ASMT X 1615001 1643081 N . N N 1.201262418 95.02228396 2.58E-13 95.8 DM . ASMTL X 1403139 1453762 N . N N 1.091897158 93.87625166 1.22E-05 77.6 FTV . ASNS 7 97852118 97872542 N . N Y -0.719056482 13.4398333 0.001665928 62.6 FP Asparagine synthetase deficiency, 615574 (3) ASNSD1 2 189661385 189670831 N . N N -0.516317865 19.57515772 1.64E-08 88.4 . . ASPDH 19 50511600 50514690 N . N N 0.26384649 68.31047057 0.001111334 64.3 . . ASPG 14 104085679 104115581 N . N N 0.550220861 82.45065694 1.18E-06 82.3 . . ASPH 8 61500556 61714640 N . N Y -0.561999192 17.86768536 1.02E-08 88.9 DM? Traboulsi syndrome, 601552 (3) ASPHD1 16 29900375 29919864 N . N N -0.769819997 12.19540429 0.120035613 42.1 . . ASPHD2 22 26429273 26445015 N . N N -0.728474054 13.19673554 0.526013416 29.3 . . ASPM 1 197084128 197146694 N . N Y -0.00656315 48.92631823 6.16E-26 99.4 DM Microcephaly 5, primary, autosomal recessive, 608716 (3) ASPN 9 92456205 92482506 N Viable N Y . . 0.023321537 50.9 DP {Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc degeneration}, 603932 (3) ASPRV1 2 69960089 69962265 N . N Y 0.157040256 61.54424958 0.091805263 43.7 DM? . ASPSCR1 17 81976807 82017406 N . N N -0.403621272 24.19401516 6.07E-08 86.7 . Alveolar soft-part sarcoma, 606243 (3) ASRGL1 11 62337448 62393412 N . N N -0.154409651 38.42681021 0.000386788 67.9 . . ASTE1 3 131013875 131027649 N . N Y 0.257600888 6.79E+01 3.39E-12 94.8 . . ASTL 2 96123850 96138436 N . N Y 0.633712862 85.17103664 3.67E-05 74.7 . . ASTN1 1 176857302 177164973 N . N Y -1.09368195 6.656248191 0.999415997 5.4 . . ASTN2 9 116425225 117415070 N . N N -1.513115903 3.276031718 0.989172284 10.1 DM . ASUN 12 26905181 26938326 N . N N -0.992051392 7.993285871 0.998587604 6.4 . . ASXL3 18 33578615 33751192 N . N N -1.466822179 3.52491752 0.999977048 2.9 DM Bainbridge-Ropers syndrome, 615485 (3) ASZ1 7 117363222 117428123 N . N Y 0.145861223 60.69919546 1.72E-06 81.6 . . ATAD1 10 87751512 87841343 N . N N -0.332721412 27.59738381 0.536354315 29 . . ATAD2 8 123319850 123416350 N . N N -1.966424754 1.73062453 0.999997953 2 . . ATAD2B 2 23748664 23927114 N Viable N Y -0.761056448 12.37483359 0.999998682 1.8 . . ATAD3B 1 1471769 1497848 N . N N 3.065512133 99.56010882 1.92E-13 95.9 . . ATAD3C 1 1449689 1470158 N . N N 2.844527514 99.42119581 4.91E-05 73.9 . . ATAT1 6 30626842 30646823 N . N Y 0.224567453 65.92000926 0.014373925 53.4 . . ATCAY 19 3879864 3928079 N . N N -0.647852776 15.44828385 0.087473326 43.9 DM Ataxia, cerebellar, Cayman type, 601238 (3) ATF1 12 50763710 50821122 N . N Y 0.067810037 54.72014817 0.663831054 25.7 DP . ATF3 1 212565334 212620777 N Viable N Y 0.155933478 61.44006483 0.276113481 36.3 DM . ATF6 1 161766294 161964070 N . N Y -0.773342052 12.10858367 3.11E-05 75.1 DP Achromatopsia 7, 616517 (3) ATF7 12 53507856 53626410 N . N Y -0.072833607 44.24958037 0.983314715 11.2 . . ATF7IP 12 14365632 14502935 N . N N -0.672639528 14.70162644 0.999741038 4.5 . . ATF7IP2 16 10326434 10483638 N . N N 0.511901029 80.95734213 0.797518042 21.8 . . ATG10 5 81972025 82276857 N . N N 0.734785964 87.69462291 0.001685054 62.6 . . ATG101 12 52069246 52077494 N . N N . . . . . . ATG12 5 115828200 115841858 N . N N 0.278852726 69.23076923 0.001658071 62.6 . . ATG13 11 46617527 46674818 N . N N 0.160867203 61.83943972 0.984296607 11.1 . . ATG14 14 55366392 55411858 N . N N -0.568034909 17.71140823 0.326846074 35 . . ATG16L2 11 72814308 72843674 N . N Y -0.088644586 42.93569485 8.94E-09 89 . . ATG2A 11 64894546 64917248 N . N N -0.43470076 22.97852636 0.99992273 3.6 . . ATG2B 14 96279202 96363870 N . N N -0.524754243 19.23366325 8.13E-05 72.5 . . ATG4A X 108091668 108154671 N . N N 0.080902701 55.81408809 0.988883247 10.2 . . ATG4C 1 62784135 62865513 N . N Y 0.456356165 78.6189732 3.33E-09 90 . . ATG4D 19 10543895 10553418 N . N N 0.061414866 54.25131678 0.000323904 68.4 . . ATG9B 7 151012209 151024499 N Viable N Y . . 1.85E-11 94 . . ATHL1 11 289135 296107 N . N N -0.154106795 38.46153846 3.53E-09 89.9 . . ATIC 2 215311817 215349773 N . N N 0.02692196 51.57724142 2.49E-13 95.8 DM AICA-ribosiduria due to ATIC deficiency, 608688 (3) ATL1 14 50532509 50633068 N . N Y -0.768862541 12.2243445 0.992118036 9.4 DM Spastic paraplegia 3A, autosomal dominant, 182600 (3); Neuropathy, hereditary sensory, type ID, 613708 (3) ATL2 2 38294880 38377285 N . N N 0.110259893 58.00196793 0.980197371 11.7 . . ATL3 11 63624087 63671921 N . N N 0.122395494 58.93963072 0.000317252 68.5 . Neuropathy, hereditary sensory, type IF, 615632 (3) ATN1 12 6924463 6942321 Y Viable N Y -0.676462075 14.59744169 0.998533107 6.5 DM Dentatorubro-pallidoluysian atrophy, 125370 (3) ATOH7 10 68230624 68232103 N . N Y 0.003001751 49.6961278 0.043020032 47.8 DM Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3) ATP10A 15 25677273 25865172 N . N N 0.159076164 61.67737454 0.611013499 27.2 DM . ATP10B 5 160563120 160852214 N . N N 1.323327674 95.93679458 1.34E-23 99.2 . . ATP10D 4 47485288 47593486 N . N N -0.123645981 40.5105053 2.24E-11 93.8 DM? . ATP11B 3 182793500 182921635 N . N N -0.187795448 36.27365862 0.992834851 9.2 . . ATP11C X 139726346 139945276 N . N N 0.065242053 54.58123517 0.999724526 4.6 . . ATP12A 13 24680411 24712493 N . N Y 0.269240739 68.64038896 9.71E-10 91.2 . . ATP13A1 19 19645198 19663693 N . N N -2.049111231 1.545407189 0.994473889 8.6 . . ATP13A2 1 16985958 17011928 N . N Y -1.134064911 6.210568965 0.001204951 64 DM Kufor-Rakeb syndrome, 606693 (3); ?Ceroid lipofuscinosis, neuronal, 12, 606693 (3) ATP13A3 3 194402672 194498364 N . N N -0.62393804 16.04445216 0.999967445 3.1 . . ATP13A4 3 193402077 193593111 N . N N -0.476451835 21.16108121 6.08E-10 91.6 DM . ATP13A5 3 193274790 193378843 N . N N 0.57990836 83.43462407 6.23E-28 99.6 DM? . ATP1A4 1 160151570 160186977 N Viable N Y 1.158642234 94.61712103 1.90E-11 94 . . ATP1B1 1 169105697 169132722 N . N N 0.180355903 63.21120565 0.995564605 8.2 DM? [Blood pressure regulation QTL], 145500 (2) ATP1B3 3 141876124 141926514 N . N N -0.214586899 34.6414308 0.641391597 26.3 . . ATP1B4 X 120362085 120383249 N . N N 0.554705396 82.60114603 0.002780625 60.7 DM? . ATP2A3 17 3923870 3964464 N . N Y -1.282372433 4.827226949 0.06445003 45.6 DM . ATP2B2 3 10324023 10708031 N . N Y -2.802705495 0.711929154 0.999921506 3.6 DM {Deafness, autosomal recessive 12, modifier of}, 601386 (3) ATP2B3 X 153517676 153582939 N . N N -0.487921954 20.6633096 0.998768934 6.2 DM ?Spinocerebellar ataxia, X-linked 1, 302500 (3) ATP2B4 1 203626561 203744081 N . N Y -0.449305125 22.31868959 0.521756389 29.4 DM? . ATP2C2 16 84368527 84464187 N . N N 0.526931574 81.50141807 . . . . ATP4A 19 35550043 35563658 N . N Y -1.476666571 3.490189269 6.99E-08 86.6 . . ATP4B 13 113648804 113658186 N . N Y 0.262082672 68.1773456 1.84E-05 76.5 . . ATP5C1 10 7788129 7807815 N . N N -0.265193969 31.55061643 0.425803631 32.1 . . ATP5D 19 1241746 1244826 N . N N . . 0.001183238 64.1 . . ATP5EP2 13 27945206 27945590 N . N N . . 0.022481607 51.1 . . ATP5F1 1 111448864 111462773 N . N N -0.438721742 22.81646119 0.012867526 53.9 . . ATP5G1 17 48892765 48895871 N . N N 0.002044933 49.63824738 0.327525829 34.9 . . ATP5G3 2 175176258 175184607 N . N N 0.06302642 54.36707762 0.538092564 28.9 . . ATP5H 17 75038863 75046985 N . N N 0.101498578 57.33634312 0.010871565 54.5 . . ATP5I 4 672436 674338 N . N N 0.144604076 60.5660705 0.207299098 38.5 . . ATP5J 21 25716503 25735673 N . N N 0.145560638 60.65289113 0.100188832 43.1 . . ATP5J2 7 99448475 99466331 N . N N 0.169983117 62.51085258 0.34850304 34.2 . . ATP5J2-PTCD1 7 99419749 99466197 N . N N 0.72039146 87.45152515 1.78E-09 90.6 . . ATP5L2 22 42639803 42640601 N . N N 0.116504775 58.48816345 0.166948561 39.9 . . ATP5O 21 33903453 33915980 N . N N 0.285399426 69.6822365 0.434076663 31.8 . . ATP5S 14 50312326 50335558 N . N N 0.567799588 82.98894484 6.30E-05 73.3 . . ATP5SL 19 41431318 41440717 N . N N 0.959081062 92.17456734 5.83E-05 73.5 FP . ATP6AP1L 5 82279462 82386977 N . N N 0.309821667 71.05979047 0.139629451 41.1 . . ATP6AP2 X 40580908 40606637 N . N N 0.049933723 53.40047462 0.785047268 22.1 DM ?Mental retardation, X-linked, syndromic, Hedera type, 300423 (3); ?Parkinsonism with spasticity, X-linked, 300911 (3) ATP6V0A2 12 123712318 123761755 N . N N -0.194341948 35.87428373 4.74E-06 79.6 DM Cutis laxa, autosomal recessive, type IIA, 219200 (3); Wrinkly skin syndrome, 278250 (3) ATP6V0B 1 43974487 43978295 N . N N -0.277483031 30.77501881 0.927635231 16.2 . . ATP6V0D1 16 67438014 67481237 N . N N -0.438721742 22.81646119 0.988131751 10.4 . . ATP6V0D2 8 85987323 86154228 N . N Y 0.492915188 80.18174452 2.37E-08 88 . . ATP6V0E1 5 172983757 173035445 N . N N -0.059893552 45.10042253 0.277597261 36.3 . . ATP6V0E2 7 149872968 149880698 N . N N 0.331374701 72.39104011 2.06E-05 76.1 . . ATP6V1A 3 113747019 113812056 N . N N 0.120481978 58.76598947 0.986543792 10.7 . . ATP6V1B1 2 70935882 70965406 N . N Y -0.432826756 23.07113504 0.00024405 69.2 DM . ATP6V1C1 8 103021063 103073051 N . N N -0.188249534 36.2562945 0.142543168 40.9 . . ATP6V1C2 2 10721649 10785110 N . N N 0.395374663 75.60919141 2.26E-06 81.1 . . ATP6V1E1 22 17592136 17628818 N . N N 0.140927298 60.26509232 0.882471623 18.5 . . ATP6V1E2 2 46490750 46542557 N . N N 0.44774765 78.23696244 9.71E-05 72 . . ATP6V1F 7 128862826 128865844 N . N N 0.086492393 56.17873473 0.56300253 28.4 . . ATP6V1G1 9 114587746 114598373 N . N N . . 0.045173671 47.6 . . ATP6V1G2 6 31544462 31548427 N . N N -0.005458152 49.05944319 0.224789736 37.8 . . ATP6V1G2-DDX39B 6 31530219 31546608 N . N N . . . . . . ATP6V1G3 1 198523222 198540945 N . N N 0.472979635 79.42351103 0.030501779 49.5 . . ATP6V1H 8 53715557 53843558 N . N N -0.659987499 15.04312091 3.86E-05 74.6 . . ATP8A1 4 42408373 42657105 N . N Y -1.552800803 3.061874168 0.999804446 4.3 . . ATP8B1 18 57646426 57803101 N . N N -0.103198421 41.9054234 3.67E-07 84.2 DM Cholestasis, progressive familial intrahepatic 1, 211600 (3); Cholestasis, benign recurrent intrahepatic, 243300 (3); Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) ATP8B2 1 154325553 154351307 N . N Y -0.776734806 12.07964346 0.999564592 5 . . ATP8B3 19 1782075 1812276 N . N Y 0.527550356 81.53614632 9.19E-22 99 . . ATP8B4 15 49858238 50182817 N . N N 0.040470343 52.57857267 2.42E-27 99.5 . . ATP9A 20 51596514 51768634 N . N N -1.883982735 1.950570122 0.999980637 2.8 . . ATP9B 18 79069285 79378283 N . N N -1.626647731 2.737743821 7.02E-12 94.4 . . ATPAF1 1 46632737 46673867 N . N N -0.025096816 47.5834925 0.236382638 37.5 . . ATPIF1 1 28236109 28246906 N . N Y -0.125507302 40.39474446 0.059353504 46.1 . . ATRAID 2 27212027 27217178 N . N N 0.113784984 58.30294611 0.007913949 56 . . ATRN 20 3471040 3651122 N . N Y -0.771141629 12.16067604 0.999999976 0.9 DM? . ATRNL1 10 115093365 115948992 N . N N -1.777826596 2.257336343 0.995631864 8.1 DM? . ATXN1 6 16299112 16761491 N . N Y -0.168962986 37.46599525 0.398661149 32.8 DM Spinocerebellar ataxia 1, 164400 (3) ATXN2L 16 28823035 28837237 N . N N -1.982389608 1.695896278 0.999950396 3.2 . . ATXN3 14 92038652 92106621 N . N Y -0.217304588 34.45621346 0.176363908 39.5 DM Machado-Joseph disease, 109150 (3) ATXN3L X 13318236 13319952 N . N N 1.183240604 94.88337096 4.32E-09 89.7 FTV . ATXN7 3 63864557 64003462 N . N N -0.752452811 12.54268681 0.928556028 16.2 DM Spinocerebellar ataxia 7, 164500 (3) ATXN7L1 7 105605067 105876604 N . N N . . 0.111091575 42.6 . . ATXN7L2 1 109483479 109492804 N . N N -0.935549769 8.936736702 0.718954812 24.1 . . ATXN7L3B 12 74537827 74545430 N . N N . . 0.097960612 43.3 . . AUH 9 91213815 91361913 N . N N 0.17380942 62.79446663 0.00725254 56.4 DM 3-methylglutaconic aciduria, type I, 250950 (3) AUNIP 1 25831913 25859458 N . N N 0.396181853 75.63234358 5.49E-08 86.8 . . AUP1 2 74526645 74529939 N . N N -0.169415642 37.44284309 0.024155048 50.7 . . AURKAIP1 1 1373730 1375495 N . N N 0.280765669 69.35810615 0.002475388 61.2 . . AURKC 19 57230802 57235548 N . N Y -0.552226052 18.13393529 0.151759586 40.5 DM . AUTS2 7 69598919 70793068 N . N N -1.87909671 1.956358164 0.996187482 7.9 DM . AVEN 15 33866227 34039176 N . N Y 0.406554426 76.19378364 5.70E-08 86.8 . . AVL9 7 32495426 32588721 N . N N -0.161760738 37.87694623 0.000325495 68.4 . . AVPI1 10 97677424 97687323 N Viable N Y 1.028384116 93.12959426 1.07E-05 77.8 . . AVPR1A 12 63142759 63150942 N . N Y 0.029489373 51.73930659 1.29E-05 77.4 DFP . AVPR1B 1 206109692 206117699 N . N Y 0.338220438 72.790415 2.82E-05 75.3 DP . AWAT1 X 70234655 70240627 N . N N 0.264802972 68.36835099 0.015095904 53.1 . . AWAT2 X 70040542 70049938 N . N N 0.101498578 57.33634312 0.603147994 27.4 . . AXDND1 1 179365720 179554735 N . N N 0.116306296 58.43607108 1.80E-15 97.2 . . AXL 19 41219203 41261766 N . N Y -0.3499951 26.79284598 0.766301151 22.7 FTV . AZGP1 7 99966720 99976157 N . N Y 0.223610811 65.85055276 0.017597583 52.3 . . AZI2 3 28315003 28349127 N . N Y -0.03627546 46.84841118 0.185308909 39.1 . . AZIN2 1 33081104 33120530 N . N N . . . . . . AZU1 19 825097 832018 N . N N 0.504095467 80.61584766 8.74E-05 72.3 . . B2M 15 44711477 44718877 N . N Y -0.044887353 46.22330266 0.856561948 19.7 DM Hypoproteinemia, hypercatabolic, 241600 (3) B3GALNT2 1 235449923 235504481 N . N N -0.068049328 44.53319442 4.87E-06 79.6 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3) B3GALT1 2 167868948 167874041 N . N N -0.211715637 34.80928402 0.329724364 34.9 . . B3GALT2 1 193179045 193186654 N . N Y -0.5962877 16.80268565 0.491100476 30.2 . . B3GALT4 6 33277132 33284832 N . N N -0.663816607 14.92736007 0.236708748 37.5 . . B3GALT5 21 39556442 39673137 N . N Y -0.314843927 28.5639868 0.003583967 59.6 . . B3GALT6 1 1232265 1235041 N . N N . . 0.048104466 47.2 DM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3); Ehlers-Danlos syndrome, progeroid type, 2, 615349 (3) B3GAT1 11 134378504 134411918 N . N Y -0.474322733 21.23632575 0.789152807 22 DM? . B3GAT2 6 70856679 70957038 N . N N -0.195752553 35.7874631 7.04E-07 83.1 . . B3GAT3 11 62615296 62622175 N . N N -0.502420818 20.06714129 0.000286975 68.8 DM Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3) B3GLCT 13 31199936 31332276 N . N N . . . . . Peters-plus syndrome, 261540 (3) B3GNT2 2 62196113 62224731 N . N Y -0.224807605 34.0336864 0.696953714 24.7 . . B3GNT3 19 17794828 17813082 N . N Y 0.0200728 51.09683394 0.20097195 38.7 DP . B3GNT4 12 122203543 122208952 N . N N -0.2423802 32.90501823 3.94E-06 80 . . B3GNT6 11 77034398 77041973 N . N Y 1.162639977 94.65763732 2.42E-06 80.9 . . B3GNT7 2 231395543 231401164 N Viable N Y -0.21156288 34.83822423 0.62084526 26.9 . . B3GNT8 19 41425359 41428730 N . N N 0.209712323 65.05759102 3.49E-07 84.3 . . B3GNT9 16 67148105 67151214 N . N N -0.240770687 32.9976269 0.022824654 51 . . B3GNTL1 17 82942155 83051810 N . N N 0.751852095 88.12872605 2.14E-11 93.9 . . B4GALNT1 12 57623410 57633355 N . N Y -0.543611442 18.44070151 0.056073773 46.4 DM Spastic paraplegia 26, autosomal recessive, 609195 (3) B4GALNT2 17 49132460 49176840 N . N Y 0.090621427 56.49707704 9.64E-07 82.6 . . B4GALNT3 12 460364 563509 N . N Y 0.809638013 89.32106268 1.06E-07 86.1 . . B4GALNT4 11 369796 382116 N . N N 0.080399727 55.73884355 0.816930491 21.1 . . B4GALT2 1 43978943 43991170 N . N Y -0.334481932 27.51635122 0.295417381 35.8 . . B4GALT3 1 161171310 161177968 N . N N -0.403923475 24.17665104 0.020822874 51.4 . . B4GALT4 3 119211732 119241103 N . N N -0.134771456 39.75805985 2.33E-06 81 . . B4GALT6 18 31622247 31685836 N . N N -0.255776741 32.13520866 0.995466888 8.2 . . B4GALT7 5 177600100 177610347 N . N N -0.477997281 21.09741275 0.003197496 60 DM Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3) BAALC 8 103140710 103230305 N . N N 0.57802637 83.37095561 5.02E-05 73.9 FP . BAAT 9 101360417 101383519 N . N N -0.059589522 45.15830295 7.96E-06 78.6 DM Hypercholanemia, familial, 607748 (3) BABAM1 19 17267350 17281249 N . N N 0.052803966 53.57411588 0.729375765 23.8 DP . BACE2 21 41167801 41282518 N . N Y -0.841981514 10.74839382 0.952644809 14.5 . . BACH2 6 89926529 90296908 N . N Y -0.351099457 26.71181339 0.874039851 18.9 . . BAD 11 64269830 64284704 N . N Y 0.253474025 67.62169358 0.000414579 67.6 . . BAG2 6 57172326 57189833 N . N N -0.186488904 36.36626729 0.088336138 43.9 . . BAG4 8 38176533 38213301 N . N Y 0.362492381 74.04063205 0.023740903 50.7 . . BAG5 14 103556544 103562831 N . N N -0.462034049 21.80355386 0.043218188 47.8 . . BAGE5 22 11066501 11068089 N . N N . . . . . . BAHD1 15 40439721 40468242 N . N Y 0.363753561 74.08114835 0.991930032 9.5 . . BAIAP2L1 7 98291651 98401068 N . N N 0.119676499 58.71968513 0.042773726 47.9 . . BAIAP2L2 22 38084889 38110670 N Viable N Y 0.335350119 72.61677375 0.000100358 71.9 . . BAIAP3 16 1333601 1349441 N . N Y -0.366482921 26.05197662 2.21E-19 98.5 . . BAK1 6 33572547 33580293 N . N Y 0.240380673 66.89818834 0.003486548 59.7 . . BAMBI 10 28677342 28682939 N Viable N Y -0.150734446 38.66411993 0.002176656 61.6 . . BANF1 11 66002079 66004149 N . N N 0.000131289 49.44145396 0.739287243 23.5 DM Nestor-Guillermo progeria syndrome, 614008 (3) BANF2 20 17693672 17735871 N . N N 0.145560638 60.65289113 0.048123609 47.2 . . BANK1 4 101411286 102074812 N . N Y 0.551331208 82.49696128 1.76E-10 92.6 DFP . BANP 16 87949244 88118422 N . N N -0.518231377 19.52306535 0.958647668 14.1 . . BARHL1 9 132582185 132590266 N . N Y -0.400249026 24.39659663 0.038438589 48.5 . . BATF 14 75522425 75547015 N . N Y -0.133967403 39.81015223 0.74490492 23.3 . . BATF2 11 64987943 64997045 N . N Y 0.652248451 85.69774845 0.029531877 49.7 . . BATF3 1 212686418 212699985 N . N Y 0.129597795 59.37952191 0.030761382 49.5 . . BAX 19 48954815 48961798 N . N Y -0.249230788 32.49406726 0.167938541 39.8 DFP Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3) BAZ1A 14 34752731 34875647 N Viable N Y -1.899823947 1.857961452 0.999999774 1.3 . . BAZ2A 12 56595596 56636816 N . N N -1.700646911 2.442553684 0.999999726 1.3 . . BAZ2B 2 159318979 159616692 N . N N -1.315754322 4.607281357 0.99992144 3.6 . . BBC3 19 47220822 47232766 N . N Y . . 0.071243538 45 . . BBS12 4 122732702 122744943 N . N Y 0.350507982 73.38658332 3.93E-07 84.1 DM Bardet-Biedl syndrome 12, 615989 (3) BBS2 16 56466836 56520283 N . N Y -0.050978291 45.70816693 1.85E-10 92.5 DM Bardet-Biedl syndrome 2, 615981 (3); Retinitis pigmentosa 74, 616562 (3) BBS5 2 169479178 169506655 N Viable N Y -0.097256408 42.28164612 0.002599365 61 DM Bardet-Biedl syndrome 5, 615983 (3) BBS9 7 33129244 33606068 N . N N -0.231857415 33.61115934 6.38E-10 91.5 DM Bardet-Biedl syndrome 9, 615986 (3) BBX 3 107522936 107811324 N . N Y -0.233770467 33.44909417 0.958097849 14.1 . . BCAM 19 44809059 44821420 N . N Y 1.43978974 96.65451178 0.036851184 48.7 FP [Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3) BCAN 1 156641390 156659532 N . N Y -0.871555489 10.14643746 0.003612125 59.5 . . BCAP29 7 107579977 107629170 N . N N 0.117611782 58.55761996 0.220058296 38 . . BCAP31 X 153700497 153724697 N . N N 0.23846774 66.7534873 0.869367471 19.1 DM Deafness, dystonia, and cerebral hypomyelination, 300475 (3) BCAR3 1 93561786 93847150 N . N Y 0.876046181 90.68704057 0.916779855 16.9 . . BCAS1 20 53936777 54070594 N . N N 0.925539471 91.61312728 0.013656996 53.6 . . BCAS2 1 114567557 114581639 N . N N -0.410624002 23.91618915 6.53E-05 73.1 . . BCAS3 17 60677453 61392838 N . N N -1.061201249 7.044046999 0.998848202 6.1 . . BCAS4 20 50794894 50882676 N . N N 0.437375642 77.75655496 0.046639324 47.4 . . BCAT1 12 24810022 24949459 N . N Y -0.099974947 42.10800486 7.05E-06 78.9 . ?Hyperleucinemia-isoleucinemia or hypervalinemia (1) BCCIP 10 125823546 125853695 N . N N 0.142034241 60.34033686 0.001654858 62.7 . . BCDIN3D 12 49836039 49843129 N . N N -0.201341563 35.40545234 0.005039148 58.1 . . BCHE 3 165772904 165837472 N . N Y 0.666596561 86.12027551 4.44E-11 93.4 DM Apnea, postanesthetic (3) BCKDHA 19 41397460 41431345 N . N N -0.444157039 22.51548301 7.66E-08 86.4 DM Maple syrup urine disease, type Ia, 248600 (3) BCKDHB 6 80106647 80346270 N . N N -0.466819625 21.58360827 2.91E-06 80.6 DM Maple syrup urine disease, type Ib, 248600 (3) BCL2A1 15 79960889 79971446 N . N Y 0.079946001 55.69832726 0.481233411 30.5 DP . BCL2L10 15 52109263 52112775 N . N Y 0.321958851 71.87011634 0.000387595 67.9 . . BCL2L12 19 49665142 49673916 N . N Y 0.731106858 87.60780228 1.56E-05 76.9 . . BCL2L13 22 17628855 17730855 N . N N 0.35035623 73.38079528 0.070274402 45.1 . . BCL2L14 12 12049844 12211084 N . N N 0.473126302 79.46402732 0.143123586 40.9 . . BCL2L15 1 113878168 113887547 N . N N 0.109958322 57.97881577 0.003614688 59.5 . . BCL2L2 14 23298790 23311759 N . N Y -0.078575026 43.76338485 0.312495748 35.4 DP . BCL2L2-PABPN1 14 23306835 23325369 N . N N -0.256733821 32.08311628 0.42596845 32.1 . . BCL3 19 44747705 44760044 N . N Y 0.297684879 70.38258957 0.862172685 19.4 . Leukemia/lymphoma, B-cell, 3 (2) BCL6B 17 7023020 7030290 N . N Y -0.746198832 12.73948023 0.151089912 40.5 . . BCL7A 12 122019422 122062044 N . N N -0.228635876 33.80216473 0.215729268 38.2 . B-cell non-Hodgkin lymphoma, high-grade (3) BCL7B 7 73536356 73558002 N . N N -0.306538083 29.06754645 0.706637384 24.5 . . BCL7C 16 30833626 30894960 N . N N 0.043387416 52.82745847 0.150443663 40.6 . . BCL9 1 147541412 147626216 N . N N -0.62066116 16.17178908 0.831846217 20.6 DM . BCL9L 11 118893875 118925608 N . N N -1.644303192 2.714591654 0.998124599 6.8 DM . BCO1 16 81238448 81291142 N . N Y . . . . . Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3) BCO2 11 112175467 112224699 N . N Y 1.546607822 97.22752793 1.83E-13 95.9 . . BCORL1 X 129981107 130058083 N . N N -0.394869643 24.65705852 0.981790312 11.5 DM? . BCR 22 23179704 23318037 N . N Y -1.399587635 3.91850437 0.999967225 3.1 DP Leukemia, chronic myeloid, somatic, 608232 (3); Leukemia, acute lymphocytic, somatic, 613065 (3) BCS1L 2 218658764 218663443 N . N Y 0.278045399 69.20761706 2.28E-08 88 DM Mitochondrial complex III deficiency, nuclear type 1, 124000 (3); Leigh syndrome, 256000 (3); Bjornstad syndrome, 262000 (3); GRACILE syndrome, 603358 (3) BDH1 3 197509783 197573323 N . N N 0.052955103 53.58569196 0.000383113 67.9 . . BDH2 4 103079435 103099883 N . N N 0.60627228 84.34334665 4.05E-06 79.9 . . BDKRB1 14 96255824 96268967 N . N Y 1.136448576 94.40296348 0.070104692 45.1 . . BDP1 5 71455615 71567820 N . N N 1.334592926 96.01203913 4.37E-11 93.5 . . BEAN1 16 66427297 66493529 N . N Y . . . . DM . BEGAIN 14 100537149 100587413 N . N N -0.240617998 33.02077907 0.890710075 18.2 . . BEND2 X 18162931 18220883 N . N N 0.35226973 73.53707241 0.34821659 34.2 DM? . BEND3 6 107065182 107115269 N . N N -1.814524443 2.170515715 0.498328913 30 . . BEND4 4 42110938 42152878 N . N N 0.153213524 61.2432714 0.986764686 10.7 . . BEND5 1 48727523 48776969 N . N N -0.545680331 18.36545697 0.114990689 42.4 . . BEND6 6 56955126 57027342 N . N N 0.211324798 65.16756381 0.135146273 41.3 . . BEND7 10 13438484 13528974 N . N N 0.335350119 72.61677375 0.011190322 54.5 . . BEST1 11 61949821 61965515 N . N Y 0.285699223 69.69381258 4.89E-08 87 DM Macular dystrophy, vitelliform, 2, 153700 (3); Bestrophinopathy, autosomal recessive, 611809 (3); Vitreoretinochoroidopathy, 193220 (3); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3); Retinitis pigmentosa-50, 613194 (3); Retinitis pigmentosa, concentric, 613194 (3) BEST2 19 12751702 12758458 N . N Y -0.539936486 18.57961452 9.02E-11 93 . . BEST3 12 69643360 69699476 N . N N 0.079442861 55.64623488 3.69E-17 97.9 . . BEST4 1 44783585 44787705 N . N N -0.175157533 37.05504428 0.003095114 60.2 . . BET1 7 93962762 94004382 N . N N 0.099585278 57.16270186 0.0020112 61.9 . . BET1L 11 167784 207428 N . N N -0.055108985 45.45349308 0.378367597 33.4 . . BEX1 X 103062651 103064240 N . N Y 0.13805751 60.04514673 0.572647843 28.2 . . BEX2 X 103309346 103311046 N . N N 0.524546884 81.42038548 0.592514905 27.7 . . BEX4 X 103215092 103217246 N . N N 0.092082157 56.56653354 0.673985987 25.4 FTV . BEX5 X 102153708 102156057 N . N N 0.053609874 53.60305609 0.016338883 52.7 . . BFAR 16 14632815 14669236 N . N N -0.181550908 36.64988135 0.002309748 61.4 . . BFSP1 20 17493905 17569220 N . N Y 0.027727205 51.63512184 0.000105944 71.7 DM Cataract 33, 611391 (3) BFSP2 3 133399995 133475222 N . N Y 0.447896377 78.26590265 6.66E-05 73.1 DM Cataract 12, multiple types, 611597 (3) BGLAP 1 156241962 156243321 N . N Y 0.495489526 80.30908144 1.76E-05 76.6 DM? . BGN X 153494939 153509554 N . N Y -0.293291902 29.80841581 0.916364713 16.9 FP . BHLHA15 7 98211427 98212979 N . N Y . . 0.142841396 40.9 . . BHLHA9 17 1270559 1271460 N . N Y . . . . DM Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3) BHLHB9 X 102720688 102753540 N . N N 0.428107326 77.30508769 0.37049796 33.6 . . BHLHE22 8 64580367 64583628 N . N Y . . 0.677980337 25.2 . . BHLHE23 20 63005927 63007035 N . N Y . . 0.060122917 46 . . BHLHE40 3 4979116 4985323 N . N Y -0.282917726 30.50876888 0.941607018 15.5 . . BHLHE41 12 26120026 26125127 N . N Y . . . . DM [Short sleeper], 612975 (3) BHMG1 19 45733251 45764534 N . N N . . . . . . BHMT 5 79111779 79132290 N Viable N Y -0.076509147 43.9370261 0.000316952 68.5 DP . BHMT2 5 79069717 79089466 N . N N 0.300554575 70.56201887 2.74E-12 94.9 . . BICD1 12 32106835 32383633 N . N N -1.388655886 3.993748915 0.144785241 40.8 DFP . BICD2 9 92711363 92764812 N . N N -1.029274527 7.495514268 0.332593897 34.8 DM Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3) BID 22 17734138 17774770 N . N Y 0.723603463 87.49782948 2.68E-07 84.7 . . BIK 22 43110748 43129712 N . N Y 0.307908866 70.93824159 2.54E-05 75.6 . . BIN2 12 51281038 51324668 N . N N -0.133662442 39.85066852 0.000209938 69.7 . . BIN3 8 22620418 22669148 N . N Y 0.58104049 83.5214447 5.99E-06 79.2 . . BIRC2 11 102347211 102378670 N . N Y -0.555747173 18.05869074 0.404455648 32.6 . . BIRC3 11 102317450 102339403 N . N Y -0.09614756 42.3337385 0.886667093 18.3 . . BIRC7 20 63235883 63240507 N . N N 0.922519097 91.57839903 0.003802906 59.3 . . BIRC8 19 53289601 53291626 N . N N 0.978724315 92.4581814 6.54E-07 83.2 . . BIVM 13 102799049 102841535 N . N N -0.508966819 19.83561961 6.43E-06 79.1 . . BIVM-ERCC5 13 102807354 102872398 N . N N . . . . . . BLACE 7 155356985 155367934 N . N N . . . . . . BLCAP 20 37492472 37527931 N . N N -0.067396649 44.56792267 0.468529446 30.9 . . BLID 11 122115354 122116215 N . N N 0.631506073 85.09579209 0.590165692 27.7 . . BLK 8 11494001 11564604 N Viable N Y -0.047151187 46.04387336 2.86E-07 84.6 DM Maturity-onset diabetes of the young, type 11, 613375 (3) BLNK 10 96191702 96271587 N . N Y 0.31747395 71.6154425 0.990011102 9.9 DM Agammaglobulinemia 4, 613502 (3) BLOC1S1 12 55716037 55720087 N . N Y 0.087449076 56.25976732 0.205801576 38.6 . . BLOC1S3 19 45178745 45181801 N . N N . . 0.01842977 52.1 DM Hermansky-Pudlak syndrome 8, 614077 (3) BLOC1S4 4 6716055 6717671 N . N N . . 0.15897212 40.2 . . BLOC1S5 6 8013567 8064414 N . N N 0.86984981 90.57706778 1.60E-05 76.8 . . BLOC1S5-TXNDC5 6 7881250 8064364 N . N N . . . . . . BLOC1S6 15 45587123 45615999 N . N N 0.327549473 72.20003473 9.82E-06 78.1 DM Hermansky-pudlak syndrome 9, 614171 (3) BLVRA 7 43758680 43807342 N . N N 0.593178019 83.91503154 0.08322203 44.2 DM Hyperbiliverdinemia, 614156 (3) BLVRB 19 40447789 40465840 N Viable N Y 0.849250529 90.19505701 4.13E-05 74.4 . . BLZF1 1 169367970 169396540 N . N Y 0.1035625 57.4868322 7.05E-06 78.9 . . BMF 15 40087890 40108892 N . N Y 0.231921074 66.33674828 0.354021066 34.1 . . BMP15 X 50910784 50916607 N . N Y 0.607228418 84.37228686 0.053543924 46.6 DM Ovarian dysgenesis 2, 300510 (3); Premature ovarian failure 4, 300510 (3) BMP2K 4 78776342 78916372 N . N N 0.092839903 56.58968571 0.001916525 62 DP . BMP3 4 81030965 81057531 N . N Y 0.230307728 66.27307982 0.110241118 42.6 DM? . BMP6 6 7726797 7881422 N . N Y 0.407661641 76.23429994 0.895081718 17.9 . . BMP8A 1 39491646 39525935 N . N Y . . 0.456963119 31.2 . . BMPR1B 4 94757968 95158448 N . N Y -0.098061234 42.21218962 0.991704371 9.5 DM Brachydactyly, type A2, 112600 (3); Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3) BMX X 15464246 15556529 N Viable N Y -0.077465999 43.85599352 0.583862245 27.8 . . BNC1 15 83255903 83284716 N . N Y -1.278818335 4.850379117 0.886168665 18.4 . . BNIP1 5 173144442 173164387 N . N N 0.016245619 50.75533947 0.001436928 63.2 . . BNIP2 15 59659146 59689534 N Viable N Y -0.292334822 29.87208427 1.69E-05 76.7 . . BNIP3 10 131966455 131982013 N . N Y 0.04243066 52.74063784 0.048726846 47.2 . . BNIP3L 8 26382898 26505636 N . N Y -0.298077744 29.55953001 0.330817931 34.8 . . BNIPL 1 151036570 151047600 N . N N 0.663576603 86.05081901 1.03E-09 91.1 . . BOC 3 113211003 113287459 N Viable N Y 0.040470343 52.57857267 0.004727486 58.4 . . BOD1 5 173607514 173616660 N . N N 0.078032613 55.54205012 0.031829615 49.4 . . BOD1L1 4 13568738 13627723 N . N N 0.526689032 81.49563003 0.999528154 5.1 . . BOD1L2 18 57147062 57150300 N . N N 0.624002642 84.88163454 0.510146461 29.7 . . BOK 2 241558721 241574138 N Viable N Y 0.133424212 59.69786421 0.318891848 35.2 . . BOLA1 1 149887890 149900798 N . N N 0.421412982 76.87677259 0.634184001 26.5 . . BOLA2 16 29453593 29454964 N Viable N Y . . . . . . BOLA2B 16 30192934 30194306 N . N N . . . . . . BOLA3 2 74135398 74147994 N . N N 0.31158679 71.14082306 0.418296316 32.3 DM Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) BOLL 2 197726879 197786762 N . N Y 0.180355903 63.21120565 0.007902184 56 . . BOP1 8 144262102 144291370 N . N N . . 0.526839489 29.2 . . BORA 13 72727749 72756198 N . N N 0.122395494 58.93963072 0.000692705 66 . . BPGM 7 134646808 134679813 N . N N -0.031643 47.17832957 0.126322244 41.7 DM Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3) BPHL 6 3118374 3153578 N . N Y 0.510642281 80.89946171 0.000194971 69.9 . . BPI 20 38260149 38337505 N . N N 1.464059313 96.79342478 8.86E-09 89.1 DP . BPIFA1 20 33235995 33243311 N . N Y -0.2707828 31.23227412 3.60E-05 74.7 DFP . BPIFA2 20 33161768 33181412 N . N N 0.577215218 83.32465127 0.002664863 60.8 . . BPIFA3 20 33217310 33227758 N . N N 0.928110403 91.68837182 0.00040926 67.7 DM? . BPIFB1 20 33273480 33309878 N Viable N Y 1.111216243 94.07304509 5.77E-07 83.5 . . BPIFB2 20 33007600 33023709 N . N N 0.239724325 66.86346009 7.69E-08 86.4 . . BPIFB3 20 33055424 33073628 N Viable N Y 1.028675391 93.14695838 1.27E-05 77.4 . . BPIFB4 20 33079644 33111751 N . N N 0.105779404 57.64889738 3.47E-17 97.9 . . BPIFB6 20 33031648 33044047 N . N N 0.467686361 79.23250564 1.20E-11 94.2 . . BPIFC 22 32413847 32464484 N . N N 0.891697353 90.98801875 3.13E-06 80.5 . . BPNT1 1 220057482 220090462 N . N Y 0.083772833 56.01666956 0.000218975 69.6 . . BPY2 Y 22973819 23005465 N . N N . . . . . . BPY2B Y 24607560 24639207 N . N N . . . . . . BPY2C Y 25030901 25062548 N . N N . . . . . . BRAT1 7 2537877 2555727 N . N N 0.865830993 90.46130694 3.86E-09 89.8 DM Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) BRCC3 X 155071420 155123074 N . N N 0.273114451 68.84297042 0.033967074 49.1 DM . BRD3 9 134030305 134068535 N . N N -1.030375296 7.4723621 0.766979379 22.7 . . BRD9 5 850291 892824 N . N N -0.837196214 10.83521445 0.249187874 37.1 . . BRDT 1 91949371 92014426 N . N Y 0.305643473 70.8282688 2.47E-06 80.9 . . BRE 2 27889941 28338901 N . N Y -0.549354042 18.22075592 0.279976283 36.2 . . BRF1 14 105209286 105315589 N . N N -1.225333658 5.353938763 0.634632788 26.5 . Cerebellofaciodental syndrome, 616202 (3) BRF2 8 37843268 37849904 N . N N -0.087687764 42.98199919 1.88E-09 90.6 . . BRI3 7 98252379 98310441 N . N N 0.032057299 51.99976848 0.015258414 53.1 . . BRI3BP 12 124993700 125031231 N . N N 0.013375229 50.50645367 0.125132505 41.8 . . BRICD5 16 2209253 2211950 N . N N 0.946942523 91.94304567 1.62E-10 92.6 . . BRINP1 9 119153458 119369467 N . N N -0.751640611 12.56005093 0.995424258 8.2 . . BRINP2 1 177171497 177282422 N . N N 0.263342657 68.24101406 0.999086308 5.8 . . BRINP3 1 190097662 190478404 N . N N -0.722583176 13.34722463 0.003759093 59.3 . . BRIP1 17 61681266 61863521 N . N N -1.34622475 4.341031429 5.38E-13 95.5 DM Breast cancer, early-onset, 114480 (3); Fanconi anemia, complementation group J, 609054 (3) BRIX1 5 34915376 34925996 N . N N 0.241337169 66.9618568 0.981126894 11.6 . . BRMS1L 14 35826318 35932325 N . N N 0.035884366 52.28917057 0.368282761 33.7 . . BROX 1 222712553 222735196 N . N N -0.684411658 14.4064363 2.48E-05 75.7 . . BRPF1 3 9731729 9748018 N . N Y -2.128819974 1.406494183 0.999626031 4.9 . . BRS3 X 136487887 136493780 N . N Y 0.181312488 63.27487411 0.888203115 18.3 . . BRSK1 19 55282072 55312533 N . N Y -1.302579215 4.699890027 0.993996393 8.8 . . BRSK2 11 1389899 1462689 N . N Y -1.397115963 3.941656538 0.779570081 22.3 DM? . BRWD1 21 39184176 39321559 N . N N -1.738951772 2.326792846 0.999999462 1.5 DM? . BRWD3 X 80670854 80809688 N . N Y -1.564127144 2.975053539 0.999999996 0.7 DM Mental retardation, X-linked 93, 300659 (3) BSDC1 1 32365103 32394731 N . N N -0.266954701 31.4637958 0.482345221 30.5 . . BSN 3 49554489 49671545 N . N Y -3.238120662 0.491983562 0.999999992 0.8 . . BSPH1 19 47968046 47992170 N . N N . . . . . . BSPRY 9 113349541 113371233 N . N Y 0.233983822 66.4640852 9.79E-05 72 . . BST1 4 15702950 15738313 N . N Y 0.479673105 79.74185333 2.81E-08 87.7 DP . BST2 19 17402939 17405648 N . N Y 0.087449076 56.25976732 0.000608699 66.4 . . BSX 11 122977570 122981720 N . N Y 0.346381025 73.21294206 0.136321314 41.3 . . BTAF1 10 91923769 92030325 N . N N -2.485355169 0.978179082 1 0.4 DM . BTBD1 15 83016422 83067354 N . N N -0.41429797 23.70781964 0.014946424 53.2 . . BTBD10 11 13388001 13463297 N . N N -0.391788739 24.87121607 0.477320145 30.6 . . BTBD11 12 107318413 107659642 N . N N -0.945777407 8.792035654 0.993432981 9 . . BTBD16 10 122271306 122338162 N Viable N Y 0.545588402 82.25965156 3.41E-12 94.8 . . BTBD17 17 74356416 74361946 N . N N . . 0.010834936 54.6 . . BTBD18 11 57743514 57751781 N . N N . . . . . . BTBD19 1 44808482 44815585 N . N N . . . . . . BTBD2 19 1985438 2034881 N . N N -1.134621455 6.198992881 0.987678942 10.5 . . BTBD3 20 11890723 11926609 N . N N -0.093428832 42.59420038 0.061421577 45.8 . . BTBD6 14 105248490 105251093 N . N N -0.696546643 14.05336575 0.000422096 67.6 . . BTBD7 14 93237550 93333092 N . N N -0.891201395 9.770214736 0.682366257 25.1 . . BTBD8 1 92080305 92147836 N . N N -0.345813209 26.95491115 1.30E-06 82.2 . . BTBD9 6 38168451 38640148 N Viable N Y -1.32126329 4.55518898 0.005732994 57.5 DP . BTC 4 74744759 74794686 N . N Y 0.914871845 91.3816056 0.116138687 42.3 DFP . BTD 3 15601341 15645822 N . N Y 0.280109924 69.32916594 1.29E-06 82.2 DM . BTF3L4 1 52056125 52090716 N . N N 0.091125502 56.52022921 0.451300212 31.3 . . BTG1 12 92140278 92145897 N . N N -0.170525669 37.3618105 0.483157589 30.5 . . BTG2 1 203305491 203309602 N Viable N Y 0.04051715 52.61908896 0.048978487 47.1 . . BTG3 21 17593653 17612947 N . N Y -0.132053341 39.94906523 0.696545555 24.7 . . BTG4 11 111467526 111512354 N . N N -0.161108498 37.92903861 0.256389241 36.9 . . BTK X 101349447 101390796 N . N Y -0.01663693 48.16808474 0.99956322 5 DM Agammaglobulinemia, X-linked 1, 300755 (3); Agammaglobulinemia and isolated hormone deficiency, 307200 (3) BTLA 3 112463968 112499561 N . N Y -0.063568931 44.88047693 0.430977023 31.9 DFP . BTN1A1 6 26501221 26510422 N . N Y 1.184341243 94.90652312 1.14E-09 91 DM? . BTN2A1 6 26457904 26476621 N . N N 0.95842552 92.1687793 1.07E-18 98.4 DFP . BTN2A2 6 26383096 26394874 N . N N 1.239738972 95.37535452 0.000150288 70.6 . . BTN3A1 6 26402237 26415216 N . N N 0.608332922 84.41280315 8.65E-07 82.8 . . BTN3A2 6 26365159 26378320 N . N N 0.376541981 74.76413729 0.000124519 71.2 . . BTN3A3 6 26440472 26453415 N . N N 1.064433402 93.55212132 7.19E-10 91.4 . . BTNL2 6 32393963 32407128 N . N N . . 2.03E-07 85.1 DFP {Sarcoidosis, susceptibility to, 2}, 612387 (3) BTNL3 5 180988845 181006727 N . N N 0.915971805 91.40475777 0.039637148 48.4 . . BTNL8 5 180899077 180950906 N . N N 1.607601722 97.52850611 0.000235088 69.3 FP . BTNL9 5 181040225 181061523 N . N N 0.035230174 52.24286624 6.53E-10 91.5 . . BTRC 10 101354033 101557321 N Viable N Y 0.082967032 55.94721306 0.863167824 19.4 DM? . BUD13 11 116748170 116772988 N . N N 0.060609534 54.16449615 0.002295428 61.5 . . BUD31 7 99408641 99419616 N . N N -0.209955284 34.90768073 0.417010233 32.3 . . BVES 6 105096822 105137174 N Viable N Y -0.102845596 41.94593969 0.000308543 68.5 DM . BZRAP1 17 58301228 58328760 N . N N 1.98033341 98.55298952 0.056626408 46.3 . . BZW1 2 200810594 200827338 N . N N -0.396575171 24.57602593 0.744805847 23.3 . . BZW2 7 16646131 16706523 N Viable N Y -0.656313373 15.18203392 0.995822418 8.1 . . C10orf10 10 44970981 44978810 N . N N 0.46275405 78.96625572 3.87E-05 74.6 . . C10orf105 10 71711701 71737824 N . N N . . . . . . C10orf107 10 61662961 61766766 N . N N 0.022791848 51.2704752 0.00079093 65.5 . . C10orf11 10 75431453 76560167 N . N Y -0.091667236 42.70417318 0.041056618 48.2 DM Albinism, oculocutaneous, type VII, 615179 (3) C10orf113 10 21125763 21146559 N . N N 0.809821032 89.32685073 0.007537782 56.3 . . C10orf12 10 96981284 96986212 N . N N -0.23825608 33.15969208 0.979876887 11.7 . . C10orf120 10 122697709 122699822 N . N Y 0.414057549 76.56421832 1.30E-06 82.2 . . C10orf128 10 49154725 49188585 N . N N 0.572434794 83.18573826 0.045128478 47.6 . . C10orf131 10 95907603 95938723 N . N N . . . . . . C10orf142 10 44292569 44294649 N . N N . . . . . . C10orf32 10 102854223 102864961 N . N N -0.021421177 47.83816635 0.031637861 49.4 . . C10orf32-ASMT 10 102854272 102901899 N . N N . . . . . . C10orf35 10 69630251 69633599 N . N N 0.207498734 64.86658563 0.068371581 45.2 . . C10orf53 10 49679651 49710261 N . N N 0.443922687 78.05174509 0.00106877 64.5 . . C10orf54 10 71747559 71773498 N . N N 0.58199694 83.58511316 0.385978708 33.1 . . C10orf55 10 73909969 73922777 N . N N . . 0.005065636 58 . . C10orf62 10 97589727 97590934 N . N N 0.766711782 88.47600857 9.87E-05 71.9 . . C10orf67 10 23267195 23344845 N . N N . . 1.97E-06 81.3 . . C10orf71 10 49299193 49327487 N . N N 1.773824872 98.12467442 9.35E-05 72.1 . . C10orf82 10 116663696 116670264 N . N N 0.513364317 81.01522255 0.003878381 59.2 . . C10orf88 10 122930903 122954403 N . N N 0.460989431 78.87943509 0.038585003 48.5 . . C10orf90 10 126424997 126670446 N . N N 0.81873272 89.4889159 6.06E-11 93.2 . . C10orf99 10 84173738 84185294 N . N N 0.184032836 63.46009145 0.08244671 44.3 . . C11orf1 11 111878935 111885975 N . N N 0.306952505 70.86878509 7.81E-07 83 . . C11orf16 11 8920076 8933006 N . N N 0.382281971 75.03617526 4.79E-06 79.6 . . C11orf21 11 2295645 2303049 N . N N . . . . . . C11orf24 11 68261335 68272001 N . N N 0.096210753 56.84435955 0.030766321 49.5 . . C11orf30 11 76444923 76553025 N . N N -1.793790937 2.211032008 0.999997097 2 . . C11orf31 11 57741250 57743554 N . N N 0.055523327 53.73618105 0.000781712 65.6 . . C11orf40 11 4571423 4577820 N . N N 0.532195638 81.73293975 4.85E-08 87 DM . C11orf42 11 6205566 6211132 N . N N 0.233983822 66.4640852 3.05E-06 80.5 . . C11orf45 11 128899565 128906035 N . N N 0.307908866 70.93824159 0.013711288 53.6 . . C11orf49 11 46936689 47164385 N . N N 0.077377607 55.48416971 5.45E-07 83.6 . . C11orf52 11 111918032 111926872 N . N N 0.351015356 73.42131157 0.023724378 50.7 . . C11orf53 11 111255982 111286401 N . N N 0.381175578 74.97829484 7.53E-05 72.8 . . C11orf54 11 93741591 93764749 N . N N 0.075313076 55.32210453 0.007358555 56.4 . . C11orf57 11 112074086 112085150 N . N N -0.31116943 28.88232911 0.913210186 17.1 . . C11orf58 11 16613132 16756881 N . N N -0.11145818 41.38449962 0.709037216 24.4 . . C11orf63 11 122882528 122959798 N . N N 0.076724269 55.4147132 1.16E-11 94.2 . . C11orf65 11 108308519 108467531 N . N N 0.418691306 76.76679979 8.78E-17 97.7 DP . C11orf68 11 65916808 65919117 N . N N -0.23518181 33.35069746 0.409498865 32.5 . . C11orf70 11 102047443 102084560 N . N N -0.455642657 22.04665162 8.93E-06 78.3 . . C11orf71 11 114391443 114400550 N . N N 0.427960039 77.28193552 0.008424815 55.6 . . C11orf74 11 36594493 36659290 N . N N 0.672846598 86.25918852 0.007620751 56.2 . . C11orf80 11 66744451 66843328 N . N N -0.389874437 24.9580367 0.008462596 55.6 . . C11orf84 11 63813388 63827718 N . N N 0.908468236 91.25426868 0.471418765 30.8 . . C11orf85 11 64937517 64972085 N . N N -0.061655126 44.98466169 0.007357188 56.4 . . C11orf86 11 66975277 66977004 N . N N . . . . . . C11orf87 11 109422120 109429114 N . N N -0.008177066 48.7989813 0.245098741 37.2 . . C11orf88 11 111514785 111537031 N . N N 0.778851069 88.76541066 0.098613658 43.2 . . C11orf91 11 33698261 33700801 N . N N . . . . . . C11orf94 11 45906513 45907282 N . N N 0.5630196 82.82687967 0.000289638 68.8 . . C11orf95 11 63759892 63768775 N . N N . . . . . . C11orf96 11 43925342 43944338 N . N N . . . . . . C11orf98 11 62662816 62665217 N . N N . . . . . . C12orf10 12 53299686 53307177 N . N Y 0.229350964 66.18625919 2.44E-06 80.9 DFP . C12orf29 12 88033846 88050160 N . N N -0.401206279 24.32714013 2.46E-05 75.7 . . C12orf4 12 4487728 4538508 N Viable N Y -0.927391577 9.098801875 9.83E-05 71.9 . . C12orf40 12 39626167 39908300 N . N N 0.455550929 78.57845691 1.15E-19 98.6 . . C12orf42 12 103237591 103496010 N . N N 0.471362413 79.35984257 2.29E-07 85 . . C12orf43 12 121000486 121016502 N . N Y 0.008742604 50.21705157 2.56E-07 84.8 . . C12orf45 12 104986310 105049737 N . N N 0.271349605 68.75614979 0.389486545 33 . . C12orf49 12 116710185 116738070 N . N N 0.18881556 63.69161313 0.045210317 47.6 . . C12orf50 12 87980035 88034037 N . N N 0.461946007 78.93152746 0.000154448 70.6 . . C12orf54 12 48482503 48496512 N . N N 0.533962119 81.81976038 0.004167354 58.9 . . C12orf56 12 64264762 64391192 N . N N 0.308057642 70.95560572 2.91E-11 93.7 . . C12orf57 12 6942978 6946003 N . N N 0.028381319 51.66985009 0.060336064 46 DM Temtamy syndrome, 218340 (3) C12orf60 12 14803572 14906586 N Viable N Y 0.780762778 88.79435087 0.006292168 57 . . C12orf65 12 123232916 123257959 N . N N -0.040102903 46.61110146 0.17232859 39.7 DM Combined oxidative phosphorylation deficiency 7, 613559 (3); Spastic paraplegia 55, autosomal recessive, 615035 (3) C12orf66 12 64186316 64222296 N . N N -0.367365256 26.00567228 0.7577885 22.9 DM? . C12orf71 12 27081058 27082514 N . N N 0.295771879 70.24367656 0.36033075 33.9 . . C12orf73 12 103950202 103965708 N . N N . . . . . . C12orf74 12 92702843 92708549 N . N N 0.416778578 76.67419112 0.000522237 66.9 DM? . C12orf75 12 105235290 105396097 N . N N . . . . . . C12orf76 12 110027028 110073686 N . N N 0.167113525 62.29669503 0.000101301 71.8 . . C12orf79 12 91984976 92142914 N . N N . . . . . . C14orf1 14 75649791 75661189 N . N N 0.093038818 56.61283788 0.891783234 18.1 . . C14orf105 14 57469301 57493867 N . N N 0.829607924 89.778318 0.000136147 71 DM? . C14orf119 14 23094765 23100462 N . N N 0.374481231 74.6541645 0.002761662 60.7 . . C14orf142 14 93202894 93207094 N . N N 0.426047805 77.14302252 0.190974081 39 . . C14orf159 14 91060333 91225632 N . N N 0.630192747 85.0552758 2.07E-14 96.5 . . C14orf166 14 51989475 52010691 N . N N -0.01663693 48.16808474 0.666285716 25.6 . . C14orf169 14 73490964 73493392 N . N N . . . . . . C14orf177 14 98711613 98717761 N . N N 0.406406543 76.17063148 0.006747015 56.8 . . C14orf178 14 77760830 77769742 N . N N 0.289077164 69.85587776 0.008523424 55.6 . . C14orf180 14 104579684 104590515 N . N N . . 0.01343143 53.7 . . C14orf2 14 103912288 103928269 N . N N 0.242145304 67.0023731 0.65863463 25.8 . . C14orf28 14 44897295 44907257 N . N N 0.130704421 59.46634254 2.08E-10 92.4 . . C14orf37 14 57999735 58298139 N . N N 0.690218668 86.67013949 8.27E-05 72.4 . . C14orf39 14 60396469 60515543 N . N N 0.264147024 68.34519882 0.00852079 55.6 . . C14orf79 14 104985775 105010482 N . N N 0.40846756 76.27481623 5.13E-08 86.9 . . C14orf80 14 105489855 105499575 N . N N . . 0.001222281 63.9 . . C14orf93 14 22985908 23010166 N . N N 0.167413441 62.33142328 0.032127772 49.3 . . C15orf26 15 81007033 81149175 N . N N -0.317715301 28.40770967 0.835174204 20.5 . . C15orf27 15 76059837 76229121 N . N N -0.031339741 47.22463391 1.48E-08 88.5 . . C15orf38-AP3S2 15 89834308 89912882 N . N N 0.33630686 72.651502 1.04E-09 91.1 . . C15orf39 15 75195643 75212169 N . N N 0.820810314 89.53522023 0.919030415 16.7 . . C15orf40 15 82988441 83011641 N . N N 0.674758577 86.28812873 0.268492643 36.5 . . C15orf41 15 36579611 36810248 N . N N 0.218827885 65.61903108 0.015552565 53 . Dyserythropoietic anemia, congenital, type Ib, 615631 (3) C15orf43 15 44956702 44979229 N . N N 0.172852824 62.72501013 0.000137585 70.9 . . C15orf48 15 45430529 45448761 N . N N 0.214045409 65.29490074 0.000404125 67.7 . . C15orf52 15 40331452 40340967 N . N N 0.947092883 91.96619784 0.002576941 61 . . C15orf53 15 38696598 38700038 N . N N 0.194405525 64.08519998 0.093609809 43.5 . . C15orf57 15 40528683 40565057 N . N N 0.132467594 59.58789142 0.611394297 27.2 . . C15orf59 15 73735431 73752747 N . N N 0.042581773 52.76957805 0.244691482 37.3 . . C15orf61 15 67521068 67530143 N . N N . . . . . . C15orf62 15 40770080 40772449 N . N N . . . . FTV . C15orf65 15 55408548 55418764 N . N N . . 0.360932048 33.9 . . C16orf13 16 634427 636366 N . N N . . 0.004537254 58.6 . . C16orf45 16 15434295 15625028 N . N N 0.097822207 56.98327256 0.214680178 38.3 . . C16orf46 16 81053497 81077267 N . N N 0.934804937 91.79255658 5.35E-06 79.4 . . C16orf52 16 22007638 22087534 N . N N . . . . . . C16orf54 16 29742463 29746006 N . N N . . 0.668080508 25.6 . . C16orf58 16 31489471 31509309 N . N N 0.105475995 57.64310934 1.18E-10 92.9 . . C16orf59 16 2460080 2464963 N . N N -0.407598535 24.04931412 1.92E-08 88.2 . . C16orf62 16 19555240 19706793 N . N N 0.13131254 59.48370666 1.29E-05 77.4 . . C16orf70 16 67109958 67148539 N . N N -0.398334639 24.51814551 0.803545517 21.5 . . C16orf71 16 4734272 4749396 N . N N 0.405900506 76.14747931 1.38E-13 96 . . C16orf72 16 9091648 9121640 N . N N 0.087449076 56.25976732 0.986081397 10.8 . . C16orf74 16 85690084 85751129 N . N N . . 0.024048646 50.7 . . C16orf78 16 49373823 49399431 N . N N 0.427150878 77.22984314 4.19E-06 79.9 . . C16orf86 16 67666816 67668758 N . N N 0.122244706 58.89332639 0.652428951 26 . . C16orf87 16 46796607 46831411 N . N N -0.112415198 41.29189095 0.097478782 43.3 . . C16orf90 16 3493484 3495480 N . N N 1.045302804 93.3148116 0.002406448 61.2 . . C16orf91 16 1419744 1420800 N . N N 0.215958347 65.40487353 3.85E-07 84.1 . . C16orf92 16 30023334 30027736 N . N N 0.260977174 68.09052498 0.01892544 52 . . C16orf93 16 30757423 30762710 N . N N 0.305187971 70.79932859 8.00E-05 72.6 . . C16orf95 16 87083562 87317420 N . N N . . . . . . C16orf96 16 4556490 4600714 N . N N . . 0.070287805 45 . . C17orf100 17 6651914 6652270 N . N N . . 0.003778342 59.3 . . C17orf104 17 44656404 44690308 N . N N 0.130855251 59.47791862 0.978536145 12 . . C17orf105 17 43780435 43787612 N Viable N Y . . . . . . C17orf107 17 4899418 4902932 N . N N . . . . . . C17orf47 17 58541587 58544368 N . N N 0.064285248 5.45E+01 1.30E-05 77.3 . . C17orf49 17 7014495 7017525 N . N N -0.22208995 34.19575158 0.007622931 56.2 . . C17orf50 17 35760897 35765079 N . N N . . 0.007952764 56 . . C17orf51 17 21524790 21574458 N . N N . . . . . . C17orf53 17 44141906 44162476 N . N N 0.743543456 87.94929675 5.99E-08 86.7 DP . C17orf58 17 67991101 67993649 N . N N -0.079531963 43.66498813 0.082156416 44.3 . . C17orf59 17 8188333 8190907 N . N N 0.1249645 59.10748394 . . . . C17orf62 17 82442589 82450829 N . N Y 0.626870269 84.96845517 0.000955064 64.9 . . C17orf64 17 60392429 60431421 N Viable N Y 0.102455237 57.40579962 0.013804092 53.6 . . C17orf67 17 56791913 56838773 N . N N . . 2.48E-05 75.7 . . C17orf74 17 7425615 7427568 N . N N 0.676013937 86.32285698 2.15E-06 81.2 . . C17orf75 17 32324565 32350023 N . N N 0.138207453 60.05093477 0.980996283 11.6 . . C17orf78 17 37375986 37392708 N . N N 0.157846676 61.58476587 0.004075283 59 . . C17orf80 17 73232233 73248947 N . N N 0.843958731 90.09087226 2.54E-07 84.8 . . C17orf85 17 3802165 3846251 N . N N 0.025662211 51.48463275 0.992974565 9.2 . . C17orf89 17 81239239 81241281 N . N N . . 0.372022649 33.6 . . C17orf96 17 38671703 38675421 N . N N . . . . . . C17orf97 17 410327 431062 N . N N 1.018301315 92.98489321 2.03E-05 76.2 . . C17orf98 17 38835088 38841455 N . N N 0.194405525 64.08519998 0.457750608 31.2 . . C17orf99 17 78146353 78166177 N . N N . . . . . . C18orf21 18 35972083 35979286 N . N N 0.202865163 64.54245529 0.002771518 60.7 . . C18orf25 18 46173553 46266991 N . N N -0.27637172 30.86762748 0.90199634 17.7 . . C18orf32 18 49477250 49492565 N . N N 0.244058053 67.12392198 0.182752689 39.2 . . C18orf42 18 5145285 5197503 N . N N . . . . . . C18orf54 18 54357917 54385218 N . N N 0.697415576 86.86114487 6.01E-06 79.2 . . C18orf63 18 74315813 74359187 N . N N . . . . . . C18orf8 18 23503470 23531807 N . N N 0.210669154 65.1386236 0.999882357 3.9 . . C19orf12 19 29698886 29715789 N . N N 0.13438084 59.79626092 0.667745724 25.6 DM Neurodegeneration with brain iron accumulation 4, 614298 (3); ?Spastic paraplegia 43, autosomal recessive, 615043 (3) C19orf18 19 57958437 57974534 N . N N 0.461797774 78.90258725 6.22E-05 73.3 . . C19orf24 19 1275438 1279249 N . N N . . . . . . C19orf25 19 1461143 1479556 N . N N . . 0.034363222 49 . . C19orf33 19 38304161 38305009 N . N N -0.037384251 46.76159055 0.269214272 36.5 . . C19orf35 19 2274622 2282176 N . N N . . 0.006354567 57 . . C19orf38 19 10836575 10869790 N Viable N Y . . . . . . C19orf43 19 12730640 12734775 N . N N . . 0.310238874 35.5 . . C19orf44 19 16496311 16521352 N . N N -0.313584016 28.64501939 4.22E-07 84 . . C19orf45 19 7492976 7508450 N Viable N Y 0.751852095 88.12872605 2.71E-15 97 . . C19orf47 19 40319536 40348527 N . N N -0.562445944 17.85610928 0.802242559 21.6 . . C19orf48 19 50797704 50804929 N . N N 0.799450376 89.14742143 0.55106013 28.6 DP . C19orf52 19 10928733 10933535 N . N N . . 0.001989919 61.9 . . C19orf53 19 13774168 13778462 N . N N 0.740377707 87.845112 0.236661552 37.5 . . C19orf54 19 40740856 40751553 N . N N 0.89331644 91.01695896 0.001265945 63.8 . . C19orf57 19 13882348 13906452 N . N N 0.982851246 92.56236615 7.18E-05 72.9 . . C19orf60 19 18588685 18592336 N . N N . . 0.249879078 37.1 . . C19orf66 19 10086122 10093252 N . N N 0.13438084 59.79626092 0.930534705 16.1 . . C19orf68 19 48170692 48197620 N . N N . . . . . . C19orf70 19 5678421 5680896 N . N N -0.051433536 45.65607455 0.015922184 52.9 . . C19orf71 19 3539154 3544030 N . N N . . . . . . C19orf73 19 49118397 49119140 N . N N 0.422369205 76.96359322 0.484013121 30.4 . . C19orf80 19 11237450 11241943 N . N Y . . 2.61E-06 80.8 DP . C19orf81 19 50649445 50659310 N . N N . . . . . . C19orf84 19 51388289 51390574 N . N N . . . . . . C1D 2 68041130 68110948 N . N N 0.169983117 62.51085258 0.365972887 33.8 . . C1orf100 1 244352635 244389663 N . N N 0.353884195 73.67019737 3.54E-08 87.4 . . C1orf101 1 244454377 244641177 N . N N 0.093491966 56.65914221 5.89E-07 83.5 . . C1orf105 1 172420688 172468831 N . N N 0.732874214 87.64253053 0.000319848 68.5 . . C1orf106 1 200891048 200915735 N . N N 0.623339387 84.85848238 0.555282613 28.5 . . C1orf109 1 37681570 37692249 N . N N 0.26384649 68.31047057 6.27E-08 86.7 . . C1orf110 1 162824458 162868815 N . N N 0.525648717 81.46090178 1.06E-05 77.9 . . C1orf111 1 162373203 162376870 N . N N 0.412144579 76.45424553 2.10E-05 76.1 . . C1orf115 1 220689845 220699157 N . N N . . 0.283640867 36.1 . . C1orf116 1 207018521 207032756 N . N N 1.085986995 93.8125832 0.371958032 33.6 . . C1orf122 1 37806979 37809454 N . N N . . 0.1232465 42 . . C1orf123 1 53214099 53220617 N . N N -0.161108498 37.92903861 1.26E-07 85.9 . . C1orf127 1 10946471 10982037 N . N Y 1.332815197 95.994675 1.33E-05 77.3 DM? . C1orf131 1 231223763 231241187 N . N N 0.299597983 70.48098628 1.77E-07 85.3 . . C1orf141 1 67092165 67231853 N . N N -0.024945118 47.60085663 2.70E-05 75.5 . . C1orf145 1 228203506 228213664 N . N N . . 0.097680709 43.3 . . C1orf146 1 92217940 92245813 N . N N 0.24597088 67.24547086 0.02404793 50.7 . . C1orf158 1 12746215 12763699 N . N N 0.598768956 84.07709672 1.57E-08 88.4 . . C1orf159 1 1081818 1116361 N . N N . . 0.090877636 43.7 . . C1orf162 1 111473792 111478512 N . N N 0.366978017 74.20848527 0.006131316 57.1 . . C1orf167 1 11761787 11789585 N . N N . . 0.155526802 40.3 . . C1orf168 1 56718804 56819696 N . N N 0.14329444 60.44452162 2.36E-30 99.7 DM? . C1orf174 1 3889125 3900293 N . N Y 0.805185239 89.25160618 0.018742502 52 . . C1orf177 1 54806063 54842252 N . N N 0.841893045 90.05035596 2.53E-11 93.7 . . C1orf185 1 51102234 51148086 N . N N . . . . . . C1orf186 1 206037231 206102459 N . N N 0.073399639 55.17740348 0.001895127 62.1 . . C1orf189 1 154199372 154206333 N . N N 0.320046263 71.77750767 0.000114765 71.4 . . C1orf194 1 109105951 109113857 N . N N 0.837924022 89.95195925 2.50E-07 84.8 . . C1orf198 1 230837119 230869589 N . N Y 0.183225703 63.41957516 0.027375276 50.2 . . C1orf204 1 159834474 159855347 N . N N . . 0.093368149 43.6 . . C1orf21 1 184387058 184629020 N . N N 0.099585278 57.16270186 0.819116614 21 . . C1orf210 1 43281883 43285617 N . N N 0.268480327 68.6056607 0.001219636 63.9 . . C1orf216 1 35713875 35719472 N . N N 0.530283168 81.66927129 0.128378758 41.6 . . C1orf226 1 162366908 162386818 N . N N 0.141883914 60.31139665 0.723357169 24 . . C1orf228 1 44674692 44725591 N . N N . . . . . . C1orf233 1 1598012 1600096 N . N N . . . . . . C1orf234 1 23010834 23015850 N . N N . . . . . . C1orf27 1 186375758 186421378 N . N N 0.176679292 62.95653181 1.38E-06 82.1 . . C1orf35 1 228100726 228105411 N . N N 0.307908866 70.93824159 0.074007037 44.8 . . C1orf43 1 154206706 154220628 N . N N -0.31116943 28.88232911 0.173985957 39.6 . . C1orf50 1 42767269 42794493 N . N N 0.200952107 64.44405857 0.007015926 56.6 . . C1orf52 1 85249953 85259672 N . N N 0.073399639 55.17740348 0.359076552 33.9 . . C1orf53 1 197902647 197907367 N . N N 0.509540192 80.83000521 0.104698727 42.8 . . C1orf54 1 150268200 150280916 N . N N -0.245556279 32.71401285 0.178651547 39.4 FTV . C1orf56 1 151047740 151051986 N . N Y -0.064373744 44.83996064 0.001317284 63.7 . . C1orf61 1 156404250 156430701 N . N N -0.072985841 44.23221624 0.10442249 42.9 . . C1orf64 1 16004236 16008807 N . N N 0.621278951 84.78323783 0.010559209 54.7 . . C1orf68 1 152719522 152720470 N . N N . . . . . . C1orf74 1 209779208 209784559 N . N N -0.161108498 37.92903861 0.489345231 30.3 . . C1orf87 1 59987269 60073770 N . N N 1.037136038 93.22799097 1.58E-17 98 . . C1orf94 1 34166883 34219131 N . N N 0.430170878 77.43821265 0.00437226 58.7 . . C1orf95 1 226548800 226609214 N . N N -0.09740902 42.25270591 0.092054081 43.6 . . C1QA 1 22636506 22639608 N Viable N Y 0.149386991 60.95386931 0.049789979 47 DM C1q deficiency, 613652 (3) C1QB 1 22652762 22661538 N Viable N Y -0.181703531 36.63251722 0.085881049 44 DM C1q deficiency, 613652 (3) C1QC 1 22643630 22648110 N . N N -0.357145068 26.46871563 0.017381903 52.3 DM C1q deficiency, 613652 (3) C1QL1 17 44959693 44968071 N . N N -0.03259986 47.11466111 . . . . C1QL2 2 119156243 119158889 N . N N -0.005458152 49.05944319 0.396068457 32.9 . . C1QL3 10 16513743 16522005 N . N N -0.148973548 38.82039706 0.718803252 24.1 . . C1QL4 12 49332411 49337188 N . N N 0.079946001 55.69832726 0.621177258 26.9 . . C1QTNF1 17 79022814 79049788 N . N N -0.200384589 35.4691208 7.24E-05 72.8 . . C1QTNF2 5 160347751 160370641 N Viable N Y 0.127984973 59.3100654 0.001358535 63.5 . . C1QTNF3 5 34019448 34043832 N . N Y -0.339267298 27.29640563 0.000296344 68.7 . . C1QTNF3-AMACR 5 33987174 34124528 N . N N . . . . . . C1QTNF4 11 47589664 47594659 N . N N . . 0.679081391 25.2 . . C1QTNF5 11 119338942 119340883 N Viable N Y -0.103955104 41.8649071 0.830646789 20.6 DM Retinal degeneration, late-onset, autosomal dominant, 605670 (3) C1QTNF6 22 37180167 37199385 N . N N 0.505051907 80.64478787 0.023789385 50.7 . . C1QTNF7 4 15339818 15446166 N Viable N Y -0.088796495 42.91254269 0.019910131 51.7 . . C1QTNF8 16 1090005 1096244 N . N N 0.448703989 78.31799502 8.98E-11 93 . . C1QTNF9 13 24307166 24322535 N . N N 1.018154755 92.97910517 0.169231076 39.8 . . C1QTNF9B 13 23891099 23902655 N . N N 1.18338473 94.889159 0.040010474 48.3 . . C1R 12 7080209 7092607 N . N N . . . . DM C1r/C1s deficiency, combined, 216950 (1) C1RL 12 7089587 7109273 N Viable N Y 0.306294697 70.83984488 0.000277417 68.9 . . C1S 12 6988259 7071032 N . N N -0.2423802 32.90501823 0.863410048 19.4 DM C1s deficiency, 613783 (3) C2 6 31897785 31945672 N . N N 0.02692196 51.57724142 1.38E-06 82.1 DM C2 deficiency, 217000 (3); {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) C20orf141 20 2814987 2815833 N . N N 0.112828307 58.21033744 0.000122911 71.3 . . C20orf173 20 35523186 35529652 N . N N . . . . . . C20orf194 20 3249305 3407625 N Viable N Y -0.778645282 12.05070325 0.006004692 57.2 . . C20orf195 20 63547891 63556708 N . N N -0.52956212 19.03686983 0.000298557 68.7 . . C20orf196 20 5750393 5863912 N . N N 0.187858986 63.66846096 0.333004444 34.8 . . C20orf202 20 1203454 1208274 N . N N . . . . . . C20orf24 20 36605734 36612557 N . N N 0.063983137 54.4886265 0.856745481 19.6 . . C20orf27 20 3753508 3768387 N . N N 0.045300934 53.00688777 0.027098916 50.2 . . C20orf62 20 44451984 44465344 N . N N . . . . . . C20orf85 20 58150904 58161150 N . N N 1.104378711 93.98622446 1.38E-05 77.2 . . C20orf96 20 270863 290778 N . N N 0.47695229 79.62609249 7.45E-13 95.4 . . C21orf140 21 34400317 34401072 N . N N . . . . . . C21orf2 21 44328944 44339402 N . N N 1.412189772 96.44614227 0.013530383 53.6 DM? . C21orf33 21 44133605 44145723 N . N N 0.330566867 72.36788794 0.001172128 64.1 . . C21orf58 21 46300181 46323875 N . N N 0.167262974 62.32563524 3.74E-09 89.9 . . C21orf59 21 32592079 32612866 N . N N 0.252666418 67.59275337 0.000141358 70.8 . . C21orf62 21 32790674 32813743 N . N Y 0.218827885 65.61903108 0.057627844 46.2 . . C21orf91 21 17788967 17819386 N . N N 0.440244459 77.90125601 0.00484582 58.3 DP . C22orf15 22 23763021 23765861 N . N N . . 0.081346646 44.4 . . C22orf23 22 37943050 37953669 N . N N 0.400815894 75.88122938 2.51E-06 80.8 . . C22orf29 22 19846138 19854896 N . N N 0.846527348 90.14296464 5.81E-06 79.2 . . C22orf31 22 29058672 29061844 N . N N 0.170132915 62.53400475 2.32E-05 75.8 . . C22orf39 22 19351368 19448232 N . N N . . 3.69E-07 84.2 . . C22orf42 22 32149006 32159322 N . N N 1.298669382 95.78630549 1.42E-06 82 . . C22orf46 22 41688939 41698136 N . N N . . . . . . C2CD2 21 41885112 41953890 N . N N -0.423410291 23.40684147 0.060028248 46 . . C2CD2L 11 119102198 119118544 N . N N -0.023836771 47.69925334 0.99815174 6.8 . . C2CD4A 15 62066977 62070917 N . N N . . 0.088805803 43.8 . . C2CD4B 15 62163535 62165283 N . N N . . 0.496545387 30.1 . . C2CD4C 19 405438 409170 N . N N . . . . . . C2CD4D 1 151837819 151840557 N . N N . . . . . . C2CD5 12 22448583 22544546 N . N N -0.487112477 20.69224981 8.69E-07 82.8 . . C2orf15 2 99141485 99151487 N . N N 0.236554885 66.60299821 0.543252453 28.8 . . C2orf16 2 27576522 27582720 N . N N 0.340290591 72.88881171 3.92E-17 97.9 . . C2orf40 2 106063246 106078159 N . N N 0.830420398 89.79568212 0.001678641 62.6 . . C2orf42 2 70149880 70248615 N . N N -0.369126321 25.91885165 0.134381994 41.4 DM? . C2orf44 2 24029340 24049575 N . N N -0.091363535 42.7215373 0.001441348 63.2 . . C2orf47 2 199955317 200008540 N . N N -0.195752553 35.7874631 0.00977968 55 . . C2orf49 2 105337359 105349211 N . N N 0.273262571 68.86033455 0.192673532 38.9 . . C2orf50 2 11133053 11146790 N . N N 0.619366893 84.74272154 0.003602248 59.5 . . C2orf54 2 240886048 240896889 N . N Y 0.586779993 83.75296637 6.77E-06 79 . . C2orf57 2 231592901 231594283 N . N N 0.864403486 90.43236673 0.002295965 61.4 . . C2orf61 2 47045538 47155378 N . N N 0.939294228 91.85622504 0.014100347 53.5 . . C2orf66 2 196805002 196810276 N . N N 0.069572814 54.86484922 0.004547084 58.6 . . C2orf68 2 85606654 85612066 N . N N 0.118418051 58.60971233 0.012486499 54 . . C2orf69 2 199911256 199955935 N . N N 0.33887786 72.80777913 0.432171539 31.9 . . C2orf70 2 26562582 26579532 N . N N 1.280794407 95.65318053 0.000944694 65 . . C2orf71 2 29060976 29074261 N . N N 1.358924118 96.16831626 5.65E-10 91.6 DM Retinitis pigmentosa 54, 613428 (3) C2orf72 2 231037490 231049719 N . N N . . . . . . C2orf73 2 54330034 54383742 N Viable N Y 0.460841539 78.85628292 0.000860168 65.3 . . C2orf74 2 61145068 61164829 N . N N . . . . . . C2orf76 2 119302225 119366828 N . N N 0.275983486 69.05712797 0.003332056 59.9 . . C2orf78 2 73784189 73817147 N . N N -0.151236787 38.62360363 6.92E-05 72.9 . . C2orf81 2 74414176 74421591 N . N N . . . . . . C2orf82 2 232857270 232878708 N . N N . . 0.466831049 30.9 . . C2orf83 2 227610090 227633320 N . N N 0.578982235 83.39989582 0.050110607 47 . . C2orf88 2 189879609 190203484 N . N N 0.30503986 70.79354055 0.023588527 50.8 . . C2orf91 2 41935368 41954266 N . N N . . . . . . C3 19 6677704 6730562 N Viable N Y -3.093538981 0.567228107 0.999590151 4.9 DM C3 deficiency, 613779 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3); {Macular degeneration, age-related, 9}, 611378 (3) C3AR1 12 8058302 8066471 N . N Y 0.025813593 51.49042079 4.69E-05 74 DM? . C3orf14 3 62318973 62336213 N Viable N Y 0.230008154 66.23835157 1.60E-06 81.8 . . C3orf18 3 50558025 50571027 N . N N 0.193448992 64.03889564 0.014308008 53.4 . . C3orf20 3 14675099 14773034 N . N N 0.744817967 87.97244892 2.36E-14 96.5 . . C3orf22 3 126526999 126558965 N . N N -0.071071979 44.35376512 0.127310951 41.7 . . C3orf30 3 119146150 119160042 N . N N 1.6272439 97.60375065 1.65E-06 81.7 . . C3orf33 3 155762617 155806351 N . N N 0.657839783 85.8424495 1.52E-07 85.6 . . C3orf36 3 133928145 133929812 N . N N 0.399859596 75.829137 0.003672537 59.4 . . C3orf38 3 88149743 88168729 N . N N 0.162629888 61.97256468 0.006998783 56.6 . . C3orf49 3 63819362 63848636 N . N N . . . . . . C3orf52 3 112086335 112131004 N . N N . . 1.27E-08 88.6 . . C3orf58 3 143971798 144048719 N . N N -0.522213436 19.34942409 0.162503916 40.1 . . C3orf62 3 49268602 49277909 N . N N 0.159759922 61.72946692 0.007124659 56.5 . . C3orf67 3 58717365 59050084 N . N N -0.093277119 42.60577647 1.51E-05 77 . . C3orf70 3 185078050 185153014 N . N N 0.16167322 61.90310818 0.002390948 61.3 . . C3orf80 3 160225636 160228213 N . N N . . . . . . C3orf84 3 49177632 49191858 N . N N 0.171896242 62.66134167 0.000221292 69.5 . . C4A 6 31982024 32002681 N . N N . . . . DM C4a deficiency, 614380 (3); [Blood group, Rodgers], 614374 (3) C4B 6 32014762 32035418 N . N Y . . . . DM C4B deficiency, 614379 (3) C4BPA 1 207104262 207144972 N . N N -0.07268182 44.25536841 0.012739358 54 DM? . C4BPB 1 207088842 207099993 N . N N -0.015680094 48.2317532 2.58E-06 80.8 . . C4orf17 4 99511004 99542303 N . N N 0.838067604 89.96932338 5.65E-09 89.5 . . C4orf19 4 37453941 37623495 N . N N 0.669167441 86.18394397 0.00416046 58.9 . . C4orf22 4 80335720 80963756 N Viable N Y 0.477760474 79.6550327 1.12E-05 77.8 . . C4orf26 4 75556048 75565885 N . N N 0.687853448 86.58910691 0.124857081 41.8 DM Amelogenesis imperfecta, type IIA4, 614832 (3) C4orf27 4 169729465 169757953 N . N N 0.100692319 57.27267465 0.000423307 67.6 . . C4orf29 4 127965306 128039711 N . N N -0.013766433 48.44591075 7.67E-07 83 . . C4orf3 4 119296419 119304445 N . N N . . 0.868030874 19.1 . . C4orf32 4 112145397 112195256 N . N N 0.227138911 66.07628639 0.285815912 36.1 . . C4orf33 4 129093317 129116640 N . N N 0.535874184 81.906581 0.000824304 65.4 . . C4orf36 4 86876205 86936202 N . N N 0.556472142 82.66481449 0.001484865 63.1 . . C4orf45 4 158893134 159038760 N Viable N Y 0.89331644 91.01695896 1.28E-05 77.4 . . C4orf46 4 158666679 158672255 N . N N 0.274070774 68.90085084 0.259003018 36.8 . . C4orf47 4 185426249 185449826 N . N N . . . . . . C4orf48 4 2041993 2043970 N . N N . . . . . . C4orf50 4 5897591 5989818 N . N N . . 6.34E-10 91.5 . . C4orf51 4 145680204 145771032 N . N N 0.272306077 68.81981826 0.01518088 53.1 . . C5 9 120952335 121050276 N . N Y -0.982899275 8.184291254 5.61E-11 93.3 DM C5 deficiency, 609536 (3); [Eculizumab, poor response to], 615749 (3) C5AR1 19 47290023 47322066 N . N Y -0.104607368 41.83596689 0.000416366 67.6 . . C5AR2 19 47332147 47347327 N . N Y 0.599873048 84.11761301 0.023140977 50.9 . . C5orf15 5 133955502 133968787 N . N N 0.9252426 91.60733924 0.015999938 52.8 . . C5orf22 5 31532266 31555058 N . N N -0.281960735 30.55507322 0.169565363 39.7 . . C5orf24 5 134845680 134859737 N . N N -0.170525669 37.3618105 0.640813736 26.3 . . C5orf28 5 43444252 43483893 N . N N -0.258648061 31.95577936 1.49E-05 77.1 . . C5orf34 5 43486701 43515145 N . N N -0.211411415 34.85558835 9.91E-11 92.9 . . C5orf38 5 2752131 2755397 N . N N 0.078032613 55.54205012 0.162071502 40.1 . . C5orf42 5 37106228 37249428 N . N N 0.315861112 71.47074145 6.32E-19 98.4 DM Joubert syndrome 17, 614615 (3); Orofaciodigital syndrome VI, 277170 (3) C5orf45 5 179835133 179862173 N . N Y 0.70396241 86.97690571 3.29E-06 80.4 . . C5orf46 5 147880726 147906538 N . N N 0.160566904 61.79892342 0.299424892 35.7 . . C5orf47 5 173973779 174006140 N . N N . . . . . . C5orf49 5 7830378 7851490 N . N N 0.814457585 89.41367135 0.346800141 34.3 . . C5orf51 5 41904188 41921636 N . N N 0.045300934 53.00688777 0.0038889 59.2 . . C5orf52 5 157671553 157680143 N . N Y . . . . . . C5orf56 5 132410636 132476044 N . N N . . 0.107649238 42.7 . . C5orf63 5 127042558 127073492 N . N N . . . . . . C5orf67 5 56511567 56606232 N . N N . . . . . . C6 5 41142234 41261438 N . N N 0.973756605 92.36557273 1.20E-14 96.6 DM C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3) C6orf1 6 34246380 34249470 N . N N 0.369846866 74.37633848 0.298718643 35.8 . . C6orf10 6 32288526 32371912 N . N N 1.487377846 96.90339758 1.23E-13 96 . . C6orf106 6 34587288 34696859 N . N N -0.153605457 38.49626671 0.454029671 31.3 . . C6orf118 6 165279664 165309607 N Viable N Y 0.947092883 91.96619784 1.46E-17 98 . . C6orf120 6 169702190 169704856 N . N N 0.151300234 61.07541819 0.046340118 47.4 . . C6orf132 6 42101118 42142619 N . N N . . . . . . C6orf136 6 30647039 30653210 N . N N -0.005306604 49.07680732 0.873894203 18.9 . . C6orf141 6 49550646 49561907 N . N N . . . . . . C6orf15 6 31111223 31112559 N . N N 0.541611524 82.1265266 0.001427697 63.2 DP . C6orf163 6 87344849 87365463 N . N N . . . . . . C6orf165 6 87408012 87511634 N . N N 1.38614466 96.31301731 . . . . C6orf201 6 4079209 4130951 N . N N 0.852931302 90.24136135 0.092248285 43.6 . . C6orf203 6 107028213 107051342 N . N N 0.279809186 69.29443769 0.001786923 62.3 . . C6orf222 6 36315757 36336885 N . N N 0.995144162 92.71285524 1.39E-13 96 . . C6orf223 6 44000580 44005958 N . N N 1.644835133 97.69635932 0.020490674 51.5 . . C6orf226 6 42890265 42890816 N . N N 0.580894119 83.51565665 0.494949272 30.1 . . C6orf229 6 24797321 24798889 N . N N . . . . . . C6orf25 6 31718594 31726714 N Viable N Y 0.472169912 79.41193494 0.004037692 59 . . C6orf47 6 31658298 31660772 N . N N 0.577215218 83.32465127 0.169847833 39.7 . . C6orf48 6 31834608 31839766 N . N N 0.100541925 57.24952249 5.82E-05 73.5 . . C6orf49 6 41783474 41787129 N . N N . . . . . . C6orf52 6 10671418 10694797 N . N N . . . . . . C6orf58 6 127519455 127591817 N . N N 0.224567453 65.92000926 1.61E-10 92.6 . . C6orf62 6 24704861 24720836 N . N N -0.139556392 39.44550559 0.946557424 15.1 . . C6orf89 6 36871870 36928964 N . N N -0.222893607 34.16102333 8.22E-05 72.5 . . C7 5 40909252 40982939 N . N N 0.132116298 59.54158708 1.26E-11 94.1 DM C7 deficiency, 610102 (3) C7orf25 7 42908726 42912305 N . N N -0.512795604 19.70249465 0.352368933 34.1 . . C7orf26 7 6590017 6608726 N . N N -0.717142473 13.46877351 0.82656656 20.8 . . C7orf31 7 25134697 25180356 N . N N 1.539103335 97.16385947 7.44E-08 86.5 . . C7orf33 7 148590565 148615860 N . N N 0.414865996 76.60473462 0.000634926 66.3 . . C7orf34 7 142939343 142940868 N Viable N Y 0.929879279 91.71731203 0.000149478 70.6 . . C7orf43 7 100154420 100158715 N . N N -0.593415811 16.91265845 0.300413007 35.7 DM? . C7orf49 7 135092363 135170795 N . N N 0.315412023 71.43022515 0.335421676 34.7 . . C7orf50 7 996986 1138260 N . N N 0.60627228 84.34334665 0.001396208 63.4 . . C7orf55-LUC7L2 7 139340359 139423457 N . N N -0.321389901 28.22828037 0.995965818 8 . . C7orf57 7 48035511 48061304 N . N N 1.002191365 92.79388783 4.29E-05 74.3 . . C7orf60 7 112819147 112939916 N . N N -0.455642657 22.04665162 0.99081084 9.8 . . C7orf61 7 100456615 100464271 N . N N -0.10763024 41.63338543 0.012081249 54.2 . . C7orf62 7 88794106 88795721 N . N N 0.326740798 72.14794235 0.023507222 50.8 . . C7orf72 7 50096036 50159830 N . N N . . . . . . C7orf73 7 135662496 135693418 N . N N . . . . . . C7orf77 7 124777292 124790689 N . N N . . . . . . C8A 1 56854806 56918221 N Viable N Y 0.814902524 89.44261156 5.36E-11 93.3 DM C8 deficiency, type I, 613790 (3) C8B 1 56929210 56966140 N Viable N Y 0.821448548 89.56416044 1.49E-09 90.8 DM C8 deficiency, type II, 613789 (3) C8G 9 136945246 136946974 N . N N 0.956213162 92.11668692 1.63E-09 90.7 . . C8orf22 8 49054311 49076090 N . N N 0.403538004 75.98541413 0.375401959 33.5 . . C8orf33 8 145052378 145056030 N . N N -0.080336605 43.59553163 6.35E-05 73.2 . . C8orf34 8 68330722 68819022 N . N N -0.266954701 31.4637958 9.85E-06 78.1 . . C8orf37 8 95244919 95269201 N . N N 0.202865163 64.54245529 0.00218443 61.6 DM Retinitis pigmentosa 64, 614500 (3); Cone-rod dystrophy 16, 614500 (3) C8orf4 8 40153455 40155308 N . N N 0.063983137 54.4886265 0.0652715 45.5 . . C8orf44 8 66667615 66685564 N . N N 0.390443887 75.38924582 0.016940286 52.5 . . C8orf44-SGK3 8 66667596 66860472 N . N N . . 0.136791141 41.3 . . C8orf46 8 66460003 66518524 N Viable N Y 0.170939673 62.57452104 0.639231508 26.3 . . C8orf48 8 13566843 13568287 N . N N . . . . . . C8orf58 8 22599601 22604150 N Viable N Y 0.696459078 86.83220467 7.26E-07 83.1 . . C8orf59 8 85214076 85220421 N . N N 0.274070774 68.90085084 0.042725949 47.9 . . C8orf74 8 10672637 10700593 N . N N 1.015431742 92.94437692 1.01E-11 94.3 . . C8orf76 8 123219957 123241398 N . N N 0.080096755 55.71569138 1.72E-05 76.7 . . C8orf82 8 144525733 144529132 N . N N . . 0.006667633 56.8 . . C8orf86 8 38510834 38528662 N . N N 0.44679135 78.19644614 6.35E-05 73.2 . . C8orf88 8 90958637 90985257 N . N N . . . . . . C8orf89 8 73241329 73259502 N . N N . . . . . . C9 5 39284262 39424868 N Viable N Y 1.062518565 93.53475719 6.82E-17 97.8 DM C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3) C9orf116 9 135495181 135501734 N . N N 0.133424212 59.69786421 0.010032602 54.9 . . C9orf117 9 127706989 127716002 N . N N 0.599873048 84.11761301 6.01E-06 79.2 . . C9orf129 9 93318199 93346414 N . N N 0.718823127 87.39364473 0.375838564 33.5 . . C9orf131 9 35041095 35045991 N . N N 0.590122987 83.839787 3.48E-13 95.7 . . C9orf135 9 69820793 69906232 N . N N 0.259212925 68.00370435 1.84E-05 76.5 . . C9orf142 9 136992418 136993984 N . N N -0.033556726 47.03941657 0.569785721 28.2 . . C9orf152 9 110190048 110208189 N . N N -0.028772452 47.38091104 0.004747681 58.3 . . C9orf153 9 86220265 86259657 N . N N 0.129597795 59.37952191 0.233307325 37.6 . . C9orf156 9 97904489 97922570 N . N N -0.084968981 43.20194478 4.08E-05 74.5 . . C9orf16 9 128160260 128163928 N . N N 0.151150685 61.04647798 0.01649363 52.7 . . C9orf171 9 132410043 132573317 N . N N 0.819382688 89.51785611 5.91E-07 83.5 . . C9orf172 9 136844415 136848801 N . N N . . . . . . C9orf173 9 137251261 137253483 N . N N 0.563164925 82.83845575 3.94E-11 93.5 . . C9orf24 9 34379019 34397832 N . N N 0.602593883 84.18706951 1.69E-05 76.7 . . C9orf3 9 94726701 95087218 N . N N -0.277025306 30.8155351 5.20E-12 94.6 . . C9orf40 9 74946581 74952886 N . N N 0.099585278 57.16270186 0.2639862 36.7 . . C9orf43 9 113410054 113429684 N Viable N Y 0.427300457 77.23563119 3.00E-08 87.6 . . C9orf47 9 88990863 88996140 N . N N 0.556472142 82.66481449 0.08509201 44.1 . . C9orf50 9 129612225 129620776 N . N N 0.838067604 89.96932338 7.28E-10 91.3 . . C9orf57 9 72051376 72072721 N . N N . . . . . . C9orf64 9 83938311 83956986 N . N N 0.071637002 55.02112635 0.001138203 64.2 . . C9orf66 9 212824 215741 N . N N 1.026614462 93.11223013 0.000775174 65.6 . . C9orf69 9 136114581 136118863 N . N N 0.549924771 82.42171673 0.496755436 30 . . C9orf72 9 27546545 27573866 N Viable N Y -0.538022286 18.68379927 0.000715132 65.9 DM Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3) C9orf78 9 129827290 129835863 N . N N -0.402163571 24.28662384 0.117679602 42.3 . . C9orf84 9 111686173 111795008 N . N N 0.608004798 84.38965098 4.97E-16 97.5 . . C9orf85 9 71911510 71986054 N . N N 0.148430386 60.90756497 0.006921051 56.6 . . C9orf89 9 93096218 93113283 N . N N 0.324827936 72.00902935 5.83E-05 73.5 . . C9orf9 9 132878027 132890201 N . N N 0.249796776 67.44226428 0.212814053 38.3 . . C9orf91 9 114611206 114646422 N . N N 0.253623009 67.679574 0.000442176 67.4 . . C9orf92 9 16203935 16276313 N . N N . . . . . . CA1 8 85327608 85379014 N . N N 0.660707924 85.93505817 3.77E-05 74.6 DM . CA10 17 51630313 52160017 N . N N -0.294249011 29.74474735 0.973117502 12.7 . . CA11 19 48637942 48646312 N . N N -0.221132832 34.27099612 0.976097038 12.2 . . CA12 15 63321378 63382161 N . N Y 0.135487969 59.87729351 9.91E-09 88.9 DM Hyperchlorhidrosis, isolated, 143860 (3) CA13 8 85220587 85284073 N . N N -0.103802501 41.88805927 0.000339444 68.3 . . CA14 1 150257159 150265078 N . N Y 0.208604733 64.97655843 1.43E-09 90.8 . . CA2 8 85463852 85481493 N . N Y -0.303666373 29.26433987 0.100369923 43.1 DM Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) CA3 8 85373436 85449040 N . N Y -0.158237463 38.14319616 4.69E-05 74 . . CA5A 16 87881546 87936529 N . N Y 0.40846756 76.27481623 0.010723138 54.7 . Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3) CA5B X 15688830 15788409 N . N N 0.037797903 52.3759912 0.00331243 59.9 . . CA6 1 8945867 8975092 N . N Y 0.09510276 56.80384326 0.008023621 55.9 DP . CA7 16 66844379 66854153 N Viable N Y -0.449096955 22.33605371 0.775375974 22.4 . . CA8 8 60187347 60281412 N . N N -0.031643 47.17832957 0.783927467 22.2 DM Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3) CA9 9 35673856 35681159 N . N Y -0.223698301 34.10893095 4.39E-07 83.9 . . CAAP1 9 26840685 26892804 N . N N -0.057827611 45.27406378 0.708931875 24.4 . . CAB39 2 230712845 230821075 N . N N -0.304623579 29.21803554 0.062179596 45.8 . . CAB39L 13 49308650 49444126 N Viable N Y -0.081293491 43.49713492 0.016420554 52.7 . . CABLES1 18 23134564 23260467 N . N Y 0.271498993 68.77351392 0.445044394 31.6 . . CABLES2 20 62388632 62407285 N . N N 0.18146271 63.30960236 0.000167847 70.3 . . CABP1 12 120640552 120667324 N Viable N Y -0.10204113 42.00382011 0.994401234 8.7 . . CABP2 11 67518912 67523428 N . N N 0.021835061 51.22417086 0.021209537 51.3 DM Deafness, autosomal recessive 93, 614899 (3) CABP4 11 67452406 67460313 N Viable N Y 0.611053519 84.5169879 1.84E-05 76.5 DM Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3) CABP5 19 48029953 48044053 N . N N 0.57434681 83.2320426 0.004220803 58.9 . . CABP7 22 29720084 29731839 N . N N -0.349641992 26.83336227 0.899633392 17.8 . . CABS1 4 70334966 70337116 N . N N 0.294008138 70.13370377 0.054137713 46.5 . . CABYR 18 24138956 24161603 N . N N -0.245402639 32.7487411 0.000210501 69.7 . . CACFD1 9 133459965 133470848 N . N Y . . 0.005746769 57.5 . . CACHD1 1 64470792 64693058 N . N N -0.393913783 24.68599873 0.838036969 20.3 DM? . CACNA1B 9 137877789 138124624 Y Viable N Y -2.640989538 0.839266076 0.982603443 11.3 DM? ?Dystonia 23, 614860 (3) CACNA1D 3 53494656 53813733 N . N Y -3.180841713 0.526711813 1 0.3 DM Sinoatrial node dysfunction and deafness, 614896 (3); Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3) CACNA1E 1 181413102 181808084 N . N Y -1.816946992 2.153151589 1 0.2 DM? . CACNA1F X 49205063 49233371 N . N Y -0.258044198 32.0020837 0.873703604 18.9 DM Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3); Cone-rod dystropy, X-linked, 3, 300476 (3); Aland Island eye disease, 300600 (3) CACNA1G 17 50561068 50627474 N . N Y -2.660683447 0.833478034 0.999996517 2.1 DM . CACNA1H 16 1153241 1221771 N . N Y -0.723239071 13.32407247 0.755916976 23 DM {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) CACNA1I 22 39570753 39689737 N Viable N Y -1.263548734 5.018232332 0.999998894 1.7 . . CACNA2D1 7 81946444 82443798 N . N Y -0.72449582 13.27776813 0.999995804 2.2 DM . CACNA2D3 3 54122547 55074557 N Viable N Y -1.36982546 4.150026046 0.998032255 6.9 DM? . CACNA2D4 12 1791957 1918836 N . N N -0.478363114 21.06847254 4.57E-22 99 DM Retinal cone dystrophy 4, 610478 (3) CACNB3 12 48813794 48828941 N . N Y -0.462034049 21.80355386 0.049583653 47.1 . . CACNB4 2 151832776 152099079 N . N Y -0.731345989 13.12727904 0.011363582 54.4 DM {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3); {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3); Episodic ataxia, type 5, 613855 (3) CACNG1 17 67044590 67056797 N . N Y -0.103802501 41.88805927 4.78E-07 83.8 . . CACNG2 22 36563921 36703558 N . N Y -0.000674037 49.38936158 0.958056003 14.1 DM Mental retardation, autosomal dominant 10, 614256 (3) CACNG3 16 24255553 24362801 N . N Y -0.6076209 16.52485964 0.987801232 10.4 . . CACNG4 17 66964910 67033398 N . N Y 0.160716564 61.81628755 0.215774473 38.2 . . CACNG5 17 66835117 66885486 N . N N 0.162629888 61.97256468 0.053560444 46.6 . . CACNG6 19 53992288 54012669 N . N N 0.475848013 79.55084795 0.180522903 39.3 . . CACNG7 19 53909335 53943941 N . N Y -0.234224724 33.42015396 0.712700867 24.3 . . CACNG8 19 53963040 53990215 N . N Y 0.049933723 53.40047462 . . . . CACTIN 19 3610641 3626815 N . N N -0.94783526 8.745731319 0.999345096 5.5 . . CACUL1 10 118674167 118755249 N . N N -0.459316521 21.9193147 0.846686967 20 . . CACYBP 1 174999163 175011715 N . N Y -0.026053671 47.51982404 0.943386849 15.4 . . CAD 2 27217390 27243943 N . N N -5.109961657 0.086820629 0.999999702 1.4 . ?Congenital disorder of glycosylation, type Iz, 616457 (3) CADM1 11 115169218 115504957 N . N Y -0.443353128 22.55021126 0.994386404 8.7 DM . CADM2 3 84958981 86074429 N . N N -0.623428585 16.06181629 0.98466891 10.9 . . CADM3 1 159171609 159203313 N . N Y -0.79887591 11.61081206 0.975630651 12.4 . . CADM4 19 43622368 43639839 N . N N -0.301752054 29.35694854 0.979491545 11.8 . . CADPS2 7 122318425 122886759 N . N Y -1.496448015 3.380216473 0.997778954 7.1 . . CAGE1 6 7326656 7389743 N . N N 0.539847451 82.05707009 2.62E-06 80.7 . . CALB1 8 90058608 90095475 N . N Y -0.411581382 23.84673265 0.898924669 17.8 . . CALB2 16 71358713 71390438 N . N Y -0.338310159 27.33692192 0.001238901 63.8 . . CALCA 11 14966668 14972354 N . N Y 0.416778578 76.67419112 0.001395557 63.4 DM . CALCB 11 14904997 15082342 N Viable N Y -0.147059443 38.92458181 0.057876195 46.2 . . CALCOCO1 12 53708517 53727745 N . N N -0.172939654 37.1823812 0.171891881 39.7 . . CALCOCO2 17 48830988 48866522 N . N N 0.140120824 60.21878798 0.031762453 49.4 . . CALHM1 10 103453387 103458888 N . N Y 0.959229114 92.18035539 9.36E-05 72.1 DFP . CALHM2 10 103446786 103452402 N . N N 0.014483413 50.59906234 5.29E-07 83.6 . . CALHM3 10 103472804 103479240 N . N N . . . . . . CALM1 14 90396502 90408261 N . N N 0.075162561 55.29316432 0.894820173 18 DM Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3); Long QT syndrome 14, 616247 (3) CALM2 2 47160082 47176601 N . N N 0.075162561 55.29316432 0.856387219 19.7 DM Long QT syndrome 15, 616249 (3) CALM3 19 46601074 46610793 N . N N 0.038603643 52.45123575 0.580172432 28 DFP . CALML3 10 5524009 5526771 N . N N 0.073399639 55.17740348 0.03792497 48.6 . . CALML4 15 68190705 68206110 N . N N 0.182269088 63.36169474 0.010209058 54.8 . . CALML5 10 5498697 5499555 N . N N 0.42987242 77.39769636 0.536579599 29 . . CALML6 1 1914827 1917296 N . N N 0.44583509 78.14435377 0.000127437 71.2 . . CALN1 7 71779491 72447151 N . N N -0.38156897 25.32847138 0.15365029 40.4 . . CALR3 19 16479057 16496192 N . N Y -0.13094377 40.00115761 8.79E-08 86.3 DM ?Cardiomyopathy, hypertrophic, 19, 613875 (3) CALU 7 128739292 128771807 N . N N -0.408709366 23.99722174 0.447140101 31.5 . . CALY 10 133324072 133336935 N . N Y . . 0.706613402 24.5 . . CAMK1 3 9757342 9769992 N Viable N Y -0.266954701 31.4637958 0.004746546 58.4 . . CAMK1D 10 12349482 12835545 N . N N -0.450856222 22.22608092 0.993807052 8.9 . . CAMK1G 1 209583717 209613938 N . N Y -0.044583575 46.25803091 0.101614387 43 . . CAMK2A 5 150219491 150290291 N . N Y -0.545680331 18.36545697 0.998004221 6.9 . . CAMK2B 7 44217150 44334577 N . N Y -0.350445024 26.76390577 0.468620194 30.9 . . CAMK2D 4 113451032 113761927 N . N Y -0.687283786 14.28488742 0.016661669 52.6 DM? . CAMK2G 10 73812501 73874591 N . N Y -0.556857198 18.01238641 0.994506146 8.6 DM? . CAMK2N1 1 20482391 20486220 N . N N 0.090168851 56.43919662 0.138563182 41.2 . . CAMK2N2 3 184259213 184261463 N . N N 0.015137522 50.6627308 0.320487801 35.1 . . CAMK4 5 111223653 111494886 N . N Y -0.282917726 30.50876888 0.01582967 52.9 DM? . CAMKK1 17 3860315 3894891 N . N Y -0.914144691 9.312959426 0.06323909 45.7 DP . CAMKK2 12 121237691 121298308 N . N Y -0.310864193 28.90548128 0.503475917 29.8 DP . CAMKMT 2 44361950 44772592 N Viable N Y -0.460273767 21.90195057 5.15E-13 95.5 . . CAMKV 3 49857988 49870222 N . N N 0.222654188 65.80424842 0.996846171 7.6 . . CAMP 3 48223347 48225491 N . N Y 0.498357775 80.40169011 0.089655702 43.8 DP . CAMSAP1 9 135808487 135907228 N . N N -1.581505322 2.905597037 0.753664482 23.1 . . CAMSAP2 1 200739558 200860704 N . N N -0.869645063 10.1927418 0.999973882 3 . . CAMSAP3 19 7595902 7618304 N . N N -1.243208268 5.168721422 0.999943969 3.3 . . CAMTA1 1 6785324 7769706 N . N N -1.54017246 3.142906755 0.999999955 1 DM Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3) CAMTA2 17 4967992 4987652 N . N Y -0.614382069 16.35121838 0.999991614 2.5 DM? . CAND1 12 67269281 67319951 N . N N -1.534108474 3.183423048 0.999927001 3.5 . . CAND2 3 12796472 12871916 N . N Y 0.783459827 88.85801933 4.53E-09 89.7 . . CAP1 1 40040233 40072649 N . N N 0.432890148 77.54818545 0.585940926 27.8 . {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3) CAPG 2 85394748 85418432 N . N Y 0.286505086 69.72275279 5.33E-09 89.5 . . CAPN1 11 65180566 65212006 N . N Y 0.016548514 50.77849164 5.00E-05 73.9 . . CAPN10 2 240586716 240617705 N . N Y -0.442093457 22.63703189 2.38E-08 88 DM? {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3) CAPN11 6 44158811 44184402 N . N N 0.716401928 87.31840019 2.97E-10 92.2 . . CAPN12 19 38730187 38769904 N Viable N Y 0.835655068 89.89986688 7.48E-20 98.6 . . CAPN13 2 30722771 30820542 N . N N 1.467890428 96.82236499 1.83E-09 90.6 DP . CAPN14 2 31173056 31233858 N . N N . . . . . . CAPN15 16 527717 554636 N . N N 0.051496629 53.46414308 0.965209511 13.5 . . CAPN3 15 42359500 42412318 N . N Y -0.691469023 14.20385484 9.74E-09 88.9 DM Muscular dystrophy, limb-girdle, type 2A, 253600 (3) CAPN6 X 111245103 111270523 N . N Y -0.373911225 25.72784627 0.984532251 11 . . CAPN8 1 223538007 223665734 N Viable N Y . . 0.015180936 53.1 . . CAPN9 1 230747384 230802003 N . N Y 1.374169102 96.24934885 1.73E-11 94 . . CAPNS2 16 55566672 55567687 N . N N 0.218827885 65.61903108 0.131736738 41.5 . . CAPRIN2 12 30709552 30754951 N . N N -1.212099669 5.458123517 0.012089127 54.2 . . CAPS 19 5911707 5916208 N . N N 0.731106858 87.60780228 5.18E-07 83.7 . . CAPS2 12 75275979 75390928 N . N N 0.626060077 84.945303 2.65E-09 90.3 . . CAPSL 5 35904295 35938779 N . N N 0.199188423 64.32250969 0.000440615 67.4 . . CAPZA1 1 112619173 112671619 N . N N 0.364256447 74.10430052 0.983027525 11.3 . . CAPZA2 7 116811070 116922049 N . N N 0.261933591 68.13682931 0.986605821 10.7 . . CAPZA3 12 18738101 18739187 N . N N 0.389635172 75.36030561 0.000212652 69.6 . . CARD11 7 2906141 3043945 N . N Y -0.746720095 12.71632807 0.999939282 3.4 DM B-cell expansion with NFKB and T-cell anergy, 616452 (3); Immunodeficiency 11, 615206 (3) CARD14 17 80169992 80209331 N . N N 1.481316925 96.88024541 3.15E-14 96.4 DM Psoriasis 2, 602723 (3); Pityriasis rubra pilaris, 173200 (3) CARD16 11 105041326 105101431 N . N N 0.848294696 90.1661168 0.040164332 48.3 . . CARD17 11 105092469 105101431 N . N N 0.756340519 88.25027493 0.000301792 68.6 . . CARD18 11 105137721 105139726 N . N N 0.501080921 80.47693465 0.048753747 47.2 . . CARD6 5 40841184 40860175 N . N N 1.636990561 97.6789952 1.46E-16 97.7 . . CARD8 19 48180770 48255946 N . N N 1.26879824 95.54899577 0.016289375 52.7 DFP . CARD9 9 136361903 136373681 N . N Y 0.849547686 90.20084505 2.29E-11 93.8 DM Candidiasis, familial, 2, autosomal recessive, 212050 (3) CARF 2 202912214 202987063 N Viable N Y -0.380305159 25.44423222 0.004541037 58.6 . . CARHSP1 16 8852942 8869012 N . N N 1.125120265 94.25826243 . . . . CARKD 13 110615460 110639993 N . N N 0.516381288 81.11361926 0.00650288 56.9 . . CARNMT1 9 74981020 75028423 N . N N . . . . . . CARNS1 11 67414968 67425607 N . N N . . 0.022129 51.2 . . CARS 11 3000922 3057613 N . N N 0.056128986 53.78827343 2.96E-06 80.6 . . CARS2 13 110641412 110713603 N . N N 0.793195884 89.0606008 0.040465118 48.2 . . CARTPT 5 71719163 71721048 N . N Y 0.123051266 58.96278289 0.420347163 32.2 DM {?Obesity, susceptibility to}, 601665 (3) CASC1 12 25108420 25195162 N . N N -0.101585715 42.03276032 8.06E-12 94.3 . . CASC10 10 21492658 21497262 N . N N 0.510496156 80.89367367 0.020054862 51.7 . . CASC4 15 44288729 44415758 N Viable N Y 0.233027146 66.41199282 0.00096773 64.9 . . CASD1 7 94509219 94557019 N . N N -0.306231452 29.11385078 0.036794338 48.7 . . CASKIN2 17 75500261 75515583 N Viable N Y 0.208413927 64.92446605 0.999986555 2.7 . . CASP1 11 105025443 105035250 N . N N 0.454442874 78.52057649 0.136798331 41.3 DM? . CASP10 2 201182881 201229406 N . N N 0.090621427 56.49707704 8.54E-12 94.3 DM Autoimmune lymphoproliferative syndrome, type II, 603909 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3); Gastric cancer, somatic, 613659 (3) CASP14 19 15049384 15058293 N . N Y 0.746113675 88.00138913 0.001233881 63.9 . . CASP16P 16 3144219 3149963 N . N N . . . . . . CASP2 7 143288215 143307696 N . N Y -0.423561627 23.40105342 0.423101054 32.2 DM . CASP4 11 104942866 104969436 N Viable N Y 0.279958701 69.3233779 8.21E-07 82.9 . . CASP5 11 104994235 105023168 N . N N 0.737802049 87.79301962 8.11E-09 89.2 DP . CASP6 4 109688622 109703583 N . N Y 0.266716005 68.46095966 0.000855158 65.3 . . CASP7 10 113679162 113730907 N . N Y 0.361535788 73.98853968 0.000373926 68 . . CASQ1 1 160190556 160201886 N Viable N Y 0.598916451 84.09446084 1.04E-09 91.1 . Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3) CASS4 20 56412112 56460387 N . N N 0.303729111 70.73566013 0.296175209 35.8 . . CAST 5 96525267 96779595 N Viable N Y 0.628277759 84.99739538 1.56E-06 81.8 FP Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3) CAT 11 34438925 34472062 N . N Y -0.381261924 25.37477571 1.48E-06 81.9 DM . CATIP 2 218356856 218368099 N Viable N Y . . . . . . CATSPER1 11 66016752 66026517 N . N Y 0.404140759 76.01435434 1.14E-08 88.8 DM Spermatogenic failure 7, 612997 (3) CATSPER2 15 43628503 43668118 N . N Y 0.720076471 87.43994907 3.04E-05 75.2 DM . CATSPER3 5 134967906 135011707 N . N Y 0.856899996 90.31660589 0.000487202 67.1 DM? . CATSPER4 1 26190561 26202968 N . N Y 1.141231441 94.44926781 3.16E-05 75.1 DM? . CATSPERB 14 91580696 91780707 N . N N -1.375419813 4.109509753 4.26E-13 95.6 . . CATSPERD 19 5720677 5778734 N . N Y 1.325476072 95.95415871 1.07E-08 88.8 . . CATSPERG 19 38335775 38370943 N . N N -0.458865063 21.93089078 1.31E-11 94.1 FTV . CAV1 7 116524785 116561184 N . N Y 0.261933591 68.13682931 0.018707972 52 DM ?Lipodystrophy, congenital generalized, type 3, 612526 (3); Pulmonary hypertension, primary, 3, 615343 (3); ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3) CAV2 7 116287380 116508541 N . N Y 0.23846774 66.7534873 0.004116385 59 . . CAV3 3 8733800 8841808 N . N Y 0.291946181 70.03530706 0.339836386 34.5 DM Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling muscle disease, 606072 (3); Creatine phosphokinase, elevated serum, 123320 (3); Myopathy, distal, Tateyama type, 614321 (3); Cardiomyopathy, familial hypertrophic, 192600 (3); Long QT syndrome 9, 611818 (3) CBARP 19 1228287 1238027 N . N N . . . . . . CBFA2T3 16 88874858 88977204 N . N Y 0.797981156 89.14163339 0.454440082 31.3 . . CBLB 3 105655461 105869552 N . N Y -1.180308971 5.805406031 0.913125167 17.1 DM . CBLC 19 44777869 44800634 N . N Y 0.200295721 64.41511837 0.00018299 70.1 . . CBLL1 7 107743697 107761667 N . N N -1.16846588 5.909590785 0.997784848 7.1 . . CBLN1 16 49277917 49281831 N . N Y 0.06302642 54.36707762 0.814123267 21.1 . . CBLN2 18 72536680 72638521 N . N N -0.155519548 38.35156567 0.318302604 35.2 . . CBLN3 14 24426532 24430954 N Viable N Y 0.126877769 59.25218499 0.000188311 70 . . CBLN4 20 55997440 56005472 N . N Y -0.277483031 30.77501881 0.348291543 34.2 . . CBR1 21 36069941 36073166 N . N N 0.413101046 76.51212595 0.006462202 56.9 FP . CBR3 21 36134912 36146566 N . N N 0.60818461 84.40701511 8.03E-06 78.6 FP . CBR4 4 168863770 169010275 N . N N -0.166697481 37.63384847 8.22E-06 78.6 . . CBSL 21 6444869 6468040 N . N N . . . . . . CBWD1 9 121038 179147 N . N N . . 0.642141452 26.3 . . CBWD2 2 113437691 113496189 N . N N 0.399859596 75.829137 0.967070796 13.3 . . CBWD3 9 68232003 68300015 N . N N . . 0.358916975 33.9 . . CBWD5 9 65668805 65734041 N . N N . . 0.534115236 29 . . CBWD7 9 41131306 41199261 N . N N . . . . . . CBX6 22 38861450 38872314 N . N Y -0.065330609 44.75314001 0.610925096 27.2 . . CBX7 22 39120167 39152674 N . N Y -0.093581117 42.57683626 0.83745538 20.4 . . CBX8 17 79792132 79801683 N . N Y 0.066047521 54.62175146 0.994625905 8.6 . . CBY3 5 179678583 179680974 N . N N . . . . . . CC2D1B 1 52345723 52366193 N . N N 0.850824075 90.21242114 4.76E-10 91.8 . . CC2D2B 10 96000091 96032684 N . N N 0.493723196 80.22226081 2.52E-05 75.6 . . CCAR1 10 68721012 68792377 N . N N -1.020002522 7.628639231 0.99874622 6.2 . . CCAR2 8 22604632 22621514 N . N Y -1.337897694 4.422064016 0.960454889 13.9 . . CCBL1 9 128832942 128882494 N . N N 0.700285457 86.90166117 6.51E-08 86.6 . . CCBL2 1 88935773 88992953 N . N N 0.037949145 52.39335533 3.05E-08 87.6 . . CCDC101 16 28553915 28591790 N . N Y -0.116090248 41.04300515 0.867208408 19.2 . . CCDC102A 16 57512178 57536599 N . N N -0.043626754 46.35063958 9.22E-05 72.1 . . CCDC102B 18 68715209 69055189 N . N N 1.066193793 93.58106153 3.31E-09 90 . . CCDC103 17 44899142 44905390 N . N N -0.008177066 48.7989813 0.002185523 61.6 DM Ciliary dyskinesia, primary, 17, 614679 (3) CCDC105 19 15010744 15023269 N . N N 0.809009944 89.29791052 2.34E-10 92.3 . . CCDC106 19 55641062 55653161 N . N N 0.009699407 50.29229612 0.010803208 54.6 . . CCDC107 9 35658290 35661511 N . N N 0.539698884 82.04549401 1.70E-07 85.4 . . CCDC108 2 219002846 219041527 N . N N 1.660729856 97.76581582 2.33E-18 98.3 . . CCDC109B 4 109560205 109688726 N Viable N Y 0.667255193 86.13763964 0.006149257 57.1 DM? . CCDC110 4 185445182 185471759 N . N N 1.36937762 96.21462059 1.35E-08 88.6 . . CCDC112 5 115267188 115296831 N . N N -0.364494105 26.16194941 0.821147626 20.9 . . CCDC113 16 58231157 58283836 N . N N 0.40846756 76.27481623 3.95E-13 95.6 . . CCDC114 19 48296457 48321894 N . N N 0.812030693 89.37315506 0.002706897 60.8 DM Ciliary dyskinesia, primary, 20, 615067 (3) CCDC115 2 130338241 130342349 N . N N -0.10763024 41.63338543 1.51E-05 77 . . CCDC116 22 21632716 21637327 N Viable N Y 1.837536138 98.26937547 3.98E-05 74.5 . . CCDC117 22 28772674 28789301 N . N N -0.106673287 41.69126584 0.619564485 26.9 . . CCDC12 3 46921726 46982010 N . N N -0.070115062 44.4058575 0.77413072 22.5 . . CCDC120 X 49053572 49069857 N Viable N Y 0.549114755 82.41014065 0.691311336 24.8 . . CCDC121 2 27625639 27629012 N . N N -0.066287483 44.66631938 9.73E-05 72 . . CCDC122 13 43823909 43879727 N . N Y -0.002587674 49.23887249 8.65E-08 86.3 . . CCDC124 19 17933016 17943991 N . N N 0.276939876 69.10922035 0.316957011 35.2 . . CCDC125 5 69280175 69332809 N . N N 0.198382189 64.28778144 8.05E-06 78.6 . . CCDC126 7 23597379 23644708 N . N N -0.148973548 38.82039706 0.351142327 34.1 . . CCDC127 5 196871 218215 N Viable N Y 0.321150679 71.84696417 0.020957492 51.4 . . CCDC129 7 31514071 31658720 N . N N 1.874441992 98.34462002 2.61E-17 97.9 . . CCDC13 3 42692663 42773253 N . N N 0.680800377 86.4501939 1.16E-07 86 . . CCDC130 19 13731760 13763296 N . N N 0.290331873 69.95427447 0.025049031 50.5 . . CCDC136 7 128790757 128822132 N . N N 0.341244376 72.95248018 4.89E-08 87 . . CCDC138 2 108786757 108885477 N . N N -0.515361182 19.6272501 1.08E-05 77.8 . . CCDC14 3 123897305 123961408 N . N N -0.251796722 32.34936621 3.41E-07 84.4 DM? . CCDC140 2 222298147 222305217 N . N N 0.118418051 58.60971233 0.063085752 45.7 . . CCDC141 2 178829757 179050086 N . N N . . 1.43E-09 90.8 . . CCDC142 2 74471986 74483408 N . N N 0.37397413 74.63680037 0.000167048 70.3 . . CCDC144A 17 16689537 16777881 N . N N . . . . . . CCDC144NL 17 20836447 20896140 N . N N 1.73599018 98.01470163 8.14E-06 78.6 FTV . CCDC146 7 77122434 77329533 N . N N -0.39692684 24.5586618 3.02E-18 98.2 . . CCDC148 2 158171081 158456753 N . N N 0.949007258 92.00092609 7.95E-19 98.4 DM? . CCDC149 4 24806117 24980204 N . N N -0.083207293 43.33506975 0.002049284 61.8 . . CCDC15 11 124954121 125041489 N . N N 0.919950548 91.49736644 3.21E-16 97.5 . . CCDC150 2 196639554 196763490 N . N N 1.000894538 92.77073566 3.80E-24 99.3 . . CCDC151 19 11420604 11435782 N . N Y 0.097167572 56.91381606 8.77E-07 82.7 . Ciliary dyskinesia, primary, 30, 616037 (3) CCDC152 5 42756801 42802360 N . N N . . . . . . CCDC153 11 119189638 119196769 N . N N 0.77693964 88.71331828 0.154452993 40.4 . . CCDC154 16 1434383 1444556 N . N N . . 0.311572586 35.4 . . CCDC155 19 49388218 49417994 N . N N 0.430976902 77.46136482 7.22E-07 83.1 . . CCDC157 22 30356635 30378658 N . N N 0.941661328 91.87937721 2.42E-15 97.1 . . CCDC158 4 76312997 76421868 N . N N 0.364067005 74.08693639 2.99E-13 95.7 . . CCDC159 19 11344684 11354944 N . N Y 0.186902427 63.61058054 9.21E-05 72.1 FP . CCDC160 X 134237047 134246207 N . N Y . . 0.029462881 49.7 . . CCDC166 8 143706694 143708109 N . N N . . . . . . CCDC167 6 37482920 37499922 N . N N -0.019507464 47.94813914 0.002089879 61.7 . . CCDC168 13 102729369 102759070 N . N N . . . . . . CCDC169 13 36222008 36297840 N . N N . . . . . . CCDC169-SOHLH2 13 36168794 36297842 N . N N 0.142034241 60.34033686 0.429898601 32 . . CCDC17 1 45620044 45624057 N . N N 0.771492772 88.59755745 3.59E-13 95.7 . . CCDC170 6 151494030 151621193 N . N N 2.094636594 98.72663078 1.02E-19 98.6 . . CCDC171 9 15552897 16061663 N . N N -0.537984272 18.68958731 . . . . CCDC172 10 116324428 116380029 N . N N -0.008177066 48.7989813 0.008329616 55.7 . . CCDC173 2 169645425 169694433 N . N N 1.214357007 95.18434913 1.08E-15 97.3 . . CCDC175 14 59504539 59576831 N . N N . . . . . . CCDC176 14 74019353 74082863 N . N N 0.787456004 88.92747583 0.000124143 71.2 . . CCDC177 14 69569816 69574837 N . N N . . . . . . CCDC178 18 32937402 33441101 N . N N 0.767166977 88.48758465 4.11E-29 99.6 . . CCDC179 11 22846931 22860426 N . N N . . . . . . CCDC18 1 93179919 93278730 N . N N . . . . DM? . CCDC180 9 97307304 97378524 N . N N -0.224724976 34.03947445 5.35E-22 99 . . CCDC181 1 169394870 169460669 N Viable N Y 0.076420824 55.39156103 3.80E-07 84.2 . . CCDC182 17 57744481 57745312 N . N N . . . . . . CCDC183 9 136796350 136807741 N . N N 1.133727624 94.37402327 . . . . CCDC184 12 48183584 48185926 N . N N . . . . . . CCDC185 1 223393417 223395470 N . N N . . . . . . CCDC186 10 114120862 114174220 N . N N . . . . . . CCDC22 X 49235467 49250526 N . N N 0.836155347 89.91144296 0.995198908 8.3 DM . CCDC24 1 43991359 43996528 N . N N 0.147623843 60.84968455 2.01E-08 88.1 . . CCDC25 8 27733311 27772653 N . N N -0.125507302 40.39474446 0.051834011 46.8 . . CCDC27 1 3752398 3771645 N . N N 1.436915322 96.61399549 1.61E-19 98.5 . . CCDC28A 6 138773509 138793319 N . N N 0.502182723 80.52902703 1.50E-05 77.1 . . CCDC28B 1 32200386 32205387 N . N N 0.172852824 62.72501013 9.97E-08 86.1 DFP {Bardet-Biedl syndrome 1, modifier of}, 209900 (3) CCDC3 10 12896625 13099652 N . N N -0.029729296 47.29987845 0.000821908 65.4 . . CCDC30 1 42463330 42654664 N . N N -0.137338205 39.61914684 6.07E-12 94.5 . . CCDC33 15 74236289 74336472 N Viable N Y 0.373171102 74.58470799 8.63E-09 89.1 DM? . CCDC34 11 27330827 27363868 N . N N -0.191924635 36.05950107 4.91E-07 83.8 . . CCDC36 3 49198428 49258104 N . N N -0.136532991 39.65966314 0.509348612 29.7 . . CCDC37 3 126394939 126436556 N . N N 0.518447004 81.21201597 4.73E-14 96.3 . . CCDC38 12 95867048 95942974 N . N N 0.748175766 88.07084563 1.57E-08 88.4 . . CCDC39 3 180602858 180871005 N . N Y 0.712573182 87.22000347 5.10E-05 73.8 DM Ciliary dyskinesia, primary, 14, 613807 (3) CCDC42 17 8729934 8745219 N . N N 0.710509334 87.14475893 1.69E-05 76.7 FTV . CCDC42B 12 113149858 113159276 N . N N . . . . . . CCDC43 17 44673069 44689779 N . N N -0.071071979 44.35376512 0.000257178 69.1 . . CCDC50 3 191329077 191398670 N . N N -0.051129725 45.70237889 9.33E-06 78.2 DM ?Deafness, autosomal dominant 44, 607453 (3) CCDC51 3 48432164 48440456 N . N N 0.468492577 79.26144585 1.46E-06 82 . . CCDC53 12 102012927 102062149 N . N N 0.093995484 56.69387046 0.035125929 48.9 . . CCDC54 3 107377194 107378637 N . N N 0.935614038 91.8099207 8.55E-08 86.3 . . CCDC57 17 82101460 82212830 N . N Y . . 2.64E-13 95.8 . . CCDC58 3 122359591 122383231 N . N N -0.141470476 39.31238062 0.080276122 44.4 . . CCDC59 12 82223681 82358805 N . N N 0.398094787 75.74231637 0.000680495 66 . . CCDC6 10 59788763 59906656 N . N N -0.344856099 27.00700353 0.967799856 13.2 . . CCDC60 12 119334712 119541047 N . N N 1.833705251 98.25201134 8.62E-06 78.5 . . CCDC61 19 45995461 46021318 N . N N 0.837111437 89.94617121 2.17E-05 76 . . CCDC62 12 122774327 122827528 N . N N 0.417078537 76.69734329 1.44E-12 95.1 . . CCDC63 12 110846769 110907535 N . N N 1.419033617 96.47508248 4.48E-10 91.8 . . CCDC64 12 119989869 120094494 N Viable N Y -0.593415811 16.91265845 0.549254949 28.7 . . CCDC64B 16 3027682 3036926 N . N N . . 5.73E-06 79.3 . . CCDC65 12 48904110 48931840 N . N N 0.949812072 92.00671413 9.60E-07 82.6 . Ciliary dyskinesia, primary, 27, 615504 (3) CCDC66 3 56557161 56621818 N . N N 0.764453356 88.44706836 8.99E-28 99.6 . . CCDC67 11 93329971 93438487 N . N N 0.190879187 63.84789026 2.60E-11 93.7 . . CCDC68 18 54901509 54959508 N . N N 0.171089591 62.59767321 6.41E-07 83.3 . . CCDC69 5 151181052 151224145 N Viable N Y 0.566034018 82.93685246 3.79E-08 87.3 . . CCDC7 10 32567723 32882874 N . N Y 1.434847045 96.59663136 3.52E-09 90 . . CCDC70 13 51861981 51866232 N . N N 0.578171457 83.38831973 0.053153462 46.7 . . CCDC71 3 49162535 49166321 N . N N 0.085837372 56.15558257 0.016989639 52.5 . . CCDC71L 7 106656765 106660996 N . N N . . 0.482182658 30.5 . . CCDC73 11 32602246 32794658 N . N N 0.161171425 61.8510158 1.19E-13 96 . . CCDC74A 2 131527675 131533666 N . N N 2.839738644 99.40961973 1.17E-05 77.7 . . CCDC74B 2 130139287 130145134 N . N N 1.754826223 98.07837009 1.19E-06 82.3 . . CCDC77 12 389273 442645 N . N Y -0.01265806 48.49800313 9.40E-15 96.7 . . CCDC78 16 722582 726954 N . N N 2.104860104 98.73820686 1.71E-19 98.5 DM Myopathy, centronuclear, 4, 614807 (3) CCDC79 16 66754976 66801620 N Viable N Y . . . . . . CCDC8 19 46410372 46413584 N . N N 0.682560097 86.50807432 0.167397003 39.8 DM 3-M syndrome 3, 614205 (3) CCDC80 3 112596794 112649530 N . N Y 0.296381077 70.27261677 0.005843099 57.4 . . CCDC81 11 86374736 86423109 N . N N 0.430170878 77.43821265 2.79E-09 90.2 . . CCDC82 11 96352769 96389923 N . N N 0.238767519 66.77663946 1.73E-07 85.4 . . CCDC83 11 85855101 85920021 N . N N 0.326890353 72.17109452 6.83E-07 83.2 . . CCDC84 11 118998142 119015791 N . N N 0.404641438 76.06644672 4.70E-06 79.7 . . CCDC85A 2 56184123 56386173 N . N N -0.414144703 23.73097181 0.001735205 62.4 . . CCDC85B 11 65890112 65891635 N . N N . . 0.491379558 30.2 . . CCDC85C 14 99500180 99604026 N . N N . . . . . . CCDC87 11 66590176 66593083 N . N N 0.936073992 91.81570875 3.06E-06 80.5 . . CCDC88A 2 55287842 55419921 N . N Y -2.124905547 1.412282225 0.999999956 1 . . CCDC88B 11 64340223 64357534 N . N N 1.636208397 97.67320715 0.000929045 65 . . CCDC88C 14 91271323 91417844 N Viable N Y 2.162651248 98.79608728 2.17E-06 81.2 DM Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3); ?Spinocerebellar ataxia 40, 616053 (3) CCDC89 11 85684866 85686277 N . N N 0.324977012 72.03796955 0.005821824 57.4 . . CCDC9 19 47255980 47271953 N . N N 0.743543456 87.94929675 1.57E-06 81.8 . . CCDC90B 11 83259097 83286407 N . N N 0.615687917 84.61538462 0.009063821 55.3 DM? . CCDC91 12 28133249 28581511 N . N N 0.090470018 56.47392487 3.15E-05 75.1 . . CCDC92 12 123918660 123972831 N . N N -0.038994253 46.68055797 0.368849606 33.7 . . CCDC93 2 117915478 118014133 N . N N 0.103713727 57.49262025 0.064375261 45.6 . . CCDC96 4 7040849 7042939 N . N N -0.391635495 24.88858019 2.71E-06 80.7 . . CCDC97 19 41310189 41324883 N . N N 0.153364212 61.26642357 2.84E-08 87.7 . . CCER1 12 90905622 90955176 N . N N 0.082010267 55.87196851 4.85E-07 83.8 . . CCER2 19 38908980 38912158 N . N N . . . . . . CCHCR1 6 31142439 31158238 N . N N 1.432285506 96.58505528 6.50E-08 86.6 DP . CCIN 9 36169394 36171334 N . N N 0.166608064 62.25617873 0.010492041 54.7 . . CCK 3 42257825 42266207 N Viable N Y 0.078032613 55.54205012 0.023105402 50.9 DP . CCKAR 4 26481400 26490462 N . N Y 0.450766518 78.38166348 0.017408483 52.3 DP . CCKBR 11 6259736 6272127 N . N Y 0.141228615 60.28824449 9.67E-05 72 DP . CCL1 17 34360328 34363231 N . N Y 0.206542259 64.76240088 0.063040841 45.7 . . CCL11 17 34285668 34288334 N . N Y -0.004501323 49.10574753 0.083041004 44.2 FP {HIV1, resistance to}, 609423 (3); {Asthma, susceptibility to}, 600807 (3) CCL13 17 34356452 34358610 N . N N 0.502036857 80.5116629 0.051133284 46.9 FP . CCL14 17 35983291 35987004 N . N N 0.381984452 75.00723505 0.000121912 71.3 . . CCL15 17 35996440 36002038 N . N N 0.768480455 88.5223129 0.076707705 44.6 . . CCL15-CCL14 17 35983656 36001621 N . N N . . . . . . CCL16 17 35976493 35981496 N . N N 0.70749651 87.0579383 0.09206146 43.6 . . CCL17 16 57404767 57416062 N . N Y 0.304083576 70.74144817 0.077124722 44.6 FP . CCL18 17 36064280 36072032 N . N N 0.266567586 68.44359553 0.010306615 54.8 . . CCL19 9 34689567 34691277 N . N Y 0.152107222 61.13329861 0.317197583 35.2 . . CCL2 17 34255218 34257203 N . N Y 0.228095308 66.11101464 0.667686005 25.6 DFP {HIV-1, resistance to}, 609423 (3); {Spina bifida, susceptibility to}, 182940 (3); {Coronary artery disease, modifier of} (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) CCL20 2 227813842 227817564 N . N N 0.244058053 67.12392198 0.087740002 43.9 . . CCL21 9 34709005 34710124 N . N N 0.018007904 50.90004052 0.110386514 42.6 . . CCL22 16 57358772 57366190 N . N Y 0.184989352 63.48903166 0.279053455 36.2 DP . CCL23 17 36013056 36017968 N . N N 0.284443026 69.58383979 0.042812014 47.9 . . CCL24 7 75811665 75823356 N . N Y 0.230008154 66.23835157 0.01718922 52.4 . . CCL25 19 8052767 8062650 N . N Y 0.540509506 82.06864618 0.169939684 39.7 . . CCL26 7 75769533 75789896 N Viable N Y 0.281573966 69.3928344 0.019786154 51.8 DM? . CCL27 9 34661880 34664048 N . N N 0.230008154 66.23835157 0.016889411 52.5 . . CCL28 5 43376645 43412391 N . N N 0.268480327 68.6056607 0.281065701 36.2 . . CCL3 17 36088256 36090169 N . N Y 0.411041265 76.39636511 0.145338664 40.8 . {HIV infection, resistance to}, 609423 (2) CCL3L3 17 36194869 36196758 N . N N . . . . . . CCL4 17 36103590 36105621 N . N N 0.487986222 79.98495109 0.264898889 36.7 . . CCL4L2 17 36210924 36212878 N . N N . . 0.48993731 30.2 . . CCL5 17 35871491 35880793 N . N Y 0.312543059 71.22764369 0.012909422 53.9 DFP {HIV-1 disease, delayed progression of} (3); {HIV-1 disease, rapid progression of} (3) CCL7 17 34270221 34272242 N . N Y 0.374481231 74.6541645 0.009262338 55.2 DFP . CCL8 17 34319036 34321402 N Viable N Y 0.510496156 80.89367367 0.052901134 46.7 . . CCM2L 20 32010450 32032180 N . N Y 0.039711445 52.54384442 0.000537998 66.8 . . CCNA1 13 36431520 36442882 N . N Y -0.099974947 42.10800486 0.009906296 55 . . CCNB1IP1 14 20311368 20333312 N . N N 0.310778106 71.09451872 0.183416412 39.2 . . CCNB3 X 50202713 50351910 N . N N 0.347790268 73.27661052 0.570886943 28.2 . . CCNC 6 99542380 99568973 N . N N -0.171482763 37.26341379 0.990104534 9.9 . . CCND2 12 4273772 4305350 N . N Y -0.297120516 29.6000463 0.949000818 14.8 . Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3) CCND3 6 41934933 42050357 N . N Y 0.098778904 57.07588123 0.946445162 15.1 . . CCNDBP1 15 43185118 43197176 N . N Y -0.497789345 20.304451 0.037272546 48.6 . . CCNE1 19 29811898 29824308 N . N Y -0.33080711 27.69578052 0.268926805 36.5 DFP . CCNE2 8 94879770 94896678 N . N Y -0.241727755 32.9281704 0.338179976 34.6 . . CCNG1 5 163437569 163446151 N . N Y 0.212281357 65.20808011 0.359162745 33.9 . . CCNG2 4 77157151 77433388 N . N N -0.240770687 32.9976269 0.89320436 18 . . CCNH 5 87391494 87413019 N . N N 0.822104421 89.58152457 0.004729763 58.4 . . CCNI 4 77047158 77076005 N . N Y -0.331764245 27.65526422 0.789094043 22 . . CCNI2 5 132747445 132754403 N . N N 0.194405525 64.08519998 4.53E-05 74.2 . . CCNJ 10 96043394 96060870 N . N N -0.340224471 27.22116108 0.983940396 11.1 . . CCNJL 5 160251652 160345396 N . N N -0.120570168 40.6899346 1.95E-05 76.3 . . CCNL1 3 157146508 157160760 N . N N -0.293291902 29.80841581 0.942872593 15.4 . . CCNL2 1 1385711 1399328 N . N N 0.097167572 5.69E+01 0.104548195 42.8 . . CCNO 5 55231152 55233680 N . N N 0.538742637 81.99918967 0.040710125 48.2 . Ciliary dyskinesia, primary, 29, 615872 (3) CCNT1 12 48688458 48716998 N . N N 0.167564929 62.36036349 0.995809373 8.1 . . CCNY 10 35247025 35572669 N . N Y -0.135728413 39.6828153 0.384469091 33.2 . . CCNYL1 2 207711540 207761839 N . N Y -0.047605945 46.02072119 0.977770144 12.1 . . CCP110 16 19523811 19553408 N . N N -0.591201517 17.01105516 0.015731918 52.9 . . CCPG1 15 55340032 55408510 N . N N -0.310864193 28.90548128 0.962563039 13.7 . . CCR1 3 46201709 46208396 N . N Y 0.002196401 49.64982346 0.891828752 18.1 DP . CCR2 3 46353734 46360928 N . N Y -0.607465004 16.53643572 0.011463318 54.3 DP {HIV infection, susceptibility/resistance to} (3) CCR3 3 46163604 46266706 N . N Y 1.021979115 93.07171384 0.031893053 49.4 DFP . CCR4 3 32951574 32956349 N . N Y -0.610336728 16.45540314 0.760806753 22.8 . . CCR5 3 46370854 46376206 N . N Y 0.553897176 82.57799386 3.51E-08 87.4 DFP {HIV infection, susceptibility/resistance to} (3); {West nile virus, susceptibility to}, 610379 (3); {Hepatitis C virus, resistance to}, 609532 (3); {Diabetes mellitus, insulin-dependent, 22}, 612522 (3) CCR6 6 167111807 167139696 N Viable N Y -0.421801054 23.46472188 0.066481499 45.4 DFP . CCR7 17 40553769 40565472 N . N Y -0.496832081 20.33339121 0.647008605 26.1 FP . CCR8 3 39329706 39333511 N . N Y 0.322107219 71.89326851 0.017625819 52.3 . . CCR9 3 45886504 45903177 N . N Y 0.57162449 83.15679806 0.004640309 58.5 . . CCRL2 3 46407163 46412997 N . N Y 0.210518064 65.10968339 0.002163778 61.6 DP . CCS 11 66592821 66606019 N . N Y -0.042821613 46.39115587 3.77E-06 80.1 DM . CCSAP 1 229321005 229343294 N . N N 0.367934269 74.27215373 0.111783071 42.5 . . CCSER1 4 90127535 91601913 N . N N 0.065242053 54.58123517 0.211350847 38.4 . . CCSER2 10 84328586 84518521 N . N N -0.630630498 15.85923482 0.475105131 30.7 . . CCT2 12 69585334 69601570 N . N N -0.780997286 11.9754587 0.999501007 5.2 . . CCT4 2 61868089 61888804 N . N N -0.301598985 29.37431267 0.99918405 5.7 . . CCT5 5 10249921 10266412 N . N N -0.688086328 14.26173525 0.998786782 6.1 DM Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3) CCT6A 7 56051630 56063989 N . N N -0.167501818 37.55860392 0.998661755 6.3 . . CCT6B 17 34927859 34981078 N . N N 0.503288375 80.58111941 8.86E-05 72.3 . . CCT7 2 73233420 73253021 N . N N -0.591501503 16.99369103 0.989844502 10 . . CCT8 21 29055805 29073797 N . N N -0.628060421 15.93447937 0.98279276 11.3 . . CCT8L2 22 16590751 16592810 N . N N 1.046553959 93.33217572 0.001833343 62.2 . . CCZ1 7 5898725 5926550 N . N N 0.48445544 79.89234242 0.994694688 8.5 . . CCZ1B 7 6794134 6826770 N . N N 0.610097161 84.49383574 . . . . CD101 1 117001750 117036476 N . N Y 0.951245864 92.02407825 5.54E-10 91.6 . . CD109 6 73695785 73828316 N Viable N Y 1.033174539 93.18168664 2.29E-32 99.8 FP . CD14 5 140631728 140633701 N . N Y -0.371997156 25.78572669 6.69E-05 73.1 DFP . CD151 11 832843 839831 N . N Y -0.080336605 43.59553163 0.001643112 62.7 DM? Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3); [Blood group, Raph], 179620 (3) CD160 1 145719471 145739288 N . N N 0.178442775 63.08386873 1.91E-05 76.4 . . CD163 12 7470813 7503893 N Viable N Y -0.413845749 23.73675985 0.015136904 53.1 . . CD163L1 12 7346685 7479897 N . N N 0.258221817 67.93424784 2.22E-17 97.9 . . CD164 6 109366514 109382559 N . N N -0.041059779 46.53585692 0.401084248 32.7 . . CD164L2 1 27379176 27383380 N . N N 0.079946001 55.69832726 0.033744866 49.1 . . CD177 19 43353659 43363172 N . N N -0.340071051 27.25010129 . . DM . CD180 5 67179613 67196799 N . N Y 0.426495593 77.18932685 1.35E-05 77.3 . . CD19 16 28931939 28939346 N . N Y -0.521102007 19.43624472 0.853622377 19.7 DM Immunodeficiency, common variable, 3, 613493 (3) CD1A 1 158254137 158258269 N . N N 0.318430612 71.66753487 5.01E-17 97.8 DP . CD1B 1 158327951 158331531 N . N N 0.515424669 81.09625514 1.15E-07 86 . . CD1C 1 158289786 158293630 N . N N -0.221936642 34.22469179 6.44E-07 83.3 . . CD1D 1 158179947 158184896 N . N Y 0.703005985 86.95375355 0.000899329 65.1 . . CD1E 1 158353696 158357553 N . N N 0.517337954 81.13677143 8.78E-13 95.3 DP . CD2 1 116754385 116769228 N . N Y -0.123440781 40.55680963 0.768323769 22.7 DP . CD200 3 112332347 112362812 N . N Y 0.038754674 52.485964 0.16023863 40.2 . . CD200R1 3 112921209 112975122 N . N Y 0.450616788 78.37587544 7.04E-09 89.3 . . CD200R1L 3 112815709 112846856 N Viable N Y 0.427150878 77.22984314 0.003062273 60.3 . . CD207 2 70830214 70835822 N . N Y . . 1.65E-06 81.7 DM ?[Birbeck granule deficiency], 613393 (3) CD209 19 7739994 7747564 N . N Y 0.447896377 78.26590265 2.96E-08 87.6 DFP {Dengue fever, protection against}, 614371 (3); {HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) CD22 19 35319261 35347355 N . N Y -0.107981578 41.58708109 0.030849875 49.5 DP . CD226 18 69831158 69961803 N . N Y 0.610097161 84.49383574 0.505154015 29.8 DFP . CD24 6 106969831 106975627 N . N Y . . . . DFP . CD244 1 160830160 160862855 N . N Y 0.066047521 54.62175146 0.001747172 62.4 DFP {Rheumatoid arthritis, susceptibility to}, 180300 (3) CD248 11 66314487 66317044 N Viable N Y 0.982851246 92.56236615 0.541815275 28.8 . . CD27 12 6444867 6451718 N . N Y -0.226721694 33.94107773 0.266793353 36.6 DM Lymphoproliferative syndrome 2, 615122 (3) CD276 15 73683966 73714518 N . N Y 0.960340612 92.2092956 2.02E-05 76.2 . . CD28 2 203706475 203738912 N . N Y 0.241337169 66.9618568 0.511989197 29.6 . . CD2AP 6 47477789 47627263 N . N Y 0.059652711 54.08346356 0.813221347 21.2 DM Glomerulosclerosis, focal segmental, 3, 607832 (3) CD2BP2 16 30350766 30355361 N . N N -0.181550908 36.64988135 0.000336174 68.3 . . CD300A 17 74466416 74484796 N . N Y 0.124158088 59.0611796 8.94E-07 82.7 . . CD300C 17 74541108 74546143 N . N Y 0.084729555 56.09191411 0.000578296 66.6 . . CD300E 17 74609887 74623738 N . N N . . 0.080460666 44.4 . . CD300LB 17 74521174 74531474 N . N Y . . 0.000639118 66.3 . . CD300LD 17 74579365 74592283 N . N N 0.833287532 89.86513862 0.046219391 47.4 . . CD300LF 17 74694311 74712978 N . N Y 0.489089088 80.05440759 4.97E-06 79.6 . . CD300LG 17 43847148 43863629 N . N Y 0.589500178 83.82242287 0.029935109 49.6 DP . CD302 2 159768630 159798255 N . N N -0.116090248 41.04300515 0.009385287 55.2 . . CD320 19 8302127 8308356 N . N N 0.621278951 84.78323783 0.05992656 46 DM Methylmalonic aciduria due to transcobalamin receptor defect, 613646 (3) CD33 19 51225064 51243860 N Viable N Y 1.539909426 97.16964751 2.31E-05 75.9 DP . CD34 1 207880972 207911402 N . N Y 0.479673105 79.74185333 0.003449569 59.8 . . CD36 7 80369575 80679277 N . N Y 0.910689415 91.28899693 8.31E-46 100 DM [Macrothrombocytopenia] (1); Platelet glycoprotein IV deficiency, 608404 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Malaria, cerebral, reduced risk of}, 611162 (3); {Coronary heart disease, susceptibility to, 7}, 610938 (3) CD37 19 49335171 49343335 N . N Y -0.133814513 39.83909244 0.006401814 56.9 . . CD38 4 15778275 15853230 N . N Y 0.502182723 80.52902703 7.66E-05 72.7 DP . CD3D 11 118338954 118342744 N . N Y 0.012418429 50.43120912 0.006627946 56.8 DM Immunodeficiency 19, 615617 (3) CD3E 11 118304545 118316175 N . N Y 0.247883787 67.32650344 0.302672925 35.7 DM Immunodeficiency 18, 615615 (3); Immunodeficiency 18, SCID variant, 615615 (3) CD3EAP 19 45406209 45410766 N . N N 0.413251052 76.53527812 5.69E-05 73.5 DP . CD3G 11 118344344 118355161 N . N Y 0.344468409 73.11454535 0.025030528 50.5 DM Immunodeficiency 17, CD3 gamma deficient, 615607 (3) CD4 12 6786858 6820808 N . N Y 0.886914013 90.88962204 0.001506887 63 FP OKT4 epitope deficiency, 613949 (3) CD40 20 46118272 46129863 N . N Y 0.250753302 67.48856862 0.658237504 25.8 DM Immunodeficiency with hyper-IgM, type 3, 606843 (3) CD40LG X 136648193 136660390 N . N Y 0.131510986 59.50685883 0.864433713 19.3 DM Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) CD44 11 35138870 35232402 N . N Y 0.70139538 86.92481334 0.008269385 55.7 DFP [Blood group, Indian system], 609027 (3) CD46 1 207752057 207795513 N . N Y -0.289463756 30.10939399 0.000191603 69.9 DM {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3) CD47 3 108043298 108091025 N . N Y -0.350599275 26.7407536 0.886113811 18.4 . . CD48 1 160678746 160711851 N . N Y 0.296728366 70.30734503 0.000152359 70.6 . . CD5 11 61102395 61127852 N Viable N Y -0.07363864 44.1569717 2.73E-05 75.4 DM? . CD52 1 26317957 26320523 N . N Y 0.546101147 82.2654396 0.530686212 29.1 . . CD53 1 110873154 110899928 N . N N -0.076661182 43.91387394 0.024019828 50.7 . . CD55 1 207321508 207360966 N . N Y -0.093428832 42.59420038 2.49E-07 84.8 DFP [Blood group Cromer], 613793 (3) CD58 1 116514535 116571039 N . N N 0.315412023 71.43022515 0.299199171 35.7 DFP . CD59 11 33698261 33736445 N . N Y -0.027010532 47.48509579 0.068380919 45.2 DM Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3) CD5L 1 157830914 157898256 N Viable N Y -0.114980914 41.14140186 7.10E-07 83.1 . . CD6 11 60971680 61020377 N . N N -0.512641945 19.71985877 0.004304658 58.8 DFP . CD63 12 55725323 55729707 N . N Y -0.015680094 48.2317532 0.007160776 56.5 . . CD68 17 7579467 7582113 N . N Y -0.076509147 43.9370261 0.000599774 66.5 . . CD69 12 9752486 9760901 N . N Y 0.080902701 55.81408809 0.018883358 52 . . CD7 17 82314868 82317602 N . N Y 0.657839783 85.8424495 0.445277574 31.6 . . CD70 19 6583183 6604103 N . N Y -0.237096056 33.23493662 0.045752208 47.5 . . CD72 9 35609533 35646810 N . N Y 0.108195341 57.87463101 0.956612026 14.2 FP . CD74 5 150401637 150412929 N . N Y 0.507773402 80.77212479 0.050058058 47 . . CD79A 19 41877120 41881372 N . N Y 0.528370887 81.58245066 0.94856776 14.9 DM Agammaglobulinemia 3, 613501 (3) CD79B 17 63928740 63932354 N . N Y -0.001630854 49.29675291 0.950002657 14.8 DM Agammaglobulinemia 6, 612692 (3) CD80 3 119524293 119559602 N . N Y 0.213237933 65.26017248 0.255224581 36.9 . . CD81 11 2376177 2397419 N . N Y -0.561644168 17.8734734 0.950521598 14.7 DM Immunodeficiency, common variable, 6, 613496 (3) CD82 11 44564427 44620363 N . N N 0.238616903 66.76506338 0.004961833 58.1 . {Prostate cancer, susceptibility to}, 176807 (2) CD83 6 14117256 14136918 N Viable N Y 0.332331078 72.43734445 0.017780686 52.2 . . CD84 1 160541095 160579516 N Viable N Y 0.33806995 72.74989871 0.000390057 67.8 . . CD86 3 122055366 122121139 N . N Y 0.583762331 83.63720553 0.962700436 13.7 DFP . CD8A 2 86784610 86808396 N . N Y 0.021835061 51.22417086 0.024181099 50.6 DM CD8 deficiency, familial, 608957 (3) CD8B 2 86815339 86861924 N . N Y 0.224417956 65.88528101 0.412381163 32.5 . . CD9 12 6199715 6238271 N . N Y 0.014332026 50.57012213 0.147688595 40.7 . . CD93 20 23079349 23086340 N . N Y 1.281245278 95.67054465 7.82E-10 91.3 . . CD96 3 111292719 111665750 N . N N -0.362428915 26.23719396 1.00E-05 78 DM C syndrome, 211750 (3) CD99 X 2691179 2741309 N . N N 0.370803213 74.41685478 0.217612898 38.1 . . CD99L2 X 150766337 150898816 N . N N 0.673802557 86.26497656 0.003341338 59.9 . . CDA 1 20588948 20618908 N . N N 0.321958851 71.87011634 0.787227682 22.1 DM? . CDADC1 13 49247925 49293485 N . N N -0.245402639 32.7487411 6.89E-08 86.6 . . CDC14A 1 100351734 100520277 N . N N -0.552877054 18.12814725 0.015618479 52.9 . . CDC14B 9 96490241 96619830 N . N Y -0.243488712 32.84134977 0.576306679 28.1 . . CDC16 13 114234887 114272723 N . N N -0.400095467 24.4197488 0.95225535 14.5 . . CDC20B 5 55112995 55173175 N . N N 0.368232636 74.30688198 1.44E-11 94.1 . . CDC23 5 138187648 138213343 N . N N -0.676908408 14.57428952 0.999307693 5.5 . . CDC25B 20 3786772 3806121 N . N Y 0.179700355 63.18226544 0.590733232 27.7 . . CDC25C 5 138285265 138338355 N . N Y -0.059589522 45.15830295 3.01E-08 87.6 . . CDC27 17 47117703 47189422 N . N N 4.646981931 99.82635874 0.486673202 30.3 FTV . CDC37 19 10391134 10420121 N . N N -0.002436163 49.25623662 0.962357896 13.7 . . CDC37L1 9 4679559 4708398 N . N N -0.285788866 30.29461133 0.935601046 15.8 . . CDC40 6 110180141 110254275 N . N N -0.306383832 29.09069862 0.973128081 12.6 . . CDC42BPA 1 226989865 227318474 N . N N -1.783314704 2.239972217 0.999920148 3.6 . . CDC42BPB 14 102932379 103057462 N . N N -2.63077268 0.856630202 1 0.5 DM . CDC42BPG 11 64823387 64844569 N . N N -0.560628611 17.90241361 1.41E-17 98 . . CDC42EP1 22 37560447 37569405 N . N N 0.8382163 89.98089946 1.06E-05 77.9 . . CDC42EP2 11 65314818 65322429 N . N N 0.272306077 68.81981826 0.150921493 40.5 . . CDC42EP3 2 37641882 37738468 N . N N -0.27924293 30.68241014 0.275699033 36.3 . . CDC42EP4 17 73283624 73312175 N . N N 0.341896466 72.98142039 0.097590183 43.3 . . CDC42EP5 19 54465026 54473264 N . N N . . 0.359353006 33.9 . . CDC42SE1 1 151050971 151070325 N . N N 0.08362237 55.98772935 0.013519491 53.7 . . CDC42SE2 5 131245493 131398447 N . N N 0.076119241 55.36840887 0.753728627 23 . . CDC5L 6 44387525 44450426 N . N N -0.973216156 8.317416218 0.999992549 2.4 . . CDCA2 8 25458997 25507920 N . N N -0.043173207 46.36221566 1.61E-05 76.8 . . CDCA3 12 6844793 6852066 N . N N 0.060307001 54.1297679 0.913578465 17.1 . . CDCA4 14 105009573 105021148 N . N N 0.245163355 67.1818024 0.499553163 30 . . CDCA7 2 173354820 173368997 N . N N -0.646895469 15.48880014 0.141954503 41 . . CDCA7L 7 21900900 21946084 N . N N 0.01926743 51.03895352 0.120661405 42 DM? . CDCP1 3 45082278 45146422 N . N Y -0.007722577 48.82213347 0.021152526 51.3 . . CDCP2 1 54133074 54153770 N . N N 0.793195884 89.0606008 6.92E-10 91.4 FTV . CDH10 5 24487100 24644978 N Viable N Y -1.410357166 3.872200035 0.309152977 35.5 . . CDH11 16 64943753 65126112 N . N N -0.745093372 12.7626324 0.999267145 5.6 . . CDH12 5 21750673 22853622 N . N N -0.782610543 11.92915437 0.001451194 63.2 DP . CDH13 16 82626803 83800640 N Viable N Y -0.186838866 36.34311512 0.217594377 38.1 DM? . CDH15 16 89171767 89195492 N . N Y -0.019707016 47.91341089 5.96E-12 94.5 DM Mental retardation, autosomal dominant 3, 612580 (3) CDH16 16 66908122 66918984 N . N N -0.652995945 15.28621867 6.80E-13 95.4 . . CDH17 8 94127171 94217303 N . N Y -0.421348952 23.48208601 2.81E-06 80.6 . . CDH18 5 19472951 20575873 N . N N -1.291100353 4.734618279 0.46392646 31 DM? . CDH19 18 66501083 66604138 N . N N 0.123656278 59.02645135 1.92E-09 90.5 DM? . CDH20 18 61333582 61555773 N . N N -0.834178931 10.89888291 0.980513136 11.7 . . CDH22 20 46173733 46308498 N . N N -0.575386652 17.49725068 . . . . CDH23 10 71396934 71815947 N . N Y -1.302644029 4.688313943 0.050692959 46.9 DM Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive 12, 601386 (3); Usher syndrome, type 1D/F digenic, 601067 (3) CDH24 14 23047062 23057538 N . N N -0.150430658 38.69884818 6.70E-05 73 . . CDH26 20 59958427 60034011 N Viable N Y 1.521544591 97.0712508 5.56E-23 99.1 . . CDH3 16 68636189 68722616 N . N Y -0.374417221 25.7046941 1.81E-08 88.3 DM Mental retardation, autosomal dominant 3, 612580 (3) CDH4 20 61252426 61940617 N Viable N Y -0.314244952 28.58713897 0.966988414 13.4 FP . CDH6 5 31193750 31329146 N . N Y -1.076354181 6.847253574 0.980834799 11.6 . . CDH7 18 65750252 65890341 N . N N -1.452514503 3.640678359 0.763007123 22.8 . . CDH8 16 61647242 62037035 N . N Y -0.984396794 8.143774961 0.997463771 7.3 DM . CDH9 5 26880600 27121150 N . N N -1.020958787 7.611275106 0.99248359 9.3 . . CDHR1 10 84194635 84219621 N . N Y 1.432452422 96.59084332 5.15E-10 91.7 DM Cone-rod dystrophy 15, 613660 (3); Retinitis pigmentosa 65, 613660 (3) CDHR2 5 176542511 176595974 N . N N -0.922741915 9.17404642 6.37E-10 91.5 . . CDHR3 7 105876796 106033773 N . N N 0.270999829 68.74457371 6.99E-13 95.4 . . CDHR4 3 49790732 49799835 N . N N . . 0.013473949 53.7 . . CDHR5 11 616565 626078 N . N N 1.232898551 95.32905018 1.31E-10 92.8 . . CDIP1 16 4510675 4538828 N . N N 0.018007904 50.90004052 0.734505012 23.6 . . CDK10 16 89680737 89696364 N . N N 0.107389526 57.79938647 2.34E-10 92.3 . . CDK11A 1 1702730 1724324 N . N N 0.926496713 91.63627945 5.24E-05 73.7 DM? . CDK12 17 39461511 39564907 N . N N -1.820954607 2.135787463 0.999991813 2.5 . . CDK13 7 39950037 40097134 N . N N -0.950414433 8.705215026 0.751250538 23.1 . . CDK14 7 90466424 91210590 N . N Y -0.237899627 33.20599641 0.476260128 30.7 FTV . CDK15 2 201790461 201895550 N Viable N Y 0.366319083 74.16796898 5.06E-13 95.5 . . CDK16 X 47217860 47229997 N . N Y -0.327132777 27.8867859 0.995702616 8.1 . . CDK17 12 96278261 96400560 N . N N -0.662859235 14.96208833 0.988843485 10.2 . . CDK18 1 205504595 205532793 N . N N 0.326890353 72.17109452 7.16E-08 86.5 . . CDK19 6 110609978 110815958 N . N N -0.431218644 23.11743937 0.998017091 6.9 . . CDK20 9 87966441 87974753 N . N N 0.068917845 54.82433293 7.19E-12 94.4 . . CDK2AP2 11 67506497 67508649 N . N N 0.167113525 62.29669503 0.256474774 36.9 . . CDK3 17 76000906 76005999 N . N N 0.185138978 63.52375991 0.000751723 65.7 . . CDK5R1 17 32486619 32491256 N . N Y -0.469691512 21.4504833 0.738441122 23.5 DM . CDK5R2 2 218959655 218962162 N . N Y 0.025510984 51.4499045 . . . . CDK5RAP1 20 33358839 33401561 N . N N 0.506158829 80.71424437 1.08E-14 96.7 . . CDK5RAP3 17 47967810 47981774 N . N N 0.695652645 86.80326446 2.87E-12 94.9 DFP . CDK6 7 92604921 92836594 N . N Y -0.283071606 30.49140476 0.923677276 16.5 . ?Microcephaly 12, primary, autosomal recessive, 616080 (3) CDKAL1 6 20534457 21232404 N Viable N Y -0.278133044 30.72292643 0.577650481 28.1 DM? {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) CDKL1 14 50329404 50416461 N . N N 0.389635172 75.36030561 3.60E-05 74.7 . . CDKL2 4 75578005 75630716 N Viable N Y -0.071725006 44.30746079 1.87E-09 90.6 . . CDKL3 5 134286350 134371047 N . N N 0.376541981 74.76413729 4.33E-07 83.9 DM? . CDKL4 2 39175646 39229588 N . N N 0.434654036 77.61764195 3.69E-08 87.4 . . CDKL5 X 18425583 18653629 N . N Y -1.019194721 7.640215315 0.997790055 7.1 DM Epileptic encephalopathy, early infantile, 2, 300672 (3) CDKN1A 6 36676460 36687339 N Viable N Y 0.248840271 67.3901719 0.027202551 50.2 DM . CDKN1B 12 12715058 12722371 N . N Y 0.465623125 79.12832089 0.847005306 20 DM Multiple endocrine neoplasia, type IV, 610755 (3) CDKN2A 9 21967753 21995301 N . N Y 1.161684198 94.6402732 0.357648776 34 DM {Melanoma, cutaneous malignant, 2}, 155601 (3); Melanoma and neural system tumor syndrome, 155755 (3); Pancreatic cancer/melanoma syndrome, 606719 (3); Orolaryngeal cancer, multiple, (3) CDKN2AIP 4 183444591 183448198 N . N N -0.785629384 11.82496961 0.987251416 10.5 . . CDKN2AIPNL 5 134402087 134411898 N Viable N Y 0.108045035 57.83990276 0.058245191 46.2 . . CDKN2B 9 22002903 22009363 N . N Y -0.076661182 43.91387394 0.281057557 36.2 DM . CDKN2C 1 50960745 50974633 N . N Y -0.027010532 47.48509579 0.315707026 35.3 DM . CDKN2D 19 10566462 10569059 N . N Y 0.085535714 56.11506627 0.147286959 40.7 . . CDKN3 14 54396849 54420218 N . N N 0.366978017 74.20848527 0.066297457 45.4 . . CDNF 10 14819250 14838575 N . N N 0.194405525 64.08519998 0.000111034 71.5 . . CDPF1 22 46244011 46250679 N . N N 0.132467594 59.58789142 0.001138931 64.2 . . CDR1 X 140782405 140784871 N . N N 0.021835061 51.22417086 0.05956161 46.1 FTV . CDR2 16 22345936 22437165 N . N Y -0.855073997 10.47056781 5.61E-06 79.3 . . CDR2L 17 74987632 75005800 N . N N . . 0.001327179 63.6 . . CDRT1 17 15565483 15619704 N . N N 1.384385903 96.30722926 . . . . CDRT15 17 14235673 14236862 N . N N 1.461855466 96.77606066 0.007506438 56.3 . . CDRT15L2 17 20579724 20580911 N . N N . . 0.321628092 35.1 . . CDRT4 17 15436015 15503608 N . N N . . 0.244291014 37.3 . . CDS1 4 84582979 84651338 N . N N 0.147623843 60.84968455 0.005325533 57.8 . Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3); {Breast cancer, susceptibility to}, 114480 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3); {Breast and colorectal cancer, susceptibility to} (3) CDT1 16 88803213 88809258 N . N N 1.169645334 94.74445795 7.76E-09 89.2 DM Meier-Gorlin syndrome 4, 613804 (3) CDV3 3 133573730 133590261 N . N N 0.223461474 65.83897667 0.201907144 38.7 . . CDX1 5 150166795 150184558 N . N Y . . 0.702597063 24.6 DM . CDX4 X 73447254 73455245 N . N Y 0.23383407 66.45250912 0.013558448 53.6 . . CDY1 Y 25622162 25624902 N . N N . . . . . . CDY1B Y 24045229 24048019 N . N N . . . . . . CDY2A Y 18025787 18028597 N . N N . . . . . . CDY2B Y 17877410 17880220 N . N N . . . . . . CDYL 6 4706159 4955551 N . N N -0.908555319 9.434508306 0.946570708 15.1 . . CDYL2 16 80597906 80804329 N . N N -1.038835532 7.402905597 0.624960005 26.8 . . CEACAM1 19 42507304 42561234 N . N Y 0.716248817 87.31261214 0.658400055 25.8 . . CEACAM16 19 44699151 44710714 N Viable N Y 0.037949145 52.39335533 0.029580258 49.7 DM ?Deafness, autosomal dominant 4B, 614614 (3) CEACAM18 19 51478622 51490952 N . N N . . 4.11E-10 91.9 . . CEACAM19 19 44662278 44684359 N . N N 0.805185239 89.25160618 5.78E-07 83.5 . . CEACAM20 19 44501677 44529788 N . N N . . . . . . CEACAM21 19 41549518 41586844 N . N N 0.807097444 89.28054639 2.38E-10 92.3 . . CEACAM3 19 41796437 41811553 N . N N 0.358666204 73.88435492 1.50E-07 85.6 . . CEACAM4 19 41618971 41627074 N . N N 0.700137096 86.89008508 1.68E-06 81.6 . . CEACAM5 19 41576273 41729798 N . N N 0.932242013 91.76940441 3.67E-05 74.7 . . CEACAM6 19 41750977 41772208 N . N N 0.567947004 82.99473288 0.191109811 39 . . CEACAM7 19 41673307 41706976 N . N N 0.693589967 86.75117208 9.14E-07 82.7 . . CEACAM8 19 42580241 42740384 N . N N 0.159910445 61.75261909 1.25E-07 85.9 . . CEBPD 8 47736909 47739086 N . N Y . . 0.540717582 28.9 . . CEBPE 14 23117304 23119616 N . N Y -0.145949748 39.0056144 0.002392376 61.3 DM Specific granule deficiency, 245480 (3) CEBPZ 2 37201612 37231713 N . N N -0.508377015 19.86455982 1.78E-05 76.6 . . CEBPZOS 2 37196488 37216193 N . N N . . . . . . CECR1 22 17178790 17221989 N . N N 0.302618984 70.67777971 5.25E-05 73.7 DM? Polyarteritis nodosa, childhood-onset, 615688 (3); ?Sneddon syndrome, 182410 (3) CECR5 22 17137511 17165287 N . N N -0.673079812 14.68426231 2.11E-08 88.1 DM? . CECR6 22 17116299 17121367 N . N N . . . . . . CEL 9 133061978 133087355 N . N Y 0.771797354 88.60913353 6.34E-05 73.3 DM Maturity-onset diabetes of the young, type VIII, 609812 (3) CELA1 12 51328443 51346679 N . N N 0.623191232 84.85269433 0.129951932 41.6 FTV . CELA2A 1 15456728 15472091 N . N N 0.527561494 81.54772241 1.98E-06 81.3 . . CELA2B 1 15465909 15491400 N . N N -0.260408668 31.84580656 0.000617209 66.4 . . CELA3A 1 22001656 22012539 N . N N 1.052950347 93.40163223 9.82E-08 86.1 . . CELA3B 1 21977021 21998642 N . N N 1.667489557 97.79475603 2.12E-10 92.4 . . CELF2 10 11005321 11336675 N . N N -0.686326345 14.33119176 0.998785801 6.2 . . CELF3 1 151702404 151716814 N . N Y -0.426587603 23.26214042 0.293142911 35.9 . . CELF5 19 3224703 3297076 N . N N -0.891789373 9.747062569 0.996405707 7.8 . . CELF6 15 72284727 72320129 N Viable N Y . . 0.376807001 33.4 DM? . CELSR2 1 109250019 109275750 N . N Y -3.087169748 0.573016149 0.9999992 1.6 . . CEMIP 15 80779343 80951776 N . N N . . . . . . CEMP1 16 2530035 2531417 N . N N 0.361535788 73.98853968 4.84E-09 89.6 . . CEND1 11 787104 790123 N . N Y 0.050890469 53.42941483 0.584353271 27.8 . . CENPB 20 3783851 3786690 N . N Y -0.811010727 11.34456213 0.973451328 12.6 . . CENPBD1 16 89969791 89972534 N . N N . . 0.020072095 51.7 . . CENPF 1 214603195 214664588 N . N N 1.179378975 94.82549054 2.13E-25 99.4 . Ciliary dyskinesia, primary, 31, 616369 (3) CENPI X 101098218 101163681 N . N N 0.521971277 81.33356486 0.996692511 7.7 . . CENPK 5 65517766 65563171 N . N N 0.349250172 73.35185507 1.66E-08 88.4 . . CENPL 1 173799550 173824720 N . N N 0.304231467 70.75881229 0.513926394 29.6 . . CENPM 22 41938721 41947164 N . N N 0.13438084 59.79626092 0.21398356 38.3 . . CENPN 16 81006498 81033114 N . N N 0.101800117 57.35949528 3.16E-05 75.1 . . CENPP 9 92325484 92620533 N . N N 0.46275405 78.96625572 0.023928461 50.7 . . CENPQ 6 49463378 49493107 N . N N 0.30327499 70.71250796 6.27E-07 83.3 . . CENPT 16 67828157 67847811 N . N N -0.089449983 42.83729814 0.055362352 46.4 . . CENPV 17 16342534 16353656 N . N N -0.0579797 45.26827574 0.313327865 35.4 . . CENPW 6 126340174 126348875 N . N N 0.432595039 77.50766916 0.500136307 30 . . CEP104 1 3812081 3857214 N . N N 0.991473777 92.64918678 2.63E-08 87.8 . . CEP112 17 65635538 66192084 N . N N 0.348902918 73.33449094 3.06E-18 98.2 . . CEP120 5 123344885 123423592 N . N N -0.312479128 28.74920414 4.34E-11 93.5 . Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3) CEP126 11 101915015 102001058 N . N N . . . . . . CEP128 14 80476983 80959517 N . N N -0.269225353 31.30173062 4.09E-18 98.2 . . CEP131 17 81189593 81222999 N . N N . . . . . . CEP135 4 55948871 56033363 N . N N -0.226118711 33.95844186 4.85E-17 97.8 DM ?Microcephaly 8, primary, autosomal recessive, 614673 (3) CEP152 15 48712928 48811146 N . N Y 0.409410873 76.30954448 4.42E-21 98.9 DM Microcephaly 9, primary, autosomal recessive, 614852 (3); Seckel syndrome 5, 613823 (3) CEP162 6 84124241 84227635 N . N N . . . . . . CEP170 1 243124428 243255348 N . N N -0.286292138 30.26567112 . . . . CEP170B 14 104865280 104896770 N . N N 0.692459389 86.72223187 0.87050986 19 DM? . CEP19 3 196706277 196712293 N . N Y 0.133424212 59.69786421 0.052618933 46.7 . Morbid obesity and spermatogenic failure, 615703 (3) CEP192 18 12991362 13125052 N . N N 0.539234729 82.02234184 7.44E-10 91.3 . . CEP250 20 35455164 35519280 N . N N 0.015850152 50.67430688 8.25E-17 97.7 . . CEP290 12 88049014 88142216 N . N Y 0.127792229 59.26954911 1.04E-34 99.8 DM Joubert syndrome 5, 610188 (3); Senior-Loken syndrome 6, 610189 (3); Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3); ?Bardet-Biedl syndrome 14, 615991 (3) CEP295 11 93661639 93730358 N . N N . . . . . . CEP295NL 17 78870910 78903217 N Viable N Y . . . . . . CEP350 1 179954738 180114880 N . N N -0.073248487 44.18012386 0.99999639 2.1 . . CEP44 4 174283677 174333380 N . N N 0.300554575 70.56201887 0.000569745 66.6 . . CEP55 10 93496632 93529092 N . N N 1.174924397 94.78497424 1.30E-07 85.8 . . CEP57 11 95789965 95832693 N . N N -0.34661718 26.92597094 0.565432341 28.3 DM Mosaic variegated aneuploidy syndrome 2, 614114 (3) CEP57L1 6 109095110 109163932 N . N N 0.455399499 78.56688082 4.26E-09 89.7 . . CEP63 3 134485743 134575017 N . N N 0.420906656 76.84783238 8.50E-21 98.8 DM ?Seckel syndrome 6, 614728 (3) CEP68 2 65056366 65087004 N . N N 0.769082647 88.54546507 0.371622602 33.6 DP . CEP70 3 138494344 138594538 N . N N 0.224718319 65.9257973 5.95E-11 93.2 . . CEP72 5 612272 667168 N . N N 0.258710853 67.9689761 1.06E-09 91.1 . . CEP76 18 12661833 12702777 N Viable N Y -0.263127019 31.65480118 0.018822651 52 . . CEP78 9 78236062 78279690 N . N N 0.219129001 65.63060717 5.36E-06 79.4 . . CEP83 12 94306449 94459988 N . N N . . . . . Nephronophthisis 18, 615862 (3) CEP85 1 26234153 26279038 N . N N -0.033101966 47.07414482 0.005851269 57.4 . . CEP85L 6 118460772 118710075 N . N N -0.018095978 48.04653586 0.004963907 58.1 . . CEP89 19 32875925 32971991 N . N N 1.927762929 98.43722869 4.17E-20 98.7 DM . CEP95 17 64506588 64542461 N . N N -0.320130544 28.29773688 9.44E-12 94.3 . . CEP97 3 101723925 101770562 N . N N 0.10482249 57.59101696 1.33E-06 82.2 . . CEPT1 1 111139627 111185102 N . N N -0.302709198 29.29906813 0.94656469 15.1 . . CER1 9 14719724 14722717 N . N Y -0.412383648 23.80042832 2.58E-05 75.6 DP . CERCAM 9 128411751 128437351 N . N N 0.731408503 87.61359032 0.018254249 52.1 . . CERK 22 46684411 46738261 N . N Y 0.467686361 79.23250564 1.60E-05 76.8 . . CERKL 2 181536676 181680665 N . N N 0.947092883 91.96619784 5.40E-11 93.3 DM Retinitis pigmentosa 26, 608380 (3) CERS1 19 18868545 18896727 N . N Y -0.190163599 36.15789778 0.045457044 47.5 . ?Epilepsy, progressive myoclonic, 8, 616230 (3) CERS2 1 150960583 150975004 N . N N -0.595330347 16.85477803 0.910163043 17.3 . . CERS4 19 8206736 8262421 N . N Y -0.192729499 36.01898478 2.04E-13 95.8 . . CERS5 12 50129306 50167533 N Viable N Y 0.018159209 50.92319268 1.31E-05 77.3 . . CERS6 2 168455862 168775137 N . N Y -0.237899627 33.20599641 0.684541332 25 . . CES1 16 55802851 55833337 N . N N 1.892947107 98.38513631 6.77E-14 96.2 DM Carboxylesterase 1 deficiency (3) CES2 16 66934444 66945096 N . N N -0.648506122 15.42513168 1.08E-10 92.9 FP . CES3 16 66961237 66975148 N . N Y 1.040964966 93.28008335 2.06E-08 88.1 . . CES4A 16 66988589 67009758 N Viable N Y 0.173002985 62.75973838 0.000495399 67.1 . . CES5A 16 55846154 55956031 N . N N 1.438831465 96.63135961 5.95E-19 98.4 . . CETN1 18 580357 582114 N . N N -0.071071979 44.35376512 0.531422797 29.1 . . CETN2 X 152826973 152830777 N . N Y 0.289077164 69.85587776 0.451744392 31.3 . . CETN3 5 90392261 90409786 N . N N -0.224004258 34.09156682 0.01132078 54.4 . . CETP 16 56961850 56983845 N . N N -0.061351631 45.00781386 5.18E-12 94.6 DM Hyperalphalipoproteinemia, 143470 (3); [High density lipoprotein cholesterol level QTL 10], 143470 (3) CFAP126 1 161364731 161367874 N . N Y . . . . . . CFAP20 16 58113588 58129450 N . N N . . . . . . CFAP221 2 119544432 119662251 N . N N . . . . . . CFAP36 2 55519604 55545879 N . N Y . . . . . . CFAP43 10 104129888 104232362 N . N N . . . . . . CFAP44 3 113286930 113441610 N . N N . . . . . . CFAP45 1 159872364 159900163 N . N N . . . . . . CFAP46 10 132808392 132942823 N . N N . . . . . . CFAP47 X 35919734 36385319 N . N N . . . . . . CFAP52 17 9576627 9643459 N . N N . . . . . . CFAP53 18 50227193 50266522 N . N N . . . . . . CFAP54 12 96489571 96875555 N . N N . . . . . . CFAP57 1 43172149 43254358 N . N N . . . . . . CFAP58 10 104353764 104455090 N . N N . . . . . . CFAP61 20 20052514 20360702 N . N N . . . . . . CFAP69 7 90245174 90311063 N Viable N Y . . . . . . CFAP70 10 73253759 73358859 N . N N . . . . . . CFAP74 1 1921951 2003837 N . N N . . . . . . CFAP97 4 185159665 185209504 N . N N . . . . . . CFAP99 4 2418974 2462963 N . N N . . . . . . CFB 6 31945650 31952084 N Viable N Y -0.287398361 30.21936679 0.000978859 64.8 DM {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3); ?Complement factor B deficiency, 615561 (3) CFC1B 2 130521197 130528604 N . N N . . . . . . CFD 19 859643 863630 N . N Y . . 0.019566874 51.8 DM Complement factor D deficiency, 613912 (3) CFDP1 16 75293698 75433485 N . N N 0.132617807 59.62261967 0.084939582 44.1 . . CFH 1 196651878 196747504 N . N Y -0.289822764 30.07466574 0.999630968 4.9 DM {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3) CFHR1 1 196819757 196832189 N . N N 0.739566505 87.83932396 0.000909322 65.1 DM {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) CFHR2 1 196943772 196959226 N . N N 0.541611524 82.1265266 8.62E-09 89.1 DM . CFHR3 1 196774795 196795406 N . N N 1.430065809 96.55611507 1.22E-05 77.6 DM {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) CFHR4 1 196850241 196918972 N . N N 1.611432942 97.55744632 1.90E-13 95.9 . . CFHR5 1 196977556 197009674 N . N N 0.761421735 88.33709556 9.57E-22 99 DM Nephropathy due to CFHR5 deficiency, 614809 (3) CFI 4 109740694 109802179 N Viable N Y 0.55404856 82.58378191 2.24E-05 75.9 DM Complement factor I deficiency, 610984 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3); {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3) CFP X 47624213 47630305 N . N Y 0.277896289 69.16131273 0.944168669 15.3 DM . CGA 6 87085498 87095406 N . N Y -0.082402837 43.40452625 0.251018987 37.1 DFP . CGB 19 49022869 49024333 N . N N . . 0.57407227 28.1 DM? . CGB1 19 49035610 49036895 N . N N 0.991820467 92.66655091 0.267464648 36.6 . . CGB2 19 49031912 49033238 N . N N . . 0.069421978 45.1 . . CGB5 19 49043884 49045311 N . N N . . . . . . CGB7 19 49054275 49058860 N . N N 0.868894179 90.55391561 0.013101838 53.8 . . CGB8 19 49047638 49049106 N . N N . . 0.091777955 43.7 . . CGGBP1 3 88051944 88149885 N . N N -0.149930626 38.75094056 0.777631518 22.4 . . CGNL1 15 57375967 57550727 N . N N 0.992954836 92.68391503 9.05E-14 96.1 . . CGREF1 2 27098889 27119115 N . N N 0.070680254 54.93430572 5.50E-08 86.8 . . CGRRF1 14 54509812 54539309 N . N N 0.032208434 52.02870869 0.005226927 57.9 . . CH17-140K24.5 5 141182409 141188582 N . N N . . . . . . CH17-140K24.8 5 141223372 141245861 N . N N . . . . . . CH25H 10 89205629 89207314 N Viable N Y -0.310212249 28.91705736 0.342292546 34.4 . . CH507-152C13.3 21 6560714 6564489 N . N N . . . . . . CH507-396I9.6 21 7816675 7829926 N . N N . . . . . . CH507-42P11.8 21 6111134 6123739 N . N N . . . . . . CH507-9B2.2 21 5011799 5017145 N . N N . . . . . . CH507-9B2.3 21 5079294 5128425 N . N N . . . . . . CH507-9B2.4 21 5116343 5133805 N . N N . . . . . . CH507-9B2.5 21 5130871 5154734 N . N N . . . . . . CH507-9B2.9 21 5155499 5165472 N . N N . . . . . . CHAC1 15 40952962 40956519 N . N N 0.395225439 75.60340337 0.000276506 68.9 . . CHAC2 2 53767792 53775196 N . N N 0.121288029 58.8122938 0.00282189 60.6 . . CHAD 17 50464496 50468966 N . N Y 0.142034241 60.34033686 0.033702414 49.1 . . CHADL 22 41229510 41240934 N . N N . . 0.080813456 44.4 . . CHAF1B 21 36385378 36419015 N . N N -0.398181691 24.52393355 0.536697059 29 . . CHAMP1 13 114314513 114327328 N . N N -1.078120613 6.829889448 0.985193951 10.9 FTV Mental retardation, autosomal dominant 40, 616579 (3) CHCHD1 10 73782047 73783652 N . N N 0.017051112 50.83058401 0.103831181 42.9 . . CHCHD10 22 23765834 23768443 N . N N 0.456060966 78.59003299 0.000132412 71.1 . Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3); ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3); Spinal muscular atrophy, Jokela type, 615048 (3) CHCHD2 7 56101569 56106576 N . N N 0.209411733 65.03443885 0.00022132 69.5 . . CHCHD4 3 14112077 14124870 N . N N -0.133010364 39.8622446 0.144674863 40.8 . . CHCHD5 2 112584240 112589275 N . N N 0.315412023 71.43022515 0.033641013 49.1 . . CHCHD6 3 126704220 126960406 N . N N 0.720735065 87.46310123 1.08E-08 88.8 . . CHCHD7 8 56211686 56218798 N . N N 0.117461409 58.54604387 0.387975837 33.1 . . CHD1L 1 147242641 147295766 N . N N -0.100478486 42.07327661 1.05E-20 98.8 DM? . CHD2 15 92900189 93028005 Y Viable N Y -2.580205025 0.902934537 0.999999999 0.6 DM Epileptic encephalopathy, childhood-onset, 615369 (3) CHD3 17 7884806 7912760 N . N N -1.78236329 2.251548301 0.999999996 0.7 DM? . CHD5 1 6101793 6180123 N . N Y -2.525577091 0.955026914 0.999999995 0.7 . . CHD6 20 41402101 41618494 N . N Y -2.600540075 0.87978237 1 0.3 DM . CHD9 16 53055033 53329150 N . N N -3.181756997 0.520923771 0.999999929 1.1 . . CHDH 3 53812335 53846390 N . N Y -0.826017495 11.02621983 0.00530866 57.8 DFP . CHEK2 22 28687743 28742422 N Viable N Y 0.356097127 73.757018 1.18E-15 97.2 DM Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3); {Breast cancer, susceptibility to}, 114480 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3); {Breast and colorectal cancer, susceptibility to} (3) CHERP 19 16517889 16542530 N . N N -1.086727969 6.696764485 0.999988396 2.6 . . CHFR 12 132822187 132956304 N . N Y -0.59613365 16.80847369 0.636712517 26.4 DP . CHGB 20 5911430 5925361 N . N Y 0.245465636 67.19916652 3.82E-07 84.1 DFP . CHI3L1 1 203178931 203186749 N . N Y 1.199349099 95.00491984 0.001125812 64.2 DFP {Schizophrenia, susceptibility to}, 181500 (3); {Asthma-related traits, susceptibility to, 7}, 611960 (3) CHI3L2 1 111200771 111243440 N . N N 0.964819248 92.2382358 6.54E-07 83.2 FP . CHIA 1 111290862 111320566 N . N N 1.161982 94.64606124 2.26E-15 97.1 DFP . CHIC1 X 73563200 73687102 N . N N . . 0.684233596 25.1 . . CHID1 11 867860 915058 N . N N -0.347574091 26.90281878 0.000725517 65.8 . . CHIT1 1 203212827 203273641 N . N Y 1.476196155 96.8513052 1.39E-09 90.9 DM . CHKB 22 50578949 50601455 N . N N -0.39546335 24.64548243 0.000644971 66.2 DM Muscular dystrophy, congenital, megaconial type, 602541 (3) CHKB-CPT1B 22 50568869 50582965 N . N N . . . . . . CHL1 3 196596 409417 N . N Y -0.656404047 15.16466979 2.05E-06 81.3 DM . CHML 1 241628853 241635930 N . N N -0.377435075 25.60629739 0.00115778 64.2 . . CHMP1A 16 89644431 89657845 N . N N 0.521823729 81.30462465 0.252036809 37 DM Pontocerebellar hypoplasia, type 8, 614961 (3) CHMP1B 18 11851396 11854449 N . N N 0.028381319 51.66985009 0.682019463 25.1 . . CHMP2A 19 58551566 58555124 N . N N -0.296163317 29.65792672 0.906239123 17.5 . . CHMP2B 3 87227271 87255548 N . N N -0.03259986 47.11466111 0.013080315 53.8 DM Dementia, familial, nonspecific, 600795 (3); Amyotrophic lateral sclerosis 17, 614696 (3) CHMP4A 14 24209583 24213869 N . N N 0.637241741 85.28100943 1.26E-06 82.3 . . CHMP4C 8 81732434 81759515 N Viable N Y 0.332331078 72.43734445 0.00183041 62.2 . . CHMP7 8 23243637 23262000 N . N N -0.112262427 41.3266192 0.980739997 11.6 . . CHN1 2 174799363 175005369 N Viable N Y -0.399291813 24.48341726 0.83742443 20.4 DM Duane retraction syndrome 2, 604356 (3) CHN2 7 29122274 29514328 N . N Y -0.870080871 10.18116571 0.025502324 50.4 . . CHODL 21 17901263 18267373 N . N N -0.211715637 34.80928402 0.001285078 63.7 . . CHP1 15 41230839 41281890 N . N N -0.277483031 30.77501881 0.228123192 37.7 . . CHP2 16 23754627 23758951 N Viable N Y 0.750748847 88.09978584 0.006591256 56.9 . . CHPF 2 219538947 219543787 N . N Y -0.425174275 23.33159692 0.231251266 37.6 . . CHPF2 7 151232489 151238827 N . N N 0.932403889 91.77519245 7.24E-17 97.7 . . CHPT1 12 101696947 101744140 N . N N -0.035318613 46.92365573 0.003570477 59.6 . . CHRAC1 8 140511298 140517137 N . N N 0.298492991 70.40574174 0.658094861 25.8 . . CHRDL1 X 110673856 110795819 N . N N 0.457163544 78.66527754 0.053628494 46.6 DM Megalocornea 1, X-linked 309300 (3) CHRDL2 11 74696429 74731385 N . N N -0.248121003 32.57509984 2.14E-05 76 . . CHRFAM7A 15 30357766 30393849 N . N N . . . . DFP . CHRM1 11 62908679 62921807 N . N Y -0.670362473 14.74214273 0.931378497 16.1 FP . CHRM2 7 136868669 137020255 N . N Y -0.171329534 37.29814204 0.005870594 57.3 DM . CHRM3 1 239386565 239915452 N . N Y -0.216195302 34.51409388 0.937026128 15.8 DM ?Prune belly syndrome, 100100 (3) CHRM4 11 46385098 46386608 N . N Y -0.55398566 18.10499508 0.916843942 16.9 . . CHRM5 15 33968720 34067457 N . N Y -0.378543229 25.54262893 0.003831972 59.2 . . CHRNA10 11 3665587 3671384 N . N Y 1.096208714 93.89940383 1.04E-05 78 . . CHRNA2 8 27459762 27479883 N . N Y -1.015367919 7.680731608 0.001766479 62.4 DM Epilepsy, nocturnal frontal lobe, type 4, 610353 (3) CHRNA5 15 78565520 78595269 N . N Y 0.165499977 62.20408636 2.41E-06 80.9 DFP {Lung cancer susceptibility 2}, 612052 (3); {Nicotine dependence, susceptibility to}, 612052 (3) CHRNA6 8 42752620 42796392 N . N Y -0.392592402 24.83069977 2.04E-06 81.3 . . CHRNA7 15 32030488 32172521 Y Viable N Y 0.390591665 75.41239799 . . DM Schizophrenia, neurophysiologic defect in (2) CHRNA9 4 40335329 40355217 N . N Y 0.952682416 92.05880651 0.000411144 67.6 FP . CHRNB1 17 7445061 7457707 N . N N -0.026707188 47.49667188 4.34E-06 79.8 DM Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3); ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3) CHRNB3 8 42697376 42737407 N . N Y 0.212431469 65.21965619 0.000131863 71.1 DM? . CHRNB4 15 78624119 78727754 N . N Y 0.706026988 87.04636222 0.018626609 52 DFP . CHRND 2 232525993 232536667 N . N N 0.574644112 83.23783064 7.26E-07 83.1 DM ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3); Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3); ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3); Multiple pterygium syndrome, lethal type, 253290 (3) CHRNE 17 4897774 4903074 N . N Y -0.856836351 10.44741564 0.0003479 68.2 DM Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3); Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3); Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3) CHST1 11 45648877 45665622 N . N Y -0.662859235 14.96208833 0.820990319 21 . . CHST10 2 100391860 100417656 N . N Y 0.239573531 66.85188401 0.003303063 59.9 . . CHST12 7 2403560 2448483 N . N N -0.0163338 48.1912369 0.000240663 69.2 . . CHST13 3 126524283 126543291 N . N N . . 0.000159792 70.5 . . CHST15 10 124007666 124093607 N . N Y -0.120418693 40.70151068 0.17782212 39.4 . . CHST2 3 143119331 143124014 N . N Y 0.056630995 53.83457776 0.123805841 41.9 . . CHST3 10 71964365 72013564 N . N Y -0.240770687 32.9976269 0.165928594 39.9 DM Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3) CHST4 16 71525233 71538746 N . N Y 0.060458083 54.14713203 5.59E-09 89.5 . . CHST5 16 75528535 75535247 N . N Y -0.155214561 38.38050587 0.005380225 57.8 . . CHST7 X 46573784 46598408 N . N N . . 0.098519353 43.2 . . CHST8 19 33621955 33773509 N Viable N Y -0.467623231 21.54888001 0.004222016 58.9 DM ?Peeling skin syndrome 3, 616265 (3) CHST9 18 26906481 27185317 N . N N 0.097016249 56.90223997 5.84E-07 83.5 . . CHSY1 15 101175723 101251932 N . N Y -0.723539465 13.31828442 0.913667234 17.1 DM Temtamy preaxial brachydactyly syndrome, 605282 (3) CHSY3 5 129904472 130186634 N . N N -0.672928946 14.6958384 0.011861287 54.2 . . CHTF8 16 69118010 69132584 N . N N -0.0579797 45.26827574 0.275816999 36.3 . . CHURC1 14 64914361 64944591 N . N N 0.080902701 55.81408809 3.13E-05 75.1 . . CHURC1-FNTB 14 64914485 65061803 N . N N . . . . . . CIAO1 2 96266132 96273349 N . N N 0.328653775 72.25212711 0.01471613 53.2 DM? . CIART 1 150282543 150287093 N . N Y . . . . . . CIB1 15 90229975 90234047 N . N Y 0.217871355 65.53221045 0.016102965 52.8 . . CIB2 15 78104606 78131544 N Viable N Y 0.006828994 50.02025815 0.000468493 67.2 DM Deafness, autosomal recessive 48, 609439 (3); Usher syndrome, type IJ, 614869 (3) CIB3 19 16161368 16173525 N . N N -0.008177066 48.7989813 4.43E-07 83.9 . . CIB4 2 26581202 26641368 N . N N 0.179399332 63.14753719 2.30E-06 81 . . CIDEA 18 12254319 12277595 N . N Y 0.389635172 75.36030561 0.014628439 53.3 DP . CIDEB 14 24305096 24311430 N . N Y 0.363300057 74.07536031 1.52E-11 94.1 . . CIDEC 3 9866711 9880254 N . N Y 0.561252451 82.78636337 0.001416632 63.3 DM ?Lipodystrophy, familial partial, type 5, 615238 (3) CIITA 16 10877198 10932281 N . N Y -0.565402387 17.76350061 5.54E-05 73.6 DM . CILP 15 65194758 65211488 N . N N -0.328151058 27.79996527 1.40E-19 98.6 DP {Lumbar disc disease, susceptibility to}, 603932 (3) CILP2 19 19538248 19546659 N . N N -0.80102047 11.55293164 0.000278936 68.9 . . CIPC 14 77098097 77117287 N . N N . . . . . . CIRBP 19 1259384 1274880 N . N Y -0.199580796 35.52700122 0.622585655 26.9 . . CIRH1A 16 69131291 69231130 N . N N -0.72449582 13.27776813 0.094027705 43.5 DM Cirrhosis, North American Indian childhood type, 604901 (3) CISD1 10 58269058 58289586 N . N N 0.053609874 53.60305609 0.464700956 31 . . CISD2 4 102868978 102889242 N . N Y -0.09740902 42.25270591 0.649111069 26 DM Wolfram syndrome 2, 604928 (3) CISD3 17 38730235 38735044 N . N N . . . . . . CISH 3 50606490 50611831 N . N Y 0.054717474 53.7014528 0.001444258 63.2 DFP {Tuberculosis, susceptibility to}, 607948 (3); {Malaria, susceptibility to}, 611162 (3); {Bacteremia, susceptibility to}, 614383 (3) CITED4 1 40861051 40862366 N Viable N Y . . 0.358265029 34 . . CIZ1 9 128166064 128204383 N . N N 0.079442861 55.64623488 0.993095776 9.1 DM . CKAP2 13 52455429 52476628 N . N N 0.427452644 77.24720727 3.96E-08 87.3 . . CKAP2L 2 112736607 112764677 N . N N 0.761421735 88.33709556 0.218393604 38.1 . Filippi syndrome, 272440 (3) CKB 14 103519659 103523111 N . N Y 0.038754674 52.485964 0.850845461 19.9 FP . CKLF 16 66552563 66566251 N . N N -0.10204113 42.00382011 0.027093108 50.2 . . CKLF-CMTM1 16 66552563 66579135 N . N N 0.208455225 64.9591943 0.008028449 55.9 . . CKM 19 45306414 45322977 N . N Y -0.25849473 31.97314349 0.005050586 58.1 DM . CKMT1A 15 43692886 43699222 N . N N . . 0.014121793 53.5 . . CKMT1B 15 43593054 43604901 N . N Y . . 0.073210647 44.8 . . CKMT2 5 81233285 81266397 N . N Y -1.05208042 7.182960005 7.87E-10 91.3 . . CKS1B 1 154974653 154979249 N . N Y 0.030143764 51.8087631 0.723280936 24 . . CKS2 9 89311198 89316703 N . N Y 0.030143764 51.8087631 0.383050487 33.2 . . CLASP1 2 121337776 121649587 N . N N . . 0.999999989 0.8 . . CLASP2 3 33496245 33718356 N . N Y . . 0.99994836 3.3 . . CLASRP 19 45039040 45070956 N . N N -0.650570088 15.3730393 0.964966482 13.5 . . CLC 19 39731250 39738028 N . N N 0.594944888 83.97870001 3.42E-05 74.9 . . CLCA1 1 86468368 86500289 N . N Y -0.547948419 18.29600046 6.08E-06 79.2 DP . CLCA2 1 86424086 86456558 N . N Y -0.167049899 37.59333218 1.91E-20 98.8 DP . CLCA4 1 86547078 86580754 N . N N -0.687788994 14.27331134 3.19E-09 90.1 . . CLCC1 1 108929508 108963457 N . N N 0.153364212 61.26642357 0.026710088 50.3 . . CLCN1 7 143316126 143352083 N . N N -0.015074272 48.25490537 6.82E-13 95.4 DM Myotonia congenita, recessive, 255700 (3); Myotonia congenita, dominant, 160800 (3); Myotonia levior, recessive (3) CLCN2 3 184346185 184361651 N . N Y -0.378095669 25.54841697 2.27E-07 85 DM {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3); {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3); {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3); Leukoencephalopathy with ataxia, 615651 (3) CLCN4 X 10156945 10237660 N . N N -0.562445944 17.85610928 0.98878792 10.2 DM . CLCN5 X 49922615 50099235 N . N Y -0.016485314 48.17966082 0.994241666 8.8 DM Dent disease, 300009 (3); Nephrolithiasis, type I, 310468 (3); Hypophosphatemic rickets, 300554 (3); Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3) CLCN6 1 11806096 11843144 N . N Y -1.572450602 2.951901372 0.163974191 40 DM? . CLCNKA 1 16018875 16034050 N . N Y 0.774670312 88.64964982 2.75E-14 96.5 DM Bartter syndrome, type 4b, digenic, 613090 (3) CLCNKB 1 16043736 16057308 N . N N 0.886424446 90.86646987 7.81E-12 94.4 DM Bartter syndrome, type 3, 607364 (3); Bartter syndrome, type 4b, digenic, 613090 (3) CLDN10 13 95433604 95579759 N . N N -0.029729296 47.29987845 0.045930413 47.5 . . CLDN11 3 170418865 170860380 N . N Y -0.140513426 39.38183712 0.328912245 34.9 . . CLDN12 7 90383721 90513402 N . N N -0.328090038 27.8173294 0.100921397 43.1 . . CLDN14 21 36460621 36576569 N . N Y -0.240770687 32.9976269 0.000330687 68.4 DM Deafness, autosomal recessive 29, 614035 (3) CLDN15 7 101232092 101238820 N . N Y -0.01663693 48.16808474 0.889708635 18.2 . . CLDN16 3 190322541 190412143 N . N Y 0.133574517 59.72680442 0.033386903 49.2 DM Hypomagnesemia 3, renal, 248250 (3) CLDN17 21 30165564 30166756 N . N N 0.820192266 89.52364415 0.000147442 70.7 . . CLDN18 3 137998735 138033655 N Viable N Y -0.337353053 27.42374255 0.012644934 54 . . CLDN19 1 42733093 42740254 N Viable N Y 0.162480005 61.94941251 0.175565901 39.5 DM Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) CLDN2 X 106900164 106930861 N . N Y 0.321002544 71.81802396 0.605106672 27.3 . . CLDN20 6 155264013 155276548 N . N N 0.470257259 79.32511431 0.000765369 65.6 . . CLDN22 4 183318194 183320774 N . N N 0.257299872 67.86479134 0.000437371 67.4 . . CLDN23 8 8701938 8704106 N . N N -0.088796495 42.91254269 2.47E-05 75.7 . . CLDN24 4 183321764 183322426 N . N N 0.473935719 79.48717949 0.000259988 69.1 . . CLDN25 11 113779747 113780500 N . N N -0.257690928 32.05996411 2.36E-09 90.4 . . CLDN3 7 73768997 73770270 N . N N 0.26384649 68.31047057 0.67853732 25.2 . . CLDN34 X 9967358 9968352 N . N N . . . . . . CLDN4 7 73799542 73832693 N . N Y -0.013766433 48.44591075 0.000137158 70.9 . . CLDN6 16 3014712 3020071 N . N Y 0.146667159 60.78022805 0.010429515 54.8 . . CLDN8 21 30214006 30216073 N . N N 0.311734573 71.17555131 0.057634377 46.2 . . CLDN9 16 3012456 3014505 N . N N -0.221936642 34.22469179 0.059927003 46 . . CLDND1 3 98497912 98523066 N . N N -0.12072238 40.65520634 0.590515429 27.7 . . CLDND2 19 51367098 51369003 N . N N 0.938338578 91.83886091 3.87E-05 74.6 . . CLEC10A 17 7074537 7080307 N Viable N Y 1.06508939 93.5636974 4.25E-08 87.2 . . CLEC11A 19 50723329 50725718 N . N N 0.30327499 70.71250796 0.002266726 61.5 DP . CLEC12A 12 9951316 9995694 N . N N 0.46275405 78.96625572 6.28E-06 79.1 . . CLEC12B 12 10010627 10018619 N . N N 0.521823729 81.30462465 0.000124716 71.2 . . CLEC14A 14 38254103 38256369 N . N N 0.022943191 51.29941541 0.000668541 66.2 . . CLEC17A 19 14583084 14611157 N . N N 0.494679511 80.27435319 0.002618856 60.9 . . CLEC18A 16 69950705 69964452 N . N N . . 0.144113695 40.8 . . CLEC18B 16 74408270 74421953 N . N N 2.890383758 99.45592406 . . . . CLEC18C 16 70173322 70187361 N . N N . . 0.876992462 18.8 . . CLEC19A 16 19285739 19322145 N . N N . . . . . . CLEC1A 12 10069554 10111627 N . N N -0.065330609 44.75314001 2.08E-10 92.4 . . CLEC2A 12 9898673 9932381 N . N N . . . . . . CLEC2B 12 9852984 9870136 N . N N 0.237511303 66.66087862 0.002731955 60.8 . . CLEC2D 12 9664969 9699555 N . N N 0.505861042 80.68530416 0.767944822 22.7 DP . CLEC2L 7 139523856 139544984 N . N N 0.457973076 78.70579383 0.01759438 52.3 . . CLEC3A 16 78022515 78066761 N . N N -0.018398956 48.03495977 5.32E-07 83.6 . . CLEC3B 3 45001548 45036071 N . N Y -0.139556392 39.44550559 0.00038011 67.9 . . CLEC4A 12 8123632 8138607 N . N Y 0.400815894 75.88122938 7.44E-07 83.1 . . CLEC4C 12 7729415 7751605 N . N N 0.247883787 67.32650344 0.000999349 64.7 . . CLEC4D 12 8509475 8522366 N . N Y 0.288268772 69.80378538 0.000109415 71.6 . . CLEC4E 12 8533305 8540963 N . N Y 0.218827885 65.61903108 0.003558028 59.6 . . CLEC4F 2 70808643 70820600 N . N Y 1.99418963 98.56456561 4.19E-12 94.7 . . CLEC4G 19 7728957 7733906 N . N Y -0.044735327 46.24066678 0.001122767 64.3 . . CLEC4M 19 7763149 7769605 N . N N 0.72838545 87.5557099 3.09E-05 75.2 DFP SARS infection, protection against (2) CLEC5A 7 141927357 141947007 N . N Y 0.163436574 62.02465706 0.238602268 37.4 . . CLEC6A 12 8455926 8478330 N . N Y 0.362343698 74.02326793 1.79E-06 81.5 . . CLEC7A 12 10116777 10130258 N . N N 0.386765898 75.22718064 7.99E-08 86.4 DFP Candidiasis, familial, 4, autosomal recessive, 613108 (3); {Aspergillosis, susceptibility to}, 614079 (3) CLEC9A 12 10030677 10066027 N . N Y 0.075313076 55.32210453 2.45E-05 75.7 . . CLECL1 12 9715860 9733299 N . N N 0.633417736 85.14788447 1.65E-06 81.7 . . CLGN 4 140388455 140427968 N . N Y -0.110196686 41.44816808 2.85E-07 84.6 . . CLHC1 2 55174791 55232563 N . N N 0.531539113 81.72136366 4.15E-15 96.9 FTV . CLIC1 6 31730581 31739763 N . N Y 0.300405715 70.5388667 0.012456213 54 . . CLIC2 X 155276211 155334657 N . N N 0.487986222 79.98495109 0.493262624 30.2 DM ?Mental retardation, X-linked, syndromic 32, 300886 (3) CLIC3 9 136994635 136996803 N . N N 0.466432451 79.14568501 0.000387773 67.9 . . CLIC4 1 24745357 24844324 N . N Y -0.38061162 25.41529201 0.009462004 55.2 . . CLIC5 6 45898451 46080395 N . N N 0.828651821 89.73201366 0.001876851 62.1 . ?Deafness, autosomal recessive 103, 616042 (3) CLIC6 21 34669389 34718227 N . N N . . 0.000535224 66.8 . . CLINT1 5 157785743 157859175 N . N N -0.368169446 25.94779186 0.800888476 21.6 . . CLIP1 12 122271432 122422632 N . N Y -0.64998985 15.38461538 0.968496014 13.2 . . CLIP2 7 74289475 74405943 N . N Y -0.338667074 27.31376975 0.999881647 3.9 . . CLIP4 2 29097705 29189643 N . N N -0.710445546 13.61347456 0.000288888 68.8 . . CLK1 2 200853009 200864744 N . N Y -1.069002279 6.922498119 0.095347455 43.5 . . CLK2 1 155262868 155278491 N . N N -0.23502878 33.3564855 0.999952949 3.2 DM . CLK3 15 74598500 74645414 N . N N -0.742523485 12.81472478 0.928146533 16.2 . . CLK4 5 178602664 178630615 N . N N -0.071876736 44.2958847 0.449835921 31.4 . . CLLU1 12 92421531 92431002 N . N N . . 0.041368284 48.1 . . CLLU1OS 12 92420094 92428148 N . N N 0.229051722 66.16310702 0.05273188 46.7 . . CLMN 14 95181940 95319906 N Viable N Y 0.390248931 75.37766973 2.06E-07 85.1 . . CLMP 11 123069865 123195281 N . N N -0.419886724 23.51681426 3.02E-05 75.2 DM Congenital short bowel syndrome, 615237 (3) CLN3 16 28477279 28495575 N . N Y -0.526691349 19.14105458 9.99E-07 82.5 DM Ceroid lipofuscinosis, neuronal, 3, 204200 (3) CLN5 13 76990660 77002517 N . N Y 0.406554426 76.19378364 5.08E-06 79.5 DM Ceroid lipofuscinosis, neuronal, 5, 256731 (3) CLN6 15 68206992 68257211 N Viable N Y 0.352119595 73.52549632 0.381706051 33.3 DM Ceroid lipofuscinosis, neuronal, 6, 601780 (3); Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3) CLN8 8 1755778 1786572 N . N N 0.445983156 78.16171789 0.000747073 65.7 DM Ceroid lipofuscinosis, neuronal, 8, 600143 (3); Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3) CLNK 4 10486395 10684865 N . N Y 0.340939791 72.94090409 1.35E-20 98.8 DP . CLOCK 4 55427903 55547138 N . N Y -0.60635615 16.57695202 0.998479651 6.6 DM? . CLPB 11 72292425 72434680 N . N N 0.845873512 90.12560051 9.13E-06 78.3 . 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) CLPSL1 6 35781017 35793675 N . N N 0.542421446 82.15546681 0.001648465 62.7 . . CLPSL2 6 35776594 35779552 N . N N . . 0.146625367 40.7 . . CLPTM1 19 44954585 44993341 N . N N -0.272392294 31.15124153 0.980483077 11.7 DM . CLPTM1L 5 1317744 1345099 N . N N -0.381261924 25.37477571 0.311319339 35.4 DM . CLPX 15 65148219 65185342 N . N N -0.371997156 25.78572669 0.766826744 22.7 . . CLRN1 3 150926163 150972999 N Viable N Y -0.407752108 24.03194999 0.000915822 65.1 DM Usher syndrome, type 3A, 276902 (3); Retinitis pigmentosa 61, 614180 (3) CLRN2 4 17515165 17527104 N . N N 0.449660369 78.35272327 0.00028945 68.8 . . CLRN3 10 127877841 127892947 N . N N 0.410231756 76.34427273 0.140040446 41.1 . . CLSTN1 1 9729026 9824526 N Viable N Y -1.358372311 4.231058633 0.84421445 20.1 . . CLSTN2 3 139935185 140577397 N . N N -0.142627384 39.20819587 4.54E-05 74.2 DP . CLSTN3 12 7129698 7158945 N Viable N Y -0.882880944 9.909127742 0.997857932 7 . . CLTA 9 36190856 36304781 N . N N -0.237096056 33.23493662 0.961296504 13.8 . . CLTB 5 176392455 176416569 N . N N -0.304623579 29.21803554 0.11549246 42.3 . . CLTC 17 59619689 59696956 N . N N -2.059614657 1.516466979 0.999999993 0.7 . . CLTCL1 22 19179473 19291716 N . N N 2.655912858 99.26491868 1.24E-26 99.5 DM . CLU 8 27596917 27615031 N Viable N Y 0.21434495 65.31226486 0.453463613 31.3 DM . CLUH 17 2689386 2712663 N . N N -1.655717436 2.639347109 0.99970183 4.6 . . CLUL1 18 596988 650334 N . N N -0.032448102 47.13781328 3.21E-06 80.4 DP . CLVS1 8 61057158 61501645 N Viable N Y -0.566274989 17.74613648 0.853643445 19.7 . . CLVS2 6 122995971 123072927 N . N N -0.257690928 32.05996411 0.125512834 41.8 . . CLYBL 13 99606669 99897134 N . N N 0.132617807 59.62261967 8.32E-06 78.5 DP . CMA1 14 24505353 24508265 N . N Y 0.968497077 92.30190427 4.11E-08 87.3 DP . CMAS 12 22046174 22065674 N . N N -0.144188409 39.10979915 0.472364311 30.8 . . CMBL 5 10275875 10308026 N . N N 0.274219089 68.94136714 0.007765304 56.1 . . CMC1 3 28241584 28325142 N . N N 0.236554885 66.60299821 0.001441886 63.2 . Sturge-Weber syndrome, somatic, mosaic, 185300 (3); Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3) CMC2 16 80966448 81020270 N . N N 0.275027119 68.98767147 0.00149211 63 . . CMC4 X 155061622 155071362 N . N N 0.394122531 75.52815882 0.164577984 40 . . CMKLR1 12 108288044 108339341 N . N Y 0.21706442 65.48590612 0.068526963 45.2 . . CMPK1 1 47333797 47378839 N . N N 0.266567586 68.44359553 0.31927351 35.2 FP . CMPK2 2 6840570 6866635 N . N N . . 0.001807965 62.3 . . CMSS1 3 99817834 100178603 N . N N 0.600681311 84.1291891 0.000665485 66.2 . . CMTM1 16 66566393 66579137 N . N N -0.086882719 43.06881982 0.001297531 63.7 . . CMTM2 16 66579448 66588275 N . N N 0.083772833 56.01666956 2.07E-05 76.1 . . CMTM3 16 66603874 66613892 N . N N 0.025510984 51.4499045 0.107243309 42.7 . . CMTM4 16 66614750 66696707 N . N N 0.169983117 62.51085258 0.039383463 48.4 . . CMTM5 14 23376808 23379772 N . N N 0.225374457 65.97210164 0.060087642 46 . . CMTM6 3 32481312 32503408 N . N Y 0.153063769 61.21433119 0.822756767 20.9 . . CMTM7 3 32391671 32483067 N . N N 0.139014096 60.0972391 0.426220205 32.1 . . CMTM8 3 32238679 32370325 N . N N 0.193448992 64.03889564 0.847881588 20 . . CMTR1 6 37433219 37482827 N . N N -1.357827396 4.236846675 0.999294924 5.5 . . CMTR2 16 71281389 71289715 N . N N -0.221634091 34.24205591 1.42E-07 85.7 . . CMYA5 5 79689877 79800240 N . N N 6.15294775 99.90160329 3.81E-43 100 . . CNBD1 8 86866442 87615219 N Viable N Y 1.149543986 94.51293627 2.82E-10 92.2 . . CNBD2 20 35954564 36030700 N . N Y 1.227602136 95.28274585 2.29E-07 85 . . CNDP1 18 74534440 74587212 N . N N 0.257600888 67.89373155 1.91E-05 76.4 DP . CNDP2 18 74495816 74523454 N . N N -0.214281688 34.66458297 0.001191008 64 DM? . CNEP1R1 16 50024410 50037088 N . N N 0.197126183 64.20674886 0.291176145 35.9 . . CNFN 19 42387019 42390287 N . N N 0.395078624 75.58603924 0.347229317 34.3 . . CNGA1 4 47935977 48016672 N . N N -0.28085205 30.59558951 5.71E-10 91.6 DM Retinitis pigmentosa 49, 613756 (3) CNGA3 2 98346155 98398601 N . N Y 0.796222621 89.1300573 1.18E-08 88.7 DM Achromatopsia-2, 216900 (3) CNGA4 11 6234765 6244429 N . N Y 0.736040148 87.76986745 9.86E-05 71.9 . . CNGB3 8 86553977 86743675 N . N Y 0.769082647 88.54546507 8.86E-11 93 DM Achromatopsia-3, 262300 (3); Macular degeneration, juvenile, 248200 (3) CNIH1 14 54423560 54441431 N . N N 0.097672002 56.94854431 0.84399372 20.1 . . CNIH2 11 66278190 66285301 N . N Y -0.007371823 48.85686172 0.894540207 18 . . CNIH3 1 224434660 224740549 N . N N 0.115548149 58.40713087 0.381818439 33.3 . . CNIH4 1 224356850 224379459 N . N N 0.563975498 82.86739596 0.08472499 44.1 . . CNKSR1 1 26177403 26189886 N . N N 0.602896139 84.20443364 3.79E-16 97.5 DM . CNKSR2 X 21374418 21654695 N . N N -0.606507878 16.56537593 0.999748049 4.5 DM . CNKSR3 6 154159828 154510659 N . N N -0.654245712 15.2341263 0.211063418 38.4 . . CNN2 19 1026581 1039068 N . N Y 0.235897236 66.56248191 0.212309401 38.4 DM? . CNN3 1 94896949 94927278 N . N N -0.10204113 42.00382011 0.864370513 19.3 . . CNNM1 10 99329099 99394330 N . N N -0.458206381 21.95404295 0.906070593 17.5 . . CNNM2 10 102918293 103090221 N . N N -0.830649701 10.97412745 0.994106431 8.8 DM Hypomagnesemia 6, renal, 613882 (3); Hypomagnesemia, seizures, and mental retardation, 616418 (3) CNNM3 2 96816245 96833911 N . N N -0.156171384 38.30526133 . . . . CNNM4 2 96760902 96811891 N . N Y -1.432870149 3.76801528 0.000338909 68.3 DM Jalili syndrome, 217080 (3) CNOT1 16 58519951 58629886 N . N N -3.380915515 0.434103143 1 0.3 . . CNOT10 3 32685145 32773875 N . N N -1.109239253 6.447878683 0.999834446 4.2 . . CNOT11 2 101252802 101270316 N . N N 0.183225703 63.41957516 0.993507645 9 . . CNOT2 12 70242994 70354993 N . N N -0.477194633 21.11477687 0.999868597 4 . . CNOT4 7 135361795 135510127 N . N N -0.527648223 19.09475025 0.996013725 8 DM? . CNOT6L 4 77713387 77819615 N . N N -0.12631151 40.31371187 0.954497484 14.4 . . CNOT7 8 17224964 17246878 N . N Y -0.169568594 37.41390288 0.986495484 10.7 . . CNOT8 5 154857553 154876793 N . N N -0.109544183 41.48289634 0.675125645 25.3 . . CNP 17 41966741 41977731 N . N Y -0.320432866 28.29194883 0.890888252 18.2 . . CNPPD1 2 219171897 219178106 N . N N 0.493871825 80.23962493 1.63E-05 76.8 . . CNPY1 7 155474206 155533862 N . N N 0.259064403 67.99212826 0.008745655 55.4 . . CNPY2 12 56309842 56316336 N . N N 0.003958565 49.8061006 0.030095347 49.6 . . CNPY4 7 100119613 100125511 N . N Y 0.17476603 62.85234705 3.68E-09 89.9 . . CNR2 1 23870526 23913362 N . N Y -0.138446759 39.5439023 0.000110726 71.5 DFP . CNRIP1 2 68284171 68320051 N . N N 0.206542259 64.76240088 0.299559965 35.7 . . CNST 1 246566444 246668584 N . N N 0.072896737 55.12531111 0.925062822 16.4 . . CNTD1 17 42798792 42811587 N . N N 0.404641438 76.06644672 0.021834511 51.2 . . CNTD2 19 40222208 40226690 N . N N . . 0.114056189 42.4 . . CNTF 11 58622673 58625733 N . N Y 0.644745092 85.49516699 0.000349252 68.2 DFP . CNTLN 9 17134982 17503923 N . N N 0.565237919 82.88476009 . . . . CNTN2 1 205043197 205078499 N . N Y 0.144404569 60.54291833 0.129621135 41.6 DM ?Epilepsy, myoclonic, familial adult, 5, 615400 (3) CNTN3 3 74262568 74521140 N . N N 0.346030702 73.18978989 0.014141786 53.5 . . CNTN4 3 2098813 3057956 N . N Y -0.589145487 17.09208775 0.996606388 7.7 DM . CNTN5 11 99020953 100358885 N . N Y 0.182074686 63.33854257 0.001354061 63.5 . . CNTN6 3 1092576 1404217 N . N Y -0.874151312 10.09434508 3.59E-22 99 . . CNTNAP1 17 42682613 42699814 Y Viable N Y -2.855175346 0.665624819 0.004108758 59 . Lethal congenital contracture syndrome 7, 616286 (3) CNTNAP2 7 146116002 148420998 N . N Y -0.07847643 43.76917289 3.83E-05 74.6 DM Cortical dysplasia-focal epilepsy syndrome, 610042 (3); {Autism susceptibility 15}, 612100 (3); Pitt-Hopkins like syndrome 1, 610042 (3) CNTNAP3 9 39072767 39288315 N . N N . . 0.072566366 44.9 . . CNTNAP3B 9 41890314 42129510 N . N N . . . . . . CNTNAP4 16 76277278 76559238 N . N Y -0.03169225 47.14938936 2.34E-05 75.8 DM? . CNTNAP5 2 124025287 124915287 N . N N -1.178138133 5.828558199 0.097272924 43.3 DM? . CNTRL 9 121074863 121177610 N . N N -0.999367083 7.871736991 4.17E-35 99.8 . . CNTROB 17 7932101 7949918 N . N N 0.470868486 79.3366904 1.24E-11 94.1 DM . COA1 7 43608456 43729717 N . N N 0.427960039 77.28193552 0.038462532 48.5 . . COA3 17 42795147 42798704 N . N N -0.050476626 45.73710714 0.004708378 58.4 . . COA4 11 73872667 73876988 N . N N 0.449513717 78.32957111 0.000586606 66.5 . . COA6 1 234373456 234384049 N . N N 0.154020328 61.30693986 0.08854731 43.9 . Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3) COA7 1 52684451 52698366 N . N N . . . . . . COASY 17 42561467 42566277 N . N N -0.664469158 14.90420791 1.05E-07 86.1 . Neurodegeneration with brain iron accumulation 6, 615643 (3) COBL 7 51016212 51316818 N . N N 0.846540302 90.14875268 0.982698637 11.3 . . COBLL1 2 164653624 164843679 N . N N -0.284231863 30.38722 0.012197364 54.1 DP . COCH 14 30874514 30895065 N . N Y 0.282828845 69.49123112 0.000262849 69 DM Deafness, autosomal dominant 9, 601369 (3) COG1 17 73192632 73208507 N . N N 0.01589496 50.68009492 0.102527996 42.9 DM Congenital disorder of glycosylation, type IIg, 611209 (3) COG4 16 70480568 70523565 N . N N -0.339770436 27.26167737 4.39E-06 79.8 DM Congenital disorder of glycosylation, type IIj, 613489 (3) COG5 7 107201555 107564514 N . N N -0.019858235 47.90762285 1.14E-11 94.2 DM Congenital disorder of glycosylation, type IIi, 613612 (3) COG6 13 39655627 39791665 N . N N -0.483435313 20.83695086 6.72E-10 91.4 DM Congenital disorder of glycosylation, type IIl, 614576 (3); Shaheen syndrome, 615328 (3) COG7 16 23388493 23453180 N . N N -0.350142939 26.7812699 1.29E-06 82.2 DM Congenital disorder of glycosylation, type IIe, 608779 (3) COG8 16 69320140 69339667 N . N N -0.543460696 18.45806564 1.87E-05 76.4 DM Congenital disorder of glycosylation, type IIh, 611182 (3) COIL 17 56938187 56961054 N . N Y -0.092320323 42.68102101 0.015600234 53 . . COL11A2 6 33162681 33192499 N . N Y -0.636756378 15.74926202 0.999999325 1.6 DM Stickler syndrome, type III, 184840 (3); Otospondylomegaepiphyseal dysplasia, 215150 (3); Weissenbacher-Zweymuller syndrome, 277610 (3); Deafness, autosomal dominant 13, 601868 (3); Deafness, autosomal recessive 53, 609706 (3); Fibrochondrogenesis 2, 614524 (3) COL13A1 10 69801931 69964275 N . N Y -0.165436653 37.69172889 0.003928968 59.1 . . COL14A1 8 120059780 120372036 N Viable N Y -0.479859725 20.99322799 0.001367918 63.5 DM . COL15A1 9 98943179 99070792 N . N Y 1.420885533 96.49244661 3.68E-06 80.1 . . COL16A1 1 31652247 31704319 N . N N -0.200301498 35.47490884 3.38E-15 97 . . COL18A1 21 45405137 45513720 N Viable N Y 0.570035795 83.05840134 1.24E-05 77.5 DM Knobloch syndrome, type 1, 267750 (3) COL1A2 7 94394561 94431232 Y Viable N Y -0.356396786 26.49765584 0.999754944 4.5 DM Ehlers-Danlos syndrome, type VIIB, 130060 (3); Osteogenesis imperfecta, type IV, 166220 (3); Osteogenesis imperfecta, type III, 259420 (3); Osteogenesis imperfecta, type II, 166210 (3); {Osteoporosis, postmenopausal}, 166710 (3); Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3) COL20A1 20 63293186 63334851 N . N N 1.124962592 94.2408983 1.27E-24 99.3 . . COL21A1 6 56056590 56394094 N . N N -0.098715546 42.17746136 1.15E-20 98.8 . . COL22A1 8 138588235 138914006 N . N N 1.511147515 97.01915842 8.26E-32 99.7 . . COL23A1 5 178237618 178590555 N . N N 0.311884256 71.19291544 9.57E-10 91.2 . . COL24A1 1 85729233 86156943 N Viable N Y -0.379441387 25.49053655 1.06E-25 99.4 . . COL25A1 4 108810721 109302657 N . N N -0.953425857 8.682062858 7.12E-08 86.5 FTV Fibrosis of extraocular muscles, congenital, 5, 616219 (3) COL26A1 7 101362820 101559024 N . N N 0.590456673 83.84557504 0.000191086 70 . . COL28A1 7 7356203 7535853 N . N N 0.680329144 86.40967761 1.89E-20 98.8 . . COL4A3 2 227164565 227314792 N Viable N Y -0.181760636 36.59200093 7.58E-05 72.7 DM Alport syndrome, autosomal recessive, 203780 (3); Hematuria, benign familial, 141200 (3); Alport syndrome, autosomal dominant, 104200 (3) COL4A4 2 227002711 227164113 N . N N -1.19196533 5.666493025 1.69E-08 88.3 DM Alport syndrome, autosomal recessive, 203780 (3); Hematuria, familial benign (3) COL4A5 X 108439844 108697545 N . N Y 0.315061037 71.38970886 0.999918348 3.6 DM Alport syndrome, 301050 (3) COL4A6 X 108155607 108439497 N . N Y 1.081685319 93.76049083 0.990988266 9.7 DM ?Deafness, X-linked 6, 300914 (3) COL5A3 19 9959561 10010471 N . N Y -0.231130271 33.66325172 7.12E-07 83.1 . . COL6A1 21 45981737 46005050 N . N Y 0.782500809 88.84065521 0.999994535 2.3 DM Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3) COL6A2 21 46098097 46132849 N Viable N Y 0.696821712 86.84378075 0.002133757 61.6 DM Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); ?Myosclerosis, congenital, 255600 (3) COL6A3 2 237324003 237414375 N . N N 0.927038847 91.64206749 7.79E-11 93.1 DM Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); Dystonia 27, 616411 (3) COL6A5 3 130345516 130484844 N . N N . . 9.56E-12 94.3 DP . COL6A6 3 130560334 130678155 N . N N 1.611094495 97.54587023 3.59E-45 100 . . COL8A1 3 99638475 99799226 N . N Y -0.856836351 10.44741564 0.038167365 48.6 . . COL8A2 1 36095236 36125220 N . N Y -0.233114996 33.52433872 0.699343493 24.6 DM Corneal dystrophy, Fuchs endothelial, 1, 136800 (3); Corneal dystrophy, posterior polymorphous 2, 609140 (3) COL9A1 6 70215061 70303083 N . N Y -0.460631969 21.8787984 4.77E-15 96.9 DM ?Epiphyseal dysplasia, multiple, 6, 614135 (3); Stickler syndrome, type IV, 614134 (3) COL9A2 1 40300487 40317816 N Viable N Y 1.118720025 94.16565376 0.182801206 39.2 DM Epiphyseal dysplasia, multiple, 2, 600204 (3); {Intervertebral disc disease, susceptibility to}, 603932 (3); ?Stickler syndrome, type V, 614284 (3) COL9A3 20 62816244 62841159 N . N N 1.198702313 94.99913179 3.25E-05 75 DM Epiphyseal dysplasia, multiple, 3, 600969 (3); Epiphyseal dysplasia, multiple, with myopathy (3); {Intervertebral disc disease, susceptibility to}, 603932 (3) COLCA2 11 111298546 111308735 N Viable N Y . . . . . . COLEC10 8 118995452 119106582 N . N N 0.145710487 60.67604329 0.098536735 43.2 . . COLEC11 2 3594832 3644644 N . N N 0.239573531 66.85188401 0.072034475 44.9 DM 3MC syndrome 2, 265050 (3) COLEC12 18 316740 500722 N . N N 0.37397413 74.63680037 0.991466233 9.6 . . COLGALT1 19 17555594 17583162 N . N N -0.205821909 35.15077849 0.003730356 59.3 . . COLGALT2 1 183929854 184037729 N . N N 0.332631104 72.45470857 5.02E-07 83.7 . . COMMD2 3 149738470 149752499 N . N N -0.062612024 44.95572148 3.65E-07 84.2 . . COMMD3 10 22315974 22320308 N . N N -0.20804097 35.04659374 0.007420115 56.3 . . COMMD3-BMI1 10 22316388 22329542 N . N N -0.824258627 11.07831221 0.022599348 51 . . COMMD4 15 75335891 75343224 N . N N 0.317324799 71.58071424 0.23775819 37.4 . . COMMD5 8 144841042 144853736 N . N N 0.455250847 78.5495167 0.000302003 68.6 . . COMMD6 13 75525219 75549439 N . N N -0.081445868 43.46240667 0.131043403 41.5 . . COMMD7 20 32702691 32743997 N . N N 0.072442927 55.09058286 6.05E-06 79.2 . . COMMD8 4 47450796 47463719 N . N N 0.284443026 69.58383979 9.08E-07 82.7 . . COMP 19 18782773 18791314 N . N Y -0.675798769 14.60322973 . . DM Pseudoachondroplasia, 177170 (3); Epiphyseal dysplasia, multiple 1, 132400 (3) COMT 22 19941607 19969975 N Viable N Y 0.943117683 91.90252937 0.000846658 65.4 DM {Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder, susceptibility to}, 167870 (3) COMTD1 10 75233969 75236030 N . N N . . 5.22E-06 79.5 . . COPA 1 160289273 160343400 N . N N -0.940185321 8.855704115 0.999999998 0.7 . {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3) COPB1 11 14443440 14500027 N . N N -0.40744745 24.05510216 0.99976344 4.4 . . COPB2 3 139355600 139389732 N . N N -0.751788615 12.55426289 0.999998457 1.8 . . COPE 19 18899514 18919397 N . N N 0.071637002 55.02112635 0.616647941 27 . . COPG2 7 130506238 130668748 N . N N . . 0.056037357 46.4 . . COPRS 17 31851864 31859337 N . N N 0.04897698 53.33680616 0.832459193 20.5 . . COPS4 4 83034447 83075818 N . N Y -0.174200506 37.13028882 0.997696128 7.2 . . COPS7A 12 6723741 6731875 N . N N -0.054152096 45.51716154 0.922072581 16.6 . . COPS7B 2 231781671 231809254 N . N N 0.08936246 56.39289228 0.207502332 38.5 . . COPZ1 12 54301202 54351849 N . N N 0.24597088 67.24547086 0.890701153 18.2 . . COPZ2 17 48026167 48038030 N . N N . . 0.001709489 62.5 . . COQ10A 12 56266858 56270966 N . N N -0.151691433 38.58887538 0.121096484 42 . . COQ10B 2 197453423 197475308 N . N N -0.055108985 45.45349308 0.140032717 41.1 . . COQ3 6 99369400 99394204 N . N N 0.582953443 83.61405337 7.06E-10 91.4 . . COQ5 12 120503274 120534434 N . N N 0.474082735 79.50454361 7.95E-05 72.6 DM . COQ9 16 57447425 57461275 N . N Y 0.678583269 86.3807374 0.000172325 70.3 DM Coenzyme Q10 deficiency, primary, 5, 614654 (3) CORIN 4 47593998 47838106 N . N Y -0.013966238 48.32436187 6.35E-20 98.7 DM Preeclampsia/eclampsia 5, 614595 (3) CORO1A 16 30182827 30189076 N Viable N Y -0.80542189 11.43717081 0.954491479 14.4 DM Immunodeficiency 8, 615401 (3) CORO1B 11 67435510 67443821 N . N N -0.200232492 35.49227296 0.260249265 36.7 . . CORO1C 12 108645109 108731596 N . N Y -0.488371748 20.65173352 0.997273678 7.4 . . CORO2A 9 98120975 98192640 N . N N -0.14484119 39.0750709 2.57E-06 80.8 . . CORO2B 15 68578969 68727806 N . N N -0.736934592 12.97100191 0.779053737 22.3 . . CORO6 17 29614756 29622907 N . N N 0.030446167 51.85506743 3.14E-05 75.1 . . CORO7 16 4354542 4425705 N . N N 1.158642234 94.61712103 7.31E-12 94.4 . . CORO7-PAM16 16 4340251 4420494 N . N N 0.770371059 88.56861724 1.63E-12 95.1 . . CORT 1 10449719 10451902 N . N Y 0.018964694 50.97528506 0.009837791 55 . . COTL1 16 84565594 84618077 N Viable N Y -0.155519548 38.35156567 0.066759152 45.4 . . COX10 17 14069496 14208677 N . N N 0.445177058 78.10962551 0.646572546 26.1 DM Mitochondrial complex IV deficiency, 220110 (3); Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3) COX11 17 54951902 54968785 N . N N -0.182660566 36.56884876 0.402262801 32.7 . . COX14 12 50111979 50120457 N . N N 0.152107222 61.13329861 0.193248417 38.9 . ?Mitochondrial complex IV deficiency, 220110 (3) COX16 14 70325081 70359731 N . N N 0.078032613 55.54205012 0.030459984 49.5 . . COX18 4 73052362 73069755 N . N N -0.054152096 45.51716154 3.71E-05 74.7 . . COX20 1 244835322 244845057 N . N N 0.131510986 59.50685883 0.011885436 54.2 DM Mitochondrial complex IV deficiency, 220110 (3) COX4I2 20 31637888 31645006 N . N Y 0.490854514 80.1238641 0.001475715 63.1 DM Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3) COX5A 15 74919791 74938168 N . N N -0.202452202 35.31863171 0.324238693 35 . . COX6A1 12 120438090 120440742 N . N Y -0.184574695 36.47624009 0.060957562 45.9 . Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3) COX6A2 16 31427731 31428428 N . N Y 0.190579485 63.80158592 0.549091486 28.7 . . COX6B1 19 35648223 35658861 N . N N 0.046106757 53.06476819 0.081622093 44.3 DM ?Mitochondrial complex IV deficiency, 220110 (3) COX6B2 19 55349306 55354814 N . N N 0.25810805 67.9284598 0.048710576 47.2 . . COX6C 8 99873200 99894062 N . N N 0.153063769 61.21433119 0.230650731 37.7 . . COX7A1 19 36150922 36152869 N Viable N Y 0.061112993 54.1992244 0.003562518 59.6 FP . COX7A2 6 75237675 75250323 N . N N 0.102455237 57.40579962 0.375561255 33.5 DP . COX7A2L 2 42333546 42425088 N . N N 0.064939857 54.54650692 0.000410249 67.7 . . COX7B X 77899438 77907373 N . N N 0.197126183 64.20674886 0.656619052 25.9 DM Linear skin defects with multiple congenital anomalies, 300887 (3) COX7B2 4 46734827 46909235 N . N N 0.009548021 50.25756786 0.474554621 30.7 . . COX8A 11 63974607 63976543 N . N N 0.152107222 61.13329861 0.49140758 30.2 . . COX8C 14 93347191 93348356 N . N N 0.296580367 70.28419286 0.144098451 40.9 . . CP 3 149162410 149222055 N Viable N Y 0.592835591 83.89187938 0.000168752 70.3 DM [Hypoceruloplasminemia, hereditary], 604290 (3); Cerebellar ataxia, 604290 (3); Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3) CPA1 7 130380339 130388114 N . N Y 0.508878128 80.81264108 1.10E-05 77.8 . . CPA2 7 130266827 130289798 N Viable N Y 0.152407451 61.18539098 1.74E-08 88.3 . . CPA3 3 148865256 148897196 N . N Y 1.292267138 95.71684899 1.28E-12 95.2 . . CPA4 7 130293134 130324180 N . N N 0.563313685 82.85003183 3.55E-07 84.3 DP . CPA5 7 130344816 130368730 N . N N 0.878454064 90.71598078 0.047488738 47.3 . . CPA6 8 67422125 67746345 N . N N 0.138358236 60.06251085 1.70E-09 90.7 DM Epilepsy, familial temporal lobe, 5, 614417 (3); Febrile seizures, familial, 11, 614418 (3) CPAMD8 19 16892947 17026815 N . N N 1.503858881 96.97285408 2.02E-14 96.5 . . CPB1 3 148791102 148860187 N Viable N Y 0.122395494 58.93963072 2.27E-14 96.5 . . CPD 17 30378905 30469989 N . N N -0.783422682 11.90021416 0.247131561 37.2 . . CPE 4 165361194 165498320 N Viable N Y 0.466579567 79.16883718 0.997846906 7 DFP . CPEB1 15 82543201 82648861 N . N Y -0.228482701 33.83110494 0.999591314 4.9 . . CPEB2 4 15002674 15070153 N . N N -0.799833369 11.59923598 0.992723049 9.2 . . CPEB3 10 92046692 92291087 N . N Y -0.207887594 35.06395786 0.994664052 8.5 . . CPEB4 5 173888280 173961976 N . N Y -1.045533968 7.252416507 0.996854728 7.6 . . CPED1 7 120988677 121297444 N . N N 0.139772777 60.16090756 8.35E-17 97.7 . . CPLX1 4 784957 826198 N . N Y -0.223047092 34.13208312 0.795789957 21.8 . . CPLX2 5 175796310 175884020 N . N Y 0.069572814 54.86484922 0.717836321 24.1 DFP . CPLX3 15 74826547 74831802 N . N Y 0.04897698 53.33680616 0.385406551 33.2 . . CPLX4 18 59275156 59318649 N . N Y 0.071486219 54.9863981 0.002189416 61.6 . . CPM 12 68842197 68971570 N . N N -0.086882719 43.06881982 8.07E-07 82.9 . . CPN1 10 100042193 100081877 N . N Y -0.800636123 11.57608381 1.33E-06 82.2 DM . CPN2 3 194339765 194351328 N . N N 0.167564929 62.36036349 0.000231795 69.3 . . CPNE1 20 35626031 35664956 N . N N 1.675143936 97.82369624 3.87E-07 84.1 . . CPNE2 16 57092537 57148367 N . N N -0.657116328 15.15309371 0.54400307 28.8 . . CPNE3 8 86484830 86561498 N . N N 0.424581613 77.07935405 5.16E-13 95.5 . . CPNE4 3 131533555 132285410 N . N N -1.099017094 6.586791688 0.775139285 22.4 . . CPNE5 6 36740775 36840002 N Viable N Y -0.269673173 31.29015454 0.07788975 44.6 . . CPNE6 14 24070837 24078100 N . N N -0.989180225 8.05116629 0.918263626 16.8 . . CPNE7 16 89575768 89597246 N . N N -0.322043675 28.14724779 1.63E-13 95.9 . . CPNE8 12 38646822 38907430 N . N N -1.008973152 7.750188111 0.078004273 44.6 . . CPNE9 3 9703807 9729908 N . N N -0.70963918 13.64820281 0.001032103 64.6 . . CPO 2 206939554 206969474 N . N N 0.316517317 71.52862187 1.83E-13 95.9 . . CPOX 3 98521132 98593723 N . N N 0.278045399 69.20761706 0.023227347 50.9 DM Coproporphyria, 121300 (3); Harderoporphyria, 121300 (3) CPPED1 16 12659799 12804017 N . N N 1.109302711 94.06146901 3.26E-10 92.1 . . CPQ 8 96645227 97149654 N . N N 0.903834133 91.15587197 7.30E-10 91.3 . . CPSF1 8 144393229 144409349 N . N N -2.449623969 1.012907333 0.001104454 64.3 . . CPSF2 14 92121937 92172145 N . N N -0.869123828 10.20431788 7.81E-05 72.6 . . CPSF3L 1 1311585 1324691 N . N N -1.204876245 5.52758002 5.79E-09 89.5 . . CPSF4 7 99438922 99457371 N . N N -0.207083847 35.09289807 0.629613784 26.7 . . CPSF4L 17 73248449 73262352 N . N N . . . . . . CPSF6 12 69239537 69274358 N . N N -0.490286222 20.58227702 0.99911368 5.8 . . CPSF7 11 61402641 61430031 N . N N -0.814840098 11.29246976 0.991330175 9.7 . . CPT1C 19 49690898 49713731 N . N Y -1.256305676 5.099264919 0.000284628 68.8 . ?Spastic paraplegia 73, autosomal dominant, 616282 (3) CPTP 1 1324756 1328897 N . N N . . . . . . CPXCR1 X 88747225 88754785 N . N N 0.567799588 82.98894484 0.077471847 44.6 . . CPXM1 20 2794069 2800637 N . N N -0.525584879 19.16999479 2.34E-11 93.8 . . CPXM2 10 123706207 123940267 N . N N 0.324323993 71.99166522 1.83E-10 92.5 FTV . CPZ 4 8592660 8619759 N . N N 1.442053718 96.6718759 4.51E-21 98.9 DM? . CR1 1 207496147 207640647 N . N N 1.294272966 95.73421312 9.34E-08 86.2 DM? CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3) CR2 1 207454230 207489895 N . N Y 1.577914105 97.37222897 2.17E-11 93.8 DM {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3); Immunodeficiency, common variable, 7, 614699 (3) CR392000.1 9 136249978 136251205 N . N N . . . . . . CRABP1 15 78340324 78348230 N . N Y -0.095495045 42.38583087 0.125504894 41.8 . . CRABP2 1 156699606 156705816 N . N Y -0.193034849 35.95531632 0.008166869 55.8 . . CRACR2A 12 3606633 3764819 N . N N . . . . . . CRACR2B 11 826144 831991 N . N N . . . . . . CRAMP1L 16 1612325 1677908 N . N Y -0.647404139 15.47722406 0.954541936 14.3 . . CRAT 9 129094810 129111189 N . N N 0.382434228 75.04775135 3.46E-07 84.3 . ?Carnitine acetyltransferase deficiency (1) CRBN 3 3148992 3179710 N Viable N Y -0.212519778 34.79191989 0.038494438 48.5 DM Mental retardation, autosomal recessive 2, 607417 (3) CRCP 7 66114604 66154568 N . N N -0.38061162 25.41529201 0.001398927 63.3 . . CRCT1 1 152514502 152516010 N . N N 0.145560638 60.65289113 0.00367304 59.4 . . CREB3L1 11 46277661 46321422 N . N Y 0.309014254 71.0076981 0.39937941 32.8 . . CREB3L3 19 4153601 4173054 N . N Y 0.568097884 83.00052092 1.59E-09 90.7 DM . CREB3L4 1 153967534 153974363 N . N Y 0.522927841 81.36829311 8.06E-05 72.5 FP . CREBL2 12 12611827 12645108 N . N N 0.113634918 58.26821786 0.623023672 26.8 . . CREBRF 5 173056352 173139284 N . N N -0.607465004 16.53643572 0.998406138 6.6 . . CREBZF 11 85659708 85682908 N . N N -0.493960577 20.43757597 0.036661649 48.7 . . CREG1 1 167529677 167553767 N . N N . . 0.017079445 52.4 . . CREG2 2 101345551 101387595 N . N N . . 0.005611307 57.6 . . CRELD1 3 9933822 9945413 N . N N -0.231201301 33.65746368 1.41E-06 82 DM {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3); Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) CRELD2 22 49918167 49927540 N Viable N Y 1.82141532 98.22885918 4.96E-08 87 DM . CREM 10 35126791 35212958 N . N Y -0.023988294 47.67610117 0.644423493 26.2 . . CRH 8 66176382 66178725 N . N Y . . 0.527789353 29.2 DM . CRHBP 5 76952713 76981158 N . N Y 0.470257259 79.32511431 0.98959447 10 . . CRHR1 17 45784280 45835828 N . N Y -0.745395207 12.75684436 0.792134286 21.9 DM . CRHR2 7 30651943 30700129 N . N Y 0.885957592 90.84910575 6.66E-07 83.2 . . CRIP1 14 105487199 105492267 N . N N 0.403538004 75.98541413 0.00135796 63.5 . . CRIP2 14 105472962 105480170 N . N N . . 0.005070278 58 . . CRIP3 6 43299710 43308797 N . N Y 0.051847216 53.50465937 0.033902639 49.1 . . CRIPAK 4 1391552 1395989 N . N N 5.975155692 99.89581525 2.43E-12 94.9 . . CRISP1 6 49834257 49877096 N . N Y 0.866169548 90.46709498 0.000219402 69.5 . . CRISP2 6 49692358 49713590 N . N N 1.002191365 92.79388783 7.55E-10 91.3 FP . CRISP3 6 49727384 49744437 N . N Y 0.335200382 72.59362158 0.000109838 71.6 . . CRISPLD1 8 74984515 75034558 N . N N -0.175004808 37.08977253 0.000148412 70.7 . . CRLF2 X 1187549 1212750 N . N Y . . 0.002780207 60.7 . . CRLF3 17 30769388 30824776 N Viable N Y 0.126071509 59.22903282 0.975928566 12.3 . . CRLS1 20 6006090 6040053 N . N N 0.148430386 60.90756497 0.03350806 49.2 . . CRMP1 4 5748084 5893058 N . N Y -1.100778721 6.563639521 0.953273235 14.5 DM? . CRNKL1 20 20034368 20056046 N . N N -0.682197707 14.45852868 0.881981247 18.5 . . CRNN 1 152409243 152414263 N . N N -0.049216095 45.88759623 0.000495361 67.1 . . CROCC 1 16740273 16972979 N . N Y 4.828947821 99.83793483 4.71E-20 98.7 . . CROCC2 2 240906330 240993311 N . N N . . . . . . CROT 7 87345681 87399795 N . N N 0.4799743 79.7650055 6.75E-21 98.9 . . CRP 1 159712289 159714589 N . N Y 0.016245619 50.75533947 3.06E-05 75.2 DFP . CRTAC1 10 97865000 98030828 N . N Y 0.222956617 65.82161255 0.000140635 70.9 . . CRTAM 11 122838500 122872639 N . N Y -0.106521065 41.70862997 1.15E-06 82.4 . . CRTAP 3 33113979 33147773 N . N Y 0.47503921 79.52769578 5.34E-05 73.7 DM Osteogenesis imperfecta, type VII, 610682 (3) CRTC1 19 18683677 18782333 N . N Y -0.994770199 7.935405452 0.980548236 11.7 . Mucoepidermoid salivary gland carcinoma (3) CRTC2 1 153947669 153958625 N . N Y -0.513447957 19.68513052 0.996361791 7.8 . . CRX 19 47819779 47843330 N . N Y 0.111065501 58.08300052 0.623714816 26.8 DM Cone-rod retinal dystrophy-2, 120970 (3); Leber congenital amaurosis 7, 613829 (3) CRY1 12 106991364 107093829 N . N Y -0.968583512 8.404236847 4.24E-07 84 . . CRY2 11 45847118 45883248 N . N Y -0.724645773 13.26040401 0.993283036 9.1 . . CRYAA 21 43169008 43172805 N . N Y -0.226721694 33.94107773 0.521020324 29.4 DM Cataract 9, multiple types, 604219 (3) CRYAB 11 111908565 111923722 N . N N 0.132467594 59.58789142 0.00909092 55.3 DM Myopathy, myofibrillar, 2, 608810 (3); Cataract 16, multiple types, 613763 (3); Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3); Cardiomyopathy, dilated, 1II, 615184 (3) CRYBA1 17 29246863 29254494 N . N N 0.006828994 50.02025815 0.000721666 65.9 DM Cataract 10, multiple types, 600881 (3) CRYBA2 2 218990189 218993421 N . N N 0.227287513 66.09365052 0.000626082 66.3 DM ?Cataract 42, 115900 (3) CRYBA4 22 26621964 26630672 N . N N 0.44774765 78.23696244 6.69E-08 86.6 DM Cataract 23, 610425 (3) CRYBB1 22 26599278 26618088 N . N N 0.23015724 66.25571569 0.00038865 67.8 DM Cataract 17, multiple types, 611544 (3) CRYBB2 22 25219522 25231869 N . N Y 0.05935026 54.0603114 0.583885171 27.8 DM Cataract 3, multiple types, 601547 (3) CRYBB3 22 25199850 25207363 N Viable N Y 1.019110704 93.00225734 4.07E-10 91.9 DM Cataract 22, autosomal recessive, 609741 (3) CRYBG3 3 97822040 97944963 N . N N . . 0.000473718 67.2 . . CRYGA 2 208160740 208163576 N . N N 0.622235063 84.81217804 0.000127117 71.2 FTV . CRYGB 2 208142573 208146168 N . N N 0.030294875 51.83191526 2.06E-09 90.5 DM Cataract 39, multiple types, autosomal dominant, 615188 (3) CRYGC 2 208128137 208129830 N Viable N Y 0.30327499 70.71250796 0.043609846 47.8 DM Cataract 2, multiple types, 604307 (3) CRYGD 2 208121607 208124501 N . N N 0.38485322 75.1519361 0.008226481 55.8 DM Cataract 4, multiple types, 115700 (3) CRYGN 7 151428835 151440813 N . N N 0.567799588 82.98894484 4.64E-05 74.1 . . CRYGS 3 186538441 186546702 N . N Y -0.116090248 41.04300515 0.182730047 39.2 DM Cataract 20, multiple types, 116100 (3) CRYL1 13 20403667 20525857 N . N N 0.131661109 59.52422296 1.87E-05 76.4 . . CRYM 16 21238874 21303083 N Viable N Y 0.066853307 54.65069167 0.027148784 50.2 DM Deafness, autosomal dominant 40, 616357 (3) CRYZ 1 74705482 74733408 N . N N 0.33806995 72.74989871 1.14E-14 96.7 . . CRYZL1 21 33589341 33643926 N . N N -0.194795544 35.85113156 0.090615676 43.7 DM? . CSAD 12 53157663 53180909 N . N N 0.309165138 71.01927418 2.48E-06 80.9 . . CSAG1 X 152727484 152733735 N . N N 0.661519885 85.95821034 0.000227012 69.4 FTV . CSDC2 22 41560763 41577741 N . N N 0.032057299 51.99976848 0.079803516 44.5 . . CSDE1 1 114716913 114758676 N . N N -1.058626991 7.084563292 0.999951564 3.2 DM? . CSF2RA X 1268800 1310381 N . N N 1.077525936 93.70839845 0.001866576 62.1 DM Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3) CSF2RB 22 36913628 36940449 N . N Y 0.096515022 56.85593564 0.001866652 62.1 DM Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3) CSF3 17 40015361 40017813 N . N Y 0.467388591 79.20356543 0.480555586 30.6 . . CSGALNACT1 8 19404161 19758029 N . N Y 0.332784162 72.46628466 6.88E-05 72.9 DM? . CSGALNACT2 10 43138486 43185308 N . N N -0.11115351 41.40186375 0.451240635 31.3 . . CSH1 17 63894909 63896661 N . N N 0.398903333 75.78283267 0.741138849 23.4 DM [Placental lactogen deficiency] (1) CSH2 17 63872012 63881863 N . N N 0.579127749 83.41725994 0.458223921 31.2 . . CSHL1 17 63909597 63918838 N Viable N Y 1.953643795 98.50089715 0.000458793 67.3 . . CSMD1 8 2935353 4994972 N . N Y -5.289547213 0.075244545 . . DM? . CSMD2 1 33513999 34165842 N . N N -3.281807087 0.457255311 . . . . CSMD3 8 112222928 113437099 N . N N -5.164125256 0.081032587 0.999999996 0.7 DM? . CSN1S1 4 69931081 69946574 N . N Y 0.77693964 88.71331828 8.30E-06 78.5 . . CSN2 4 69955256 69961007 N . N Y 0.154170188 61.31851595 0.058878796 46.1 . . CSN3 4 70242588 70251428 N . N Y 0.476804223 79.61451641 0.000194175 69.9 . . CSNK1A1L 13 37103259 37105664 N . N N 0.724559727 87.51519361 0.000361794 68.1 FTV . CSNK1E 22 38290691 38398522 N . N Y -0.53817717 18.67222319 0.967319235 13.3 DP . CSNK1G1 15 64165517 64356187 N . N N -0.490286222 20.58227702 0.999715379 4.6 . . CSNK1G2 19 1941149 1981338 N . N N -0.351402069 26.69444927 0.923449277 16.5 . . CSNK1G3 5 123512099 123617045 N . N N -0.809251878 11.37929039 0.996751666 7.7 FTV . CSNK2A2 16 58157907 58197920 N . N Y -0.012004394 48.53851942 0.999154189 5.7 DM . CSNK2A3 11 11351942 11353357 N . N N 1.275345668 95.59530011 1.32E-11 94.1 . . CSPG4 15 75674322 75712848 N Viable N Y 2.363228224 99.04497309 8.90E-05 72.2 . . CSPG5 3 47562239 47580792 N . N Y -0.119613321 40.80569543 0.414829723 32.4 . . CSPP1 8 67062426 67196263 N . N N -0.061855873 44.96729756 3.28E-13 95.7 . Joubert syndrome 21, 615636 (3) CSRNP2 12 51061205 51083664 N . N N -0.145949748 39.0056144 0.950516344 14.7 . . CSRNP3 2 165469647 165689407 N . N N -0.293139081 29.82577994 0.83245293 20.5 . . CSRP1 1 201483530 201509456 N . N Y -0.086078072 43.11512415 0.003422034 59.8 . . CSRP2 12 76858715 76879060 N . N Y -0.199580796 35.52700122 0.000305232 68.6 . . CST1 20 23747553 23751268 N . N N 0.9186948 91.47421427 2.87E-08 87.7 . . CST11 20 23450403 23452857 N . N N 0.315412023 71.43022515 0.004833312 58.3 . . CST2 20 23823769 23826731 N . N N 1.29771377 95.77472941 2.19E-06 81.1 . . CST3 20 23626706 23638473 N . N Y . . 0.069035214 45.1 DM Cerebral amyloid angiopathy, 105150 (3); Macular degeneration, age-related, 11, 611953 (3) CST4 20 23685640 23689040 N . N N 0.836155347 89.91144296 7.30E-06 78.8 . . CST5 20 23875935 23879750 N . N Y 0.741333534 87.88562829 0.021648392 51.2 . . CST7 20 24949230 24959928 N . N Y 0.437375642 77.75655496 9.92E-07 82.5 . . CST8 20 23491101 23496018 N . N N 0.468344773 79.24408173 0.085629146 44.1 . . CST9 20 23602410 23605876 N . N N 0.498357775 80.40169011 0.095109295 43.5 DM? . CST9L 20 23564732 23568749 N . N Y 0.671890699 86.22446027 2.08E-10 92.4 . . CSTA 3 122325244 122341972 N . N N 0.388531503 75.30242519 0.000533614 66.9 DM Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, 607936 (3) CSTB 21 43772512 43776445 N . N Y -0.043930449 46.31591133 0.000132259 71.1 DM Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) CSTF1 20 56392371 56406369 N . N N -0.891789373 9.747062569 0.93789587 15.7 . . CSTF2 X 100820359 100840932 N . N N -0.266151109 31.49273601 0.30579834 35.6 . . CSTF2T 10 51695487 51699591 N . N Y -0.245250499 32.76031718 0.229519704 37.7 DM? . CSTF3 11 33077188 33162371 N . N N -0.556857198 18.01238641 0.9964343 7.8 . . CSTL1 20 23439685 23444930 N . N N 0.929879279 91.71731203 0.000159598 70.5 . . CT45A1 X 135713453 135723539 N . N N . . . . . . CT45A10 X 135881063 135889086 N . N N . . . . . . CT45A2 X 135811668 135820012 N . N N . . . . . . CT45A3 X 135759846 135768191 N . N N . . . . . . CT45A5 X 135777130 135785298 N . N N . . 9.39E-06 78.2 DM? . CT45A6 X 135794706 135802656 N . N N . . . . . . CT45A7 X 135829247 135837268 N . N N . . . . . . CT45A8 X 135846499 135854538 N . N N . . . . . . CT45A9 X 135863776 135871812 N . N N . . . . . . CT47A1 X 120982466 120985788 N . N N . . . . . . CT47A10 X 120938701 120942023 N . N N . . . . . . CT47A11 X 120933840 120937158 N . N N . . . . . . CT47A12 X 120930250 120932301 N . N N . . . . . . CT47A2 X 120977606 120980928 N . N N . . . . . . CT47A3 X 120972746 120976068 N . N N . . . . . . CT47A4 X 120967886 120971208 N . N N . . . . . . CT47A5 X 120958165 120966348 N . N N . . . . . . CT47A6 X 120953282 120961487 N . N N . . . . . . CT47A7 X 120953288 120956600 N . N N . . . . . . CT47A8 X 120877490 120951744 N . N N . . . . . . CT47A9 X 120943561 120946883 N . N N . . . . . . CT47B1 X 120872603 120875929 N . N N 1.284763074 95.69948486 0.351018055 34.1 . . CT55 X 135156536 135171398 N . N N 0.267523946 68.51884008 . . . . CT62 15 71110244 71115494 N . N N 0.109001675 57.91514731 0.033198161 49.2 . . CT83 X 116461682 116463003 N . N N 0.205585801 64.70452046 . . . . CTAG1A X 154585143 154586821 N . N N . . . . . . CTAG1B X 154617604 154619282 N . N N . . . . . . CTAG2 X 154651972 154653579 N . N N 1.137260955 94.40875152 0.005954387 57.3 . . CTAGE1 18 22413601 22417915 N . N N 0.185594633 63.55848816 2.10E-06 81.2 . . CTAGE15 7 143571801 143574387 N . N N . . 0.784298474 22.2 . . CTAGE4 7 144183466 144186053 N . N N . . . . . . CTAGE5 14 39265284 39388513 N . N N 0.147122374 60.79180413 0.001876368 62.1 . . CTAGE6 7 143755089 143757696 N . N N . . 0.366836245 33.7 . . CTAGE8 7 144266701 144269288 N . N N . . . . . . CTAGE9 6 131708684 131711017 N . N N . . . . . . CTB-102L5.4 19 38289151 38304910 N . N N . . . . . . CTB-133G6.1 19 7348943 7383385 N . N N . . . . . . CTB-50L17.14 19 4528427 4540067 N . N N . . . . . . CTB-54O9.9 19 5784005 5785619 N . N N . . . . . . CTB-55O6.8 19 14072536 14075062 N . N N . . . . . . CTB-60B18.6 19 49022953 49036895 N . N N . . . . . . CTB-96E2.2 17 28364288 28368012 N . N N . . . . . . CTBS 1 84549606 84574480 N . N Y 0.957169041 92.14562713 2.01E-07 85.2 . . CTC1 17 8224821 8248044 N . N N 0.116460058 58.44185912 3.51E-07 84.3 DM Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3) CTC-260F20.3 19 19516227 19536076 N . N N . . 9.13E-08 86.2 . . CTC-273B12.7 19 48465837 48472431 N . N N . . . . . . CTC-326K19.6 19 49909501 49958391 N . N N . . . . . . CTC-360G5.8 19 38915404 38949855 N . N N . . . . . . CTC-398G3.6 19 11466240 11505698 N . N N . . . . . . CTC-429P9.4 19 16577642 16660115 N . N N . . . . . . CTC-432M15.3 5 131425891 131796983 N . N N . . 0.996763358 7.7 . . CTC-435M10.3 19 41350853 41425004 N . N N . . 1.23E-08 88.7 . . CTC-454I21.3 19 37093019 37210512 N . N N . . . . . . CTC-479C5.12 16 67929614 67936017 N . N N . . . . . . CTC-487M23.8 5 112861188 112893079 N . N N . . . . . . CTC-490E21.12 19 40801297 40898282 N . N N . . . . . . CTC-512J12.6 19 44329695 44401608 N . N N . . . . . . CTC-534A2.2 5 65624765 65630891 N . N N . . . . . . CTC-554D6.1 5 112827213 112867582 N . N N . . . . . . CTCFL 20 57495966 57525652 N . N Y -0.079076712 43.71129247 0.783031842 22.2 . . CTD-2006C1.10 19 12017888 12052967 N . N N . . . . . . CTD-2006C1.13 19 11925075 11979290 N . N N . . . . . . CTD-2105E13.6 19 55352301 55359516 N . N N . . . . . . CTD-2116N17.1 15 64180348 64373781 N . N N . . 0.993204961 9.1 . . CTD-2132N18.3 17 42119674 42154916 N . N N . . . . . . CTD-2135J3.4 8 10725399 10839847 N . N N . . . . . . CTD-2140B24.4 12 133130984 133202369 N . N N . . 0.000562248 66.7 . . CTD-2192J16.20 19 12525720 12580975 N . N N . . . . . . CTD-2192J16.22 19 12643831 12648397 N . N N . . . . . . CTD-2192J16.24 19 12664828 12669397 N . N N . . . . . . CTD-2207O23.10 19 7533595 7540059 N . N N . . . . . . CTD-2207O23.12 19 7507052 7519622 N . N N . . . . . . CTD-2207O23.3 19 7380964 7472477 N . N N . . . . . . CTD-2278I10.6 19 17267418 17282966 N . N N . . . . . . CTD-2287O16.3 5 116022391 116058928 N . N N . . . . . . CTD-2313N18.7 11 71878453 71884561 N . N N . . . . . . CTD-2349B8.1 16 19114002 19173578 N . N N . . . . . . CTD-2369P2.10 19 10305427 10316009 N . N N . . . . . . CTD-2369P2.12 19 10315471 10320678 N . N N . . . . . . CTD-2370N5.3 17 31305213 31318831 N . N N . . . . . . CTD-2410N18.5 5 134167170 134226071 N . N N . . . . . . CTD-2501B8.1 17 63484817 63521848 N . N N . . . . . . CTD-2510F5.6 17 59197566 59215226 N . N N . . . . . . CTD-2521M24.10 19 17436611 17460804 N . N N . . . . . . CTD-2528L19.4 19 37689865 37719188 N . N N . . . . . . CTD-2535L24.2 17 65538102 65641033 N . N N . . . . . . CTD-2545G14.7 17 7240427 7244635 N . N N . . . . . . CTD-2545M3.6 19 50415799 50428409 N . N N . . . . . . CTD-2550O8.5 19 8308283 8321379 N . N N . . . . . . CTD-2561J22.3 19 21405159 21491266 N . N N . . . . . . CTD-2583A14.10 19 57819719 57858941 N . N N . . . . . . CTD-2583A14.9 19 57876765 57916591 N . N N . . . . . . CTD-2587H24.4 19 55154757 55160671 N . N N . . . . . . CTD-2616J11.11 19 51350373 51368099 N . N N . . . . . . CTD-3074O7.11 11 66509079 66533613 N . N N . . 2.03E-07 85.1 . . CTD-3088G3.8 16 11359845 11523588 N . N N . . . . . . CTD-3105H18.14 19 12379189 12401274 N . N N . . . . . . CTD-3105H18.16 19 12391949 12441082 N . N N . . . . . . CTD-3105H18.18 19 12433103 12484816 N . N N . . . . . . CTD-3138B18.4 19 58229465 58286807 N . N N . . . . . . CTD-3148I10.9 19 49462752 49486231 N . N N . . . . . . CTD-3214H19.16 19 7678501 7682854 N . N N . . . . . . CTD-3214H19.4 19 7629796 7643048 N . N N . . . . . . CTD-3222D19.2 19 16479067 16628204 N . N N . . . . . . CTDP1 18 79679801 79756623 N . N N -0.424217888 23.37790126 0.924155319 16.4 DM Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3) CTDSP1 2 218398256 218405941 N . N N -0.143231429 39.15031545 0.902026976 17.7 . . CTDSP2 12 57819927 57846739 N . N N -0.38061162 25.41529201 0.397665011 32.8 . . CTDSPL 3 37861960 37984469 N Viable N Y 0.096865517 56.89645193 0.088848186 43.8 . . CTF1 16 30896607 30903560 N . N Y . . 0.138254694 41.2 DM . CTGLF11P 10 46337224 46358714 N . N N . . . . . . CTH 1 70411218 70439851 N . N Y 0.164543267 62.12884181 4.09E-05 74.4 DM Cystathioninuria, 219500 (3); Homocysteine, total plasma, elevated (3) CTHRC1 8 103371515 103382997 N . N Y 0.369846866 74.37633848 0.008180662 55.8 DM Barrett esophagus/esophageal adenocarcinoma, 614266 (3) CTIF 18 48539046 48863217 N . N N -0.46092589 21.86143428 0.98275458 11.3 . . CTLA4 2 203867786 203873960 N . N Y -0.064525847 44.79365631 0.577322419 28.1 DFP {Hashimoto thyroiditis}, 140300 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3); {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Celiac disease, susceptibility to, 3}, 609755 (3); Autoimmune lymphoproliferative syndrome, type V, 616100 (3) CTNNA3 10 65912518 67696169 N . N Y -0.271137911 31.19175783 6.54E-08 86.6 DM Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3) CTNNAL1 9 108942569 109013529 N . N N 0.210669154 65.1386236 2.31E-06 81 . . CTNNBL1 20 37693955 37872129 N . N N -0.688086328 14.26173525 0.285800479 36.1 . . CTNND1 11 57753243 57819546 N . N N -0.417671117 23.59205881 0.995312685 8.3 DM? . CTNND2 5 10971840 11904043 N . N Y -2.704142359 0.792961741 0.999999952 1 DM? . CTNS 17 3636468 3661542 N . N Y 0.436717121 77.73340279 0.034122009 49 DM Cystinosis, nephropathic, 219800 (3); Cystinosis, ocular nonnephropathic, 219750 (3); Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3); Cystinosis, atypical nephropathic, 219800 (3) CTPS1 1 40979335 41012565 N . N N -0.594373051 16.88371824 0.932192404 16 . Immunodeficiency 24, 615897 (3) CTPS2 X 16588003 16712936 N . N Y -0.158237463 38.14319616 0.433684611 31.9 . . CTRB1 16 75219000 75224924 N . N N . . 0.001796672 62.3 . . CTRB2 16 75204096 75207185 N . N N . . 0.283515253 36.1 . . CTRC 1 15438439 15449242 N . N N 0.541611524 82.1265266 5.22E-06 79.5 DM {Pancreatitis, chronic, susceptibility to}, 167800 (3) CTRL 16 67927640 67932414 N . N N 0.708596698 87.08109047 7.87E-06 78.7 DP . CTSA 20 45890144 45898820 N . N Y -0.695589597 14.07651791 4.23E-05 74.3 DM Galactosialidosis, 256540 (3) CTSB 8 11842524 11869448 N . N Y -0.15697692 38.23580483 . . DP . CTSC 11 88293592 88337787 N . N Y -0.423561627 23.40105342 0.000816868 65.5 DM Papillon-Lefevre syndrome, 245000 (3); Haim-Munk syndrome, 245010 (3); Periodontitis 1, juvenile, 170650 (3) CTSE 1 206009264 206023909 N . N Y 0.419797365 76.81889217 4.87E-07 83.8 . . CTSF 11 66563463 66568841 N . N Y -0.173091047 37.17659316 1.33E-13 96 DM Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3) CTSG 14 24573522 24576260 N . N Y 0.075313076 55.32210453 0.202072536 38.7 FP . CTSH 15 78921058 78949574 N . N Y -0.004349788 49.11153557 3.17E-06 80.4 DM . CTSK 1 150796208 150808323 N Viable N Y -0.129182361 40.14585866 0.000135211 71 DM Pycnodysostosis, 265800 (3) CTSO 4 155924118 155953917 N Viable N Y -0.044735327 46.24066678 6.35E-06 79.1 . . CTSS 1 150730196 150765957 N . N Y -0.190163599 36.15789778 0.628282929 26.7 . . CTSV 9 97029679 97039643 N . N N 0.284591847 69.63014412 9.73E-06 78.1 . . CTSW 11 65879809 65883741 N . N Y 0.455399499 78.56688082 2.63E-07 84.7 . . CTSZ 20 58995185 59007247 N . N Y -0.041864765 46.45482433 1.32E-09 90.9 DP . CTTN 11 70398404 70436584 Y Viable N Y -0.543460696 18.45806564 0.215776883 38.2 . . CTTNBP2 7 117710651 117874139 N Viable N Y -1.068188972 6.945650287 2.60E-06 80.8 DM? . CTTNBP2NL 1 112396181 112463456 N . N N -0.062308427 44.96150952 0.141381252 41 . . CTU1 19 51097606 51108370 N . N N . . 0.134628145 41.4 . . CTU2 16 88706463 88715386 N . N N 1.333939312 96.00046304 3.22E-14 96.4 . . CTXN1 19 7924485 7926166 N . N N 0.007634404 50.08971465 0.105057381 42.8 . . CTXN2 15 48191539 48203756 N . N N . . . . . . CTXN3 5 127649044 127658630 N . N N 0.160566904 61.79892342 0.544481268 28.8 . . CU104787.1 22 11065974 11067346 N . N N . . . . . . CUEDC1 17 57861243 57955323 N . N N -0.387003268 25.10852579 6.38E-05 73.2 . . CUEDC2 10 102423245 102432661 N . N N -0.242684848 32.87607802 0.071907438 44.9 . . CUL2 10 35008551 35090642 N . N N -0.848527708 10.5805406 0.99999841 1.9 . . CUL4A 13 113208193 113267108 N . N Y -0.868166866 10.23904613 0.999412877 5.4 . . CUL5 11 108008733 108107776 N . N N -0.964909164 8.462117266 0.999964792 3.1 DM? . CUL9 6 43182175 43224587 N . N Y -1.155957785 6.025351624 0.967475855 13.3 . . CUTA 6 33416442 33418317 N . N N 0.507773402 80.77212479 1.14E-05 77.7 FTV . CUTC 10 99702558 99756134 N . N N -0.008177066 48.7989813 0.020486565 51.5 . . CUZD1 10 122832149 122850793 N . N Y 1.11313019 94.09040921 5.28E-06 79.4 . . CWC15 11 94962622 94973612 N . N N . . 0.900277212 17.8 . . CWC22 2 179944876 180007113 N . N N 0.104670547 57.58522892 0.018189074 52.2 . . CWC25 17 38800434 38825481 N . N N 0.785543295 88.88695954 0.008010166 55.9 . . CWF19L1 10 100232298 100267680 N . N N -0.158085076 38.15477224 5.69E-09 89.5 . ?Spinocerebellar ataxia, autosomal recessive 17, 616127 (3) CWF19L2 11 107326345 107457844 N . N N -0.037885915 46.7268623 9.65E-09 88.9 . . CWH43 4 48986247 49062081 N . N N -1.268587893 4.942987787 5.77E-15 96.8 . . CX3CL1 16 57372458 57385048 N . N Y 0.039862734 52.54963246 0.963378217 13.6 . . CX3CR1 3 39263494 39281735 N . N Y 0.930022697 91.72888812 0.107291641 42.7 DP {Rapid progression to AIDS from HIV1 infection}, 609423 (3); {Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3) CXCL1 4 73869393 73871242 N . N N 0.22250501 65.75794409 0.092410293 43.6 . . CXCL10 4 76021117 76023497 N . N Y 0.456060966 78.59003299 0.73102593 23.7 DP . CXCL11 4 76033682 76041415 N . N N 0.039560397 52.53226833 0.12608338 41.7 DFP . CXCL13 4 77511753 77611834 N . N Y 0.251561226 67.52329687 0.461397955 31.1 . . CXCL16 17 4733526 4739922 N . N Y 0.442157199 77.99386468 0.04321106 47.8 DP . CXCL17 19 42428288 42443048 N Viable N Y -0.088948948 42.87202639 0.028588373 49.9 . . CXCL2 4 74097035 74099293 N . N N 0.145560638 60.65289113 0.00141255 63.3 . . CXCL3 4 74036589 74038807 N . N N -0.035470476 46.91207964 0.010000245 54.9 . . CXCL5 4 73995642 73998779 N . N N 0.017051112 50.83058401 0.000222602 69.5 FP . CXCL6 4 73836497 73849064 N . N Y -0.08703502 43.03409157 0.000196265 69.8 . . CXCL8 4 73740506 73743716 N . N Y . . . . . . CXCL9 4 76001275 76007488 N Viable N Y 0.154020328 61.30693986 0.005333952 57.8 . . CXCR1 2 218162845 218166995 N . N Y 0.659899072 85.911906 0.000374556 68 DM {AIDS, slow progression to}, 609423 (3) CXCR2 2 218125289 218137253 N . N Y -0.410469485 23.93355328 0.405284397 32.6 . . CXCR3 X 71615916 71618517 N . N Y 0.066853307 54.65069167 0.257493403 36.8 FP . CXCR5 11 118883766 118897799 N . N Y -0.208844572 35.00607744 0.16025379 40.2 . . CXCR6 3 45940933 45948353 N . N Y -0.559729217 17.94292991 6.15E-05 73.3 . . CXorf21 X 30558824 30577844 N . N N 0.306952505 70.86878509 0.255813631 36.9 . . CXorf23 X 19912860 19970298 N . N N -0.532433342 18.88638074 0.803897864 21.5 . . CXorf36 X 45148374 45200901 N . N N 0.92619845 91.62470336 0.007603593 56.2 . . CXorf38 X 40626921 40647554 N . N N 0.156890071 61.50952133 0.005163584 58 . . CXorf40A X 149540355 149550510 N . N N 0.502036857 80.5116629 0.610741242 27.2 . . CXorf40B X 149929527 149938811 N . N N 0.672846598 86.25918852 0.642796581 26.3 . . CXorf49 X 71714371 71718151 N . N N . . . . . . CXorf49B X 71763424 71767204 N . N N . . . . . . CXorf56 X 119538149 119565408 N . N N 0.076119241 55.36840887 0.925801506 16.3 . . CXorf57 X 106611930 106679442 N . N N -0.621514277 16.14863692 0.1871725 39.1 . . CXorf58 X 23907801 23939507 N . N N 0.9252426 91.60733924 0.000356507 68.1 . . CXorf65 X 71103889 71106788 N . N N 0.814457585 89.41367135 0.905102153 17.6 . . CXorf66 X 139955725 139965520 N . N N 0.432741275 77.53082132 0.018393036 52.1 . . CXorf67 X 51406915 51408843 N . N N . . 0.868926866 19.1 . . CXXC4 4 104468312 104494901 N . N N -0.349641992 26.83336227 . . . . CXXC5 5 139647299 139683882 N . N N -0.315801021 28.52347051 0.795355279 21.8 . . CYB561 17 63432304 63446378 N Viable N Y 0.335200382 72.59362158 0.698896027 24.6 . . CYB561A3 11 61348745 61362299 N . N N 0.006828994 50.02025815 0.058731723 46.1 . . CYB561D1 1 109494052 109502932 N . N N 0.073399639 55.17740348 0.015830419 52.9 . . CYB561D2 3 50350695 50358460 N . N N 0.294815417 70.1800081 0.014710475 53.3 . . CYB5A 18 74250847 74292016 N . N N 0.026467762 51.52514904 0.033739316 49.1 DM Methemoglobinemia, type IV, 250790 (3) CYB5B 16 69424525 69466266 N . N N 0.291946181 70.03530706 0.25957799 36.8 . . CYB5D1 17 7857746 7862282 N Viable N Y 0.097822207 56.98327256 4.58E-05 74.1 . . CYB5D2 17 4143168 4187310 N Viable N Y 0.642979476 85.46622678 4.57E-05 74.1 . . CYB5R1 1 202961869 202967280 N . N N -0.367365256 26.00567228 9.33E-09 89 . . CYB5R2 11 7665100 7677222 N Viable N Y 0.203971741 64.62927592 2.71E-05 75.5 . . CYB5R3 22 42617840 42649568 N . N N -0.049367758 45.85286797 0.210867104 38.4 DM Methemoglobinemia, type I, 250800 (3); Methemoglobinemia, type II, 250800 (3) CYB5R4 6 83859643 83967424 N . N Y -0.14307911 39.17346762 0.00034348 68.3 FP . CYB5RL 1 54172336 54200036 N . N N 0.792090504 89.02008451 4.23E-05 74.3 . . CYBA 16 88643283 88651152 N . N Y . . 0.003572983 59.6 DM Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) CYBB X 37780011 37813461 N Viable N Y -0.081293491 43.49713492 0.997697898 7.2 DM Chronic granulomatous disease, X-linked, 306400 (3); Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3) CYBRD1 2 171522247 171558133 N Viable N Y 0.629738398 85.04369972 0.351788246 34.1 DM . CYC1 8 144095027 144097525 N . N N -0.09438571 42.50159171 0.979014368 11.9 DM Mitochondrial complex III deficiency, nuclear type 6, 615453 (3) CYGB 17 76527356 76551175 N . N Y -0.321544247 28.21670429 0.23461677 37.6 . . CYHR1 8 144449582 144465677 N . N N . . 0.053830788 46.6 . . CYLC1 X 83861126 83886699 N . N N 1.219948174 95.23065347 0.606280836 27.3 . . CYLC2 9 102995311 103018488 N . N N 1.053906726 93.41320831 5.14E-07 83.7 . . CYP11B1 8 142872356 142879846 N . N Y 0.058847615 54.0197951 0.001433932 63.2 DM Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3) CYP17A1 10 102830531 102837533 Y Viable N Y -0.568991981 17.68825606 0.035030608 48.9 DM 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3); 17,20-lyase deficiency, isolated, 202110 (3) CYP19A1 15 51208057 51338610 N . N Y -0.48167256 20.94692366 0.00055961 66.7 DM Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3) CYP1A1 15 74719542 74725610 N . N Y 1.585087949 97.40695723 1.97E-07 85.2 DFP . CYP1B1 2 38066973 38109902 N . N Y 0.238767519 66.77663946 0.000296476 68.7 DM Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3); Peters anomaly, 604229 (3) CYP20A1 2 203238449 203305840 N . N Y 0.461946007 78.93152746 7.41E-10 91.3 . . CYP21A2 6 32038265 32041670 N . N N 1.323093579 95.93100654 0.672306731 25.4 DM Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3); Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3) CYP26C1 10 93060808 93069536 N . N Y 0.647613662 85.55883545 0.022954901 51 DM Focal facial dermal dysplasia 4, 614974 (3) CYP27A1 2 218781749 218815293 N . N Y 0.64967619 85.60513978 3.90E-11 93.5 DM Cerebrotendinous xanthomatosis, 213700 (3) CYP27B1 12 57762334 57768986 N Viable N Y -0.474169447 21.24790183 3.60E-06 80.2 DM Vitamin D-dependent rickets, type I, 264700 (3) CYP27C1 2 127184120 127220078 N . N N -0.766947849 12.27064884 0.000184567 70.1 . . CYP2A13 19 41088472 41096195 N . N Y 1.186408634 94.93546333 0.001434457 63.2 DFP . CYP2A6 19 40843538 40882210 N . N N 2.176406349 98.82502749 2.18E-06 81.2 DP Coumarin resistance, 122700 (3); {Nicotine addiction, protection from}, 188890 (3); {Lung cancer, resistance to}, 211980 (3) CYP2A7 19 40875439 40882752 N . N N 2.928246229 99.47907623 3.01E-10 92.1 . . CYP2B6 19 40991299 41018398 N . N N 2.747882579 99.33437518 2.29E-05 75.9 DM Efavirenz, poor metabolism of, 614546 (3); {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3) CYP2C18 10 94683621 94736190 N . N N -0.008830831 48.74688893 5.27E-08 86.9 DFP . CYP2C19 10 94762624 94853260 N . N N 1.262405321 95.51426752 2.54E-10 92.2 DFP Mephenytoin poor metabolizer, 609535 (3); Opremazole poor metabolizer, 609535 (3); Proguanil poor metabolizer, 609535 (3); Clopidogrel, impaired responsiveness to, 609535 (3) CYP2C8 10 95036772 95069497 N . N N 1.088704967 93.83573537 5.35E-12 94.6 DM Rhabdomyolysis, cerivastatin-induced (3) CYP2C9 10 94938658 94989390 N . N N 0.698523715 86.86693292 2.54E-08 87.9 DM Tolbutamide poor metabolizer (3); Warfarin sensitivity, 122700 (3) CYP2D6 22 42126499 42130906 N . N N 2.761148347 99.34595126 9.23E-10 91.2 DM {Debrisoquine sensitivity}, 608902 (3); {Codeine sensitivity}, 608902 (3) CYP2E1 10 133520406 133561220 N Viable N Y 0.125265848 59.15378827 0.265925587 36.6 DP . CYP2F1 19 41114432 41128366 N . N Y 1.54101848 97.18122359 2.76E-05 75.4 DP . CYP2J2 1 59893308 59926790 N . N N 0.503288375 80.58111941 4.51E-12 94.7 DFP . CYP2R1 11 14877440 14892252 N Viable N Y -0.483586384 20.81958673 3.05E-09 90.1 DM Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3) CYP2S1 19 41193049 41207539 N . N Y 0.267822797 68.56514441 0.000914984 65.1 . . CYP2U1 4 107931369 107953457 N . N N -0.079379727 43.6881403 0.081783015 44.3 DM Spastic paraplegia 56, autosomal recessive, 615030 (3) CYP2W1 7 983199 989640 N . N N . . 0.000980916 64.8 DP . CYP39A1 6 46549580 46652830 N . N N 0.139315016 60.15511952 2.01E-12 95 . . CYP3A4 7 99756960 99784265 N . N N 0.207798719 64.91288997 2.82E-07 84.7 DFP . CYP3A43 7 99828013 99866102 N . N N 0.313797733 71.32025236 1.47E-10 92.7 FP . CYP3A5 7 99648194 99679998 N . N N 0.031402963 51.9476761 5.21E-11 93.3 DFP {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3) CYP3A7 7 99705037 99735196 N . N Y -0.142122259 39.27186433 2.93E-07 84.6 DM . CYP46A1 14 99684304 99727301 N . N Y -0.875824863 10.04225271 0.754693331 23 DFP . CYP4A11 1 46929177 46941484 N . N Y 0.888979319 90.91277421 1.57E-15 97.2 DFP . CYP4A22 1 47137435 47149741 N . N N 2.271107925 98.9639405 1.42E-08 88.5 FP . CYP4B1 1 46757838 46819413 N Viable N Y 1.89566188 98.39092435 5.37E-10 91.7 FP . CYP4F11 19 15912367 15934867 N . N N 0.809314096 89.3094866 8.08E-15 96.7 . . CYP4F12 19 15672757 15697174 N Viable N Y 2.432579527 99.13179371 1.18E-09 91 FP . CYP4F2 19 15878023 15898120 N . N N 1.400352262 96.38247381 3.52E-11 93.6 DFP . CYP4F22 19 15508493 15552317 N . N N 0.347637183 73.26503444 0.000303611 68.6 DM Ichthyosis, congenital, autosomal recessive 5, 604777 (3) CYP4F3 19 15615617 15662825 N . N N 0.735238353 87.74671529 6.83E-14 96.2 DM? . CYP4F8 19 15615218 15630638 N . N N . . . . . . CYP4V2 4 186191520 186213456 N . N N 0.200295721 64.41511837 0.000200713 69.8 DM Bietti crystalline corneoretinal dystrophy, 210370 (3) CYP4X1 1 47023568 47050751 N . N N 0.031402963 51.9476761 1.72E-06 81.6 . . CYP4Z1 1 47067488 47118319 N . N N 0.882280274 90.76807316 5.28E-06 79.4 . . CYP7B1 8 64587763 64798761 N Viable N Y -0.909512511 9.411356138 2.14E-06 81.2 DM Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, autosomal recessive, 270800 (3) CYP8B1 3 42856005 42876165 N . N Y 0.292245427 70.07003531 0.000512932 67 . . CYSLTR1 X 78271464 78327691 N . N Y -0.27924293 30.68241014 0.004320462 58.8 DP . CYSLTR2 13 48653711 48711226 N . N Y 1.307129319 95.83839787 0.001554021 62.9 DFP . CYSRT1 9 137224635 137226311 N . N N . . . . . . CYSTM1 5 140174642 140282052 N Viable N Y 0.024554204 51.41517625 0.28430926 36.1 . . CYTH1 17 78674048 78782297 N . N N -0.535305023 18.7706199 0.994541234 8.6 . . CYTH2 19 48469032 48482314 N . N N -1.040902558 7.35081322 0.863501033 19.4 . . CYTH3 7 6161776 6272644 N . N N -0.648810144 15.40776755 0.356369423 34 . . CYTH4 22 37282027 37315345 N . N N -0.53897936 18.62591885 0.572494882 28.2 . . CYTIP 2 157414619 157488961 N Viable N Y -0.040907923 46.57058517 0.048798672 47.1 . . CYTL1 4 5014586 5019472 N . N Y 0.336965217 72.66886612 0.000652771 66.2 . . CYYR1 21 26466209 26573284 N . N N 0.302318539 70.64305146 0.034426589 49 . . D2HGDH 2 241734579 241768816 N . N N 0.241638002 66.97922093 0.000752024 65.7 DM D-2-hydroxyglutaric aciduria, 600721 (3) D4S234E 4 4348140 4419058 N . N N -0.23518181 33.35069746 . . . . DAAM2 6 39792298 39904877 N Viable N Y 0.572082303 83.16837414 0.998285962 6.7 . . DAB2IP 9 121567057 121785530 N . N Y -0.67072861 14.73056665 0.999652088 4.8 DM? . DACH2 X 86148458 86832604 N . N Y 0.47503921 79.52769578 0.859033207 19.6 . . DACT2 6 168292830 168319754 N Viable N Y . . . . . . DACT3 19 46647612 46661138 N Viable N Y . . . . . . DAGLA 11 61680433 61747001 N . N Y -1.941166528 1.788504949 0.953148342 14.5 . . DAGLB 7 6409126 6484190 N . N Y 0.019570635 51.05631765 1.65E-06 81.7 . . DALRD3 3 49015488 49022293 N . N N -0.645938225 15.50037622 1.85E-05 76.5 . . DAO 12 108858932 108901043 N . N N 0.29496479 70.19737223 9.26E-15 96.7 DM {Schizophrenia}, 181500 (2) DAOA 13 105465867 105491034 N . N N 0.181312488 63.27487411 0.008045246 55.9 DP {Schizophrenia}, 181500 (2) DAP 5 10679230 10761272 N . N Y 0.213088965 65.23702032 0.000324904 68.4 . . DAPK1 9 87497228 87708633 N Viable N Y -1.864930071 2.002662499 0.999700496 4.6 DM . DAPK2 15 63907036 64072033 N . N N 0.456356165 78.6189732 0.000134613 71 . . DAPL1 2 158795317 158862958 N . N N 0.661519885 85.95821034 0.000268263 69 . . DAPP1 4 99816833 99870154 N . N Y -0.154562494 38.40365804 0.18349368 39.2 DM? . DARS 2 135906677 135986100 N . N N -0.33911414 27.30219367 0.000611999 66.4 DM Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3) DAW1 2 227871054 227924344 N . N Y 0.682408952 86.50228628 0.000785948 65.6 . . DAZ1 Y 23129355 23199094 N . N N . . . . DM . DAZ2 Y 23219434 23291356 N . N N . . . . DM . DAZ3 Y 24763069 24813492 N . N N . . . . . . DAZ4 Y 24833820 24907040 N . N N . . . . . . DAZAP2 12 51238292 51271362 N . N N 0.340790619 72.91775192 0.52754374 29.2 . . DAZL 3 16586792 16670306 N . N Y -0.068201255 44.52161834 0.961607976 13.8 DM {Spermatogenic failure, susceptibility to} (3) DBF4 7 87876216 87909541 N . N N 0.277239383 69.12658448 0.998167682 6.8 . . DBF4B 17 44708608 44752264 N . N N 0.181614038 63.32696649 4.43E-08 87.1 DM? . DBNDD1 16 90004865 90020128 N . N N -0.243641967 32.83556173 0.000234996 69.3 . . DBNDD2 20 45406057 45410610 N Viable N Y . . 0.050608864 46.9 . . DBP 19 48630030 48637438 N . N Y 0.132467594 59.58789142 0.820194275 21 . . DBR1 3 138161012 138174949 N . N N -0.248121003 32.57509984 8.71E-05 72.3 . . DBX2 12 45014672 45051099 N . N N -0.000674037 49.38936158 4.42E-08 87.2 . . DCAF10 9 37800502 37867666 N Viable N Y -0.159194457 38.09110378 0.967142661 13.3 . . DCAF11 14 24114195 24125242 N . N N 0.34476668 73.13769752 0.071451319 45 . . DCAF12 9 34086387 34127399 N . N N -0.055913898 45.41297679 0.003485564 59.7 . . DCAF12L1 X 126549383 126552851 N . N N -0.383328502 25.24743879 0.80516316 21.4 . . DCAF12L2 X 126164531 126165951 N . N N 0.263039301 68.2178619 0.162975822 40.1 . . DCAF13 8 103414714 103443453 N . N N 0.277391673 69.1439486 6.93E-05 72.9 DM? . DCAF15 19 13952492 13961449 N . N N -0.71986195 13.41668114 0.995060212 8.4 . . DCAF16 4 17800655 17810758 N . N N -0.076661182 43.91387394 0.00409866 59 . . DCAF17 2 171434217 171485052 N . N N -0.524930204 19.22208717 0.000284985 68.8 DM Woodhouse-Sakati syndrome, 241080 (3) DCAF4 14 72926332 72959703 N . N N 1.074654463 93.69103432 0.003645184 59.5 DM? . DCAF4L1 4 41981696 41986467 N . N N -0.359862201 26.32401459 0.851426397 19.9 . . DCAF4L2 8 87870743 87874068 N . N N -0.256580891 32.10626845 0.001649444 62.7 . . DCAF5 14 69050881 69153150 N . N N -1.049061373 7.223476298 0.999968932 3 . . DCAF6 1 167935783 168075843 N . N N -0.564057396 17.79822886 0.996908923 7.6 . . DCAF7 17 63550461 63594266 N . N N . . 0.875048579 18.9 . . DCAF8 1 160215715 160262531 N . N N -0.29042075 30.03993749 0.999730107 4.5 . ?Giant axonal neuropathy 2, autosomal dominant, 610100 (3) DCAF8L1 X 27977993 27981355 N . N N 0.557724031 82.72269491 0.119165931 42.2 . . DCAF8L2 X 27590382 27748821 N . N N 0.408319078 76.25166406 0.575393469 28.1 . . DCAKD 17 45023340 45061109 N . N N 0.57162449 83.15679806 0.029386085 49.8 DM? . DCANP1 5 135444214 135447348 N . N N . . . . . . DCBLD1 6 117453817 117569858 N . N N -0.369126321 25.91885165 8.21E-05 72.5 . . DCBLD2 3 98795941 98901689 N . N Y 0.438630851 77.81443538 0.000553237 66.7 DM? . DCD 12 54644591 54648493 N . N N 0.230008154 66.23835157 0.003610671 59.5 . . DCDC1 11 30830369 31369810 N . N N -0.237899627 33.20599641 9.13E-05 72.2 . . DCDC2 6 24171756 24358052 N . N Y 0.160867203 61.83943972 1.05E-05 77.9 DP Nephronophthisis 19, 616217 (3); ?Deafness, autosomal recessive 66, 610212 (3) DCDC2B 1 32209094 32216196 N Viable N Y 0.58199694 83.58511316 8.88E-08 86.2 . . DCDC2C 2 3703592 3847408 N . N Y . . . . . . DCHS2 4 154232037 154491716 N . N N 2.405299251 99.1028535 7.25E-28 99.6 . . DCK 4 70992538 71030914 N . N Y 0.196318636 64.16623256 0.390659945 33 FP . DCLK1 13 35768652 36131306 N . N Y -1.159047258 5.996411414 0.961271824 13.8 DFP . DCLK2 4 150078274 150257457 N . N N -0.123289027 40.56838572 0.966310095 13.4 . . DCLK3 3 36712422 36739861 N . N N -0.029426144 47.35197083 0.439315818 31.7 . . DCLRE1A 10 113834725 113854383 N . N Y 0.353533797 73.61231695 4.68E-08 87.1 DM? . DCLRE1C 10 14897359 14954432 N . N Y -0.548094539 18.29021242 0.002869357 60.6 DM Severe combined immunodeficiency, Athabascan type, 602450 (3); Omenn syndrome, 603554 (3) DCN 12 91140484 91183123 N . N Y -0.384285668 25.21271054 0.457565653 31.2 DM Corneal dystrophy, congenital stromal, 610048 (3) DCP1A 3 53283428 53347610 N . N N . . 0.943913888 15.3 . . DCP1B 12 1946054 2004535 N . N N 0.455550929 78.57845691 5.32E-07 83.6 DP . DCST1 1 155033824 155050930 N . N N -0.244143247 32.8181976 3.89E-15 96.9 . . DCST2 1 155018520 155033781 N . N N 1.544057783 97.20437576 1.46E-09 90.8 . . DCSTAMP 8 104339087 104356689 N . N Y 0.518294668 81.20622793 0.001345266 63.6 . . DCT 13 94436808 94479682 N Viable N Y -0.106369495 41.71441801 6.55E-12 94.5 . . DCTD 4 182890060 182917936 N . N N -0.252102165 32.32621404 1.64E-05 76.8 FP . DCTN2 12 57530102 57547331 N . N N 0.17476603 62.85234705 0.996367311 7.8 . . DCTN3 9 34613545 34620523 N . N N 0.240380673 66.89818834 0.020223962 51.6 . . DCTN4 5 150708440 150759109 N . N N -0.651527147 15.34409909 0.953389998 14.4 DP . DCTN6 8 30156297 30183640 N . N N 0.004915377 49.86976906 0.026238399 50.3 . . DCTPP1 16 30423619 30430075 N . N N 0.453338311 78.48584824 0.184698214 39.1 . . DCUN1D1 3 182938074 182985953 N . N N -0.065482771 44.7241998 0.990513001 9.8 . . DCUN1D2 13 113455819 113490952 N . N N -0.27924293 30.68241014 9.91E-05 71.9 . . DCUN1D3 16 20854925 20900384 N . N N -0.288660263 30.16727441 0.898154103 17.8 . . DCUN1D4 4 51843000 51916837 N . N N -0.136685385 39.64229901 0.160650286 40.1 . . DCUN1D5 11 103062076 103092215 N . N N 0.003001751 49.6961278 0.97199487 12.8 . . DCXR 17 82035136 82037732 N Viable N Y 0.414865996 76.60473462 3.47E-05 74.8 DM [Pentosuria], 260800 (3) DDA1 19 17309518 17323301 N . N N 0.015137522 50.6627308 0.893417442 18 . . DDAH2 6 31727038 31730617 N . N N -0.130139339 40.0821902 0.842139471 20.2 DFP . DDB2 11 47214465 47239240 N . N Y -0.442395976 22.60809168 0.005117907 58 DM Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3) DDHD1 14 53036745 53153282 N . N Y -0.912082792 9.353475719 0.968458214 13.2 DM Spastic paraplegia 28, autosomal recessive, 609340 (3) DDHD2 8 38225218 38275558 N . N Y -0.613859382 16.36858251 3.10E-08 87.6 DM Spastic paraplegia 54, autosomal recessive, 615033 (3) DDI1 11 104036580 104039188 N . N N 0.522927841 81.36829311 5.48E-06 79.4 . . DDI2 1 15617500 15669044 N . N N -0.332721412 27.59738381 0.941088127 15.5 . . DDIAS 11 82899975 82958277 N . N N . . . . . . DDIT3 12 57516588 57520517 N Viable N Y -0.077618099 43.83284135 0.515502017 29.5 . Myxoid liposarcoma, 613488 (1) DDIT4 10 72273920 72276036 N . N Y -0.181703531 36.63251722 0.019495468 51.8 . . DDIT4L 4 100185870 100190782 N . N N 0.150343606 61.02332581 0.000548864 66.8 . . DDN 12 48995149 48999309 N . N N -0.539784071 18.5911906 0.986679784 10.7 . . DDO 6 110391771 110415562 N . N Y 1.53336136 97.12913121 3.15E-11 93.7 . . DDR1 6 30876421 30900156 N . N Y -1.050830532 7.206112172 0.026477857 50.3 DP . DDR2 1 162631373 162787400 N . N Y -0.193535266 35.90901198 0.990992372 9.7 DM Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3) DDRGK1 20 3190350 3204685 N . N N 0.365212869 74.13902877 0.000149759 70.6 FTV . DDT 22 23971365 23980469 N . N N . . 0.412925624 32.4 . . DDTL 22 23966901 23972532 N . N N . . 0.416727572 32.3 . . DDX1 2 15591178 15631111 N . N N -0.700222136 13.91445274 0.998606607 6.4 . . DDX10 11 108665025 108940930 N . N N -0.049870415 45.77183539 5.42E-11 93.3 . . DDX18 2 117814650 117832379 N . N N 0.440544747 77.91283209 0.839996435 20.3 . . DDX19A 16 70299224 70373383 N . N N -0.624385828 16.01551195 0.923061309 16.5 . . DDX19B 16 70289663 70335283 N . N N -0.27637172 30.86762748 0.03571178 48.9 . . DDX23 12 48829764 48852842 N . N N -1.664704402 2.587254732 0.999558303 5 . . DDX24 14 94048291 94081245 N . N N 0.564579113 82.87897204 0.221392665 38 . . DDX25 11 125903376 125928829 N . N Y -0.480868635 20.95849974 4.23E-09 89.8 DP . DDX26B X 135520659 135582510 N . N N -0.08305528 43.36400996 0.999847761 4.1 . . DDX28 16 68021274 68023442 N . N N -0.003241475 49.17520403 0.034893731 49 . . DDX31 9 132592997 132670401 N . N N 0.405098119 76.10117497 2.76E-06 80.7 . . DDX39A 19 14408819 14419383 N . N N -0.389874437 24.9580367 0.843485807 20.1 . . DDX39B 6 31530219 31542448 N . N N -0.048562831 45.92232448 0.997728044 7.1 DFP . DDX3X X 41333348 41364472 N . N N -0.318672489 28.34982925 0.998930065 6 FTV Mental retardation, X-linked 102, 300958 (3) DDX3Y Y 12904108 12920478 N . N N . . 0.77309953 22.5 DM . DDX4 5 55738017 55817157 N . N Y -0.450703279 22.237657 0.998516038 6.5 . . DDX42 17 63773603 63819317 N . N N -1.506958138 3.316548012 0.999995784 2.2 . . DDX43 6 73394748 73417569 N . N N -0.229287694 33.77322452 6.82E-05 73 . . DDX46 5 134758771 134855133 N . N N -1.089598905 6.673612317 0.999997754 2 . . DDX47 12 12813316 12829981 N . N N 0.001391072 49.59773109 1.14E-08 88.8 DM? . DDX49 19 18919675 18928633 N . N N 0.099886544 57.20321815 3.24E-10 92.1 . . DDX50 10 68901278 68946847 N . N N -0.769665733 12.20698038 0.000758121 65.7 . . DDX52 17 37609739 37643464 N . N Y 0.296072862 70.26682873 1.44E-10 92.7 . . DDX53 X 22999961 23003589 N . N N 0.478865545 79.695549 0.825398953 20.8 DM . DDX54 12 113157174 113185479 N . N N 0.704426716 86.9884818 1.04E-06 82.5 . . DDX56 7 44565417 44575051 N . N N -0.289311826 30.11518203 3.52E-06 80.2 . . DDX59 1 200623896 200669969 N . N N 0.21625851 65.43381374 0.001077915 64.4 . Orofaciodigital syndrome V, 174300 (3) DDX6 11 118747766 118791149 N . N N -0.393703195 24.72072698 0.998985996 5.9 . . DDX60 4 168216293 168318807 N . N N -1.657513418 2.627771025 3.67E-10 92 . . DDX60L 4 168356735 168537786 N . N N 0.352094546 73.49076807 8.17E-30 99.7 . . DEC1 9 115141818 115402644 N . N N 0.372568852 74.5441917 0.000209449 69.7 DFP Esophageal squamous cell carcinoma, 133239 (1) DECR1 8 90001405 90052092 N . N Y -0.049367758 45.85286797 1.67E-05 76.8 . . DECR2 16 401826 412487 N . N N 0.825929637 89.67413324 3.47E-09 90 . . DEDD 1 161120974 161132688 N . N Y -0.242684848 32.87607802 0.86950321 19.1 . . DEDD2 19 42198598 42220140 N . N N 0.334243918 72.52995312 0.284523204 36.1 . . DEF6 6 35297852 35321771 N . N Y 0.452529749 78.4395439 0.976824149 12.2 . . DEF8 16 89947925 89968060 N . N N -0.4732126 21.32314638 0.389991488 33 . . DEFA1 8 6977649 6980080 N . N N . . . . . . DEFA1B 8 6996766 7018289 N . N N . . . . . . DEFA3 8 6996837 7018301 N . N N . . 0.489152997 30.3 . . DEFA4 8 6935822 6938338 N . N N 0.596856816 84.01342826 0.271968353 36.4 . . DEFA5 8 7055304 7056734 N . N N 0.505861042 80.68530416 0.000100681 71.8 . . DEFA6 8 6924693 6926076 N . N N -0.078575026 43.76338485 0.00438946 58.7 . . DEFB103A 8 7881204 7882664 N . N N . . . . . . DEFB103B 8 7428888 7430348 N . N N . . . . . . DEFB104A 8 7836471 7841242 N . N N 0.872576171 90.6349482 0.519473453 29.5 . . DEFB104B 8 7470308 7475082 N . N N . . . . . . DEFB105A 8 7821966 7823889 N . N N . . 0.436248235 31.8 . . DEFB105B 8 7487669 7489593 N . N N . . . . . . DEFB106A 8 7825172 7829053 N . N N 0.401625817 75.89859351 0.409307652 32.5 . . DEFB106B 8 7482504 7486400 N . N N 0.462608295 78.94310355 . . . . DEFB107A 8 7811720 7815716 N . N N . . . . . . DEFB107B 8 7495846 7509311 N . N N . . . . . . DEFB108B 11 71833200 71837710 N . N N 0.601492401 84.14076518 0.02354854 50.8 . . DEFB110 6 50009138 50021981 N . N N 0.299449341 70.47519824 0.033222191 49.2 . . DEFB112 6 50043575 50048651 N . N N 0.352927885 73.57180066 4.67E-05 74.1 . . DEFB113 6 49968677 49969625 N . N N 0.183076334 63.39063495 0.000538841 66.8 . . DEFB114 6 49960249 49964105 N . N N 0.190579485 63.80158592 0.162703129 40.1 . . DEFB115 20 31257664 31259632 N . N N 0.139014096 60.0972391 0.033715286 49.1 . . DEFB116 20 31303212 31308585 N . N N 0.284443026 69.58383979 0.001628841 62.7 . . DEFB118 20 31368618 31373923 N . N N 0.404494149 76.04329455 0.089118876 43.8 . . DEFB119 20 31377164 31390603 N . N N 0.922375556 91.54945882 0.058626512 46.1 . . DEFB121 20 31404845 31412838 N . N N 0.001088113 49.55142675 0.031538297 49.5 . . DEFB123 20 31440519 31450257 N . N N 0.076119241 55.36840887 0.006369854 57 . . DEFB124 20 31465506 31476757 N . N N 0.356606194 73.78595821 0.187335649 39.1 . . DEFB125 20 87250 97094 N . N N 0.102455237 57.40579962 0.000941817 65 . . DEFB126 20 142369 145751 N . N Y 0.685941771 86.54859061 0.00072303 65.9 FP . DEFB127 20 157470 159163 N . N N 0.48703021 79.96758697 7.42E-06 78.8 . . DEFB128 20 187853 189681 N . N N 0.555516228 82.64166233 0.560121292 28.4 . . DEFB129 20 227258 229886 N . N N 0.580894119 83.51565665 0.008710345 55.5 . . DEFB130 8 12310962 12318316 N . N N . . . . . . DEFB131 4 9444534 9450514 N . N N 0.23846774 66.7534873 0.157398012 40.3 . . DEFB132 20 257736 261096 N . N N 1.04148133 93.28587139 0.006474774 56.9 . . DEFB133 6 49946101 49949444 N . N N . . . . . . DEFB134 8 11993174 11996312 N . N N 0.100541925 57.24952249 0.032237341 49.3 . . DEFB135 8 11982321 11984590 N . N N 0.154020328 61.30693986 1.32E-06 82.2 . . DEFB136 8 11973937 11974599 N . N N 0.009548021 50.25756786 0.034000099 49.1 . . DEFB4A 8 7894629 7896711 N . N N . . 0.399812614 32.8 DP . DEFB4B 8 7414860 7416863 N . N N . . . . . . DEGS2 14 100143957 100160163 N . N N 0.156083554 61.48058112 0.005864274 57.3 . . DEK 6 18223868 18264823 N . N Y -0.610336728 16.45540314 0.102359187 43 . Leukemia, acute nonlymphocytic (2) DENND1A 9 123379654 123930152 N . N N -0.858458862 10.4011113 0.904475401 17.6 . . DENND1B 1 197504748 197775696 N . N N -0.564360358 17.79244082 0.636578248 26.4 . . DENND1C 19 6467207 6482557 N Viable N Y 1.427495467 96.5329629 0.036005999 48.8 . . DENND2A 7 140518420 140673993 N . N N -0.1801432 36.71354981 0.97223128 12.8 . . DENND2C 1 114582848 114670422 N . N N 0.571124702 83.11628176 1.70E-07 85.4 . . DENND2D 1 111187174 111204535 N . N N -0.302555896 29.33379638 1.03E-05 78 . . DENND3 8 141117278 141195808 N . N N -1.004583993 7.796492447 0.017173033 52.4 . . DENND4A 15 65658046 65792293 N . N N -1.066656595 6.980378538 0.001354621 63.5 . . DENND4B 1 153929501 153946696 N . N N -1.856578873 2.020026625 0.999987069 2.7 . . DENND5A 11 9138825 9265390 N . N N -2.166352473 1.33703768 0.991775356 9.5 DM? . DENND5B 12 31382223 31591097 N . N N -1.020958787 7.611275106 0.999945504 3.3 . . DENND6A 3 57625457 57693089 N . N N -0.486457463 20.70961394 0.852272523 19.8 . . DENND6B 22 50309030 50327060 N . N N -0.326978896 27.91572611 0.031020348 49.5 . . DEPDC1 1 68474152 68497221 N . N N -0.898988059 9.608149563 3.30E-07 84.4 . . DEPDC1B 5 60596912 60700190 N . N N -0.892591249 9.729698443 2.29E-05 75.9 . . DEPDC4 12 100203669 100267079 N . N N -0.087839602 42.97621115 4.10E-09 89.8 . . DEPDC7 11 33015864 33033582 N . N N 0.097973006 57.00063668 1.25E-05 77.5 . . DEPTOR 8 119873717 120050913 N . N N 1.063323503 93.54054523 0.000777356 65.6 . . DERA 12 15911172 16037282 N . N N -0.091667236 42.70417318 0.03407648 49 . . DERL3 22 23834503 23839128 N . N Y 0.840791109 90.0272038 0.000238218 69.2 . . DES 2 219418377 219426739 N . N Y 0.323063788 71.95114893 0.003082434 60.2 DM Myopathy, myofibrillar, 1, 601419 (3); Cardiomyopathy, dilated, 1I, 604765 (3); Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3); ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3) DESI1 22 41598028 41621096 N . N N 0.010504826 50.32702437 0.093722478 43.5 . . DESI2 1 244652935 244709033 N . N Y -0.005458152 49.05944319 0.915084441 17 DM? . DET1 15 88511559 88546675 N . N N -1.115786296 6.407362389 0.542030762 28.8 . . DEXI 16 10928891 10942460 N . N N -0.043930449 46.31591133 0.453687572 31.3 . . DFFA 1 10456522 10472526 N . N Y 0.202058361 64.50772704 0.000218371 69.6 . . DFFB 1 3857267 3885429 N . N Y 0.051041541 53.45835504 5.09E-05 73.8 . . DFNA5 7 24698353 24758113 N . N Y 0.296072862 70.26682873 1.22E-05 77.6 DM Deafness, autosomal dominant 5, 600994 (3) DFNB31 9 114402080 114505450 N . N Y 1.63524758 97.66163107 0.011088497 54.5 DM Deafness, autosomal recessive 31, 607084 (3); Usher syndrome, type 2D, 611383 (3) DFNB59 2 178451436 178461390 N . N N -0.027815612 47.43879146 1.07E-05 77.9 DM Deafness, autosomal recessive 59, 610220 (3) DGAT1 8 144314584 144326910 N . N Y -0.170220531 37.39653875 2.90E-10 92.2 DM ?Diarrhea 7, 615863 (3) DGAT2L6 X 70177483 70205545 N . N N 0.030294875 51.83191526 3.37E-08 87.5 DM? . DGCR14 22 19130279 19144684 N . N N -0.380305159 25.44423222 9.98E-06 78.1 DM? . DGCR2 22 19036282 19122454 N Viable N Y -0.514404546 19.65619031 0.001095938 64.3 DM? . DGCR6 22 18906028 18914238 N . N N 0.472169912 79.41193494 7.62E-07 83 DM? . DGCR6L 22 20314276 20320080 N . N N 0.037797903 52.3759912 0.128574001 41.6 . . DGKA 12 55927319 55954027 N . N Y -0.898180758 9.631301731 0.999250949 5.6 . . DGKB 7 14145049 14974777 N . N N -0.837196214 10.83521445 0.669214094 25.5 . . DGKE 17 56834099 56869567 N . N Y -0.738695505 12.9420617 0.000684088 66 DM Nephrotic syndrome, type 7, 615008 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3) DGKG 3 186105668 186362237 N . N N -0.040453851 46.5879493 5.44E-06 79.4 . . DGKH 13 42040036 42256578 N . N N 0.286963286 69.72854083 0.8181238 21 . . DGKI 7 137381037 137847092 N . N N -1.337081488 4.427852058 0.738016172 23.5 . . DGKK X 50365409 50470738 N . N N . . . . . . DGKQ 4 958887 986895 N Viable N Y -1.010445004 7.71545986 0.001194024 64 . . DGKZ 11 46332905 46380554 N . N Y 0.377802509 74.81622967 0.998142634 6.8 . . DGUOK 2 73926826 73958961 N . N N 0.130704421 59.46634254 0.368434605 33.7 DM Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) DHDDS 1 26432282 26471294 N . N N 0.123201392 58.99751114 0.704700923 24.5 DM Retinitis pigmentosa 59, 613861 (3) DHDH 19 48933682 48944969 N . N N 0.886914013 90.88962204 3.49E-06 80.3 FTV . DHFRL1 3 94047836 94063389 N . N N -0.039146033 46.66319384 0.102597563 42.9 . . DHH 12 49089421 49094819 N . N Y -0.206126746 35.13920241 0.259714235 36.8 DM 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3); 46XY sex reversal 7, 233420 (3) DHPS 19 12675717 12681902 N . N N -0.718099444 13.46298547 0.003452152 59.8 . . DHRS1 14 24290598 24299833 N . N N -0.389874437 24.9580367 2.41E-10 92.3 . . DHRS11 17 36591798 36600806 N . N N -0.166697481 37.63384847 0.031561334 49.4 . . DHRS12 13 51767993 51804157 N . N N 0.872717176 90.64652428 0.007257764 56.4 . . DHRS13 17 28897781 28903071 N . N N 0.21706442 65.48590612 0.00023405 69.3 . . DHRS2 14 23630115 23645639 N . N Y 1.465821154 96.80500087 4.75E-06 79.6 . . DHRS4 14 23953586 23969279 N . N Y 1.849523581 98.30410372 0.121200513 42 . . DHRS4L2 14 23969874 24006408 N . N N 1.455447332 96.73554437 0.357376762 34 . . DHRS7 14 60144120 60169856 N . N N 0.163586571 62.05938531 1.22E-05 77.5 . . DHRS7C 17 9771434 9791297 N . N N 0.966584727 92.26717601 1.12E-06 82.4 . . DHRS9 2 169064789 169096167 N . N N 0.459076404 78.76946229 2.61E-07 84.7 . . DHRSX X 2219516 2502805 N . N N 0.763033015 88.39497598 0.00645955 56.9 . . DHTKD1 10 12068972 12123225 N . N N -0.746720095 12.71632807 1.98E-16 97.6 DM 2-aminoadipic 2-oxoadipic aciduria, 204750 (3); ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3) DHX15 4 24517441 24584550 N . N N -0.957405629 8.612606355 0.999997156 2 . . DHX16 6 30653119 30673037 N . N N -0.533897786 18.8400764 2.01E-07 85.2 DP . DHX32 10 125836337 125896436 N . N N -0.029426144 47.35197083 6.97E-07 83.1 . . DHX34 19 47349281 47382704 N . N N -0.08884967 42.87781444 2.88E-08 87.7 . . DHX35 20 38962299 39039723 N . N N -0.425174275 23.33159692 9.69E-11 93 . . DHX37 12 124946825 124989122 N . N N 1.210386576 95.12646872 0.978475418 12 FTV . DHX38 16 72093562 72112912 N . N N -1.978580097 1.707472362 1.04E-06 82.5 . . DHX40 17 59565525 59608345 N Viable N Y -1.213489004 5.446547433 0.996354247 7.8 . . DHX57 2 38797729 38875934 N . N N -0.697611045 13.98969729 4.42E-08 87.2 . . DHX8 17 43483865 43544463 N . N N -1.661689773 2.604618857 0.934509015 15.9 . . DIABLO 12 122207662 122227534 N . N Y 0.229200645 66.1746831 0.000889965 65.2 DM Deafness, autosomal dominant 64, 614152 (3) DIAPH1 5 141515016 141619055 N . N Y -0.703751826 13.82184407 0.267109674 36.6 DM Deafness, autosomal dominant 1, 124900 (3) DIAPH2 X 96684663 97604997 N . N Y -0.68521557 14.38328413 0.9991191 5.7 DM Premature ovarian failure, 300511 (3) DIEXF 1 209828007 209857565 N . N N 0.391851489 75.4702784 0.04923486 47.1 . . DIMT1 5 62387254 62403939 N . N N -0.187292531 36.30259883 1.47E-05 77.1 . . DIO1 1 53891239 53911086 N . N Y 0.143797178 60.51397812 0.271104149 36.4 FP . DIO2 14 80197527 80387757 N . N Y -0.024139966 47.63558488 0.217796807 38.1 DFP . DIP2A 21 46458899 46569852 N Viable N Y -1.92402988 1.829021242 0.726099074 23.9 DM? . DIP2B 12 50504985 50748667 N . N Y -2.505978539 0.960814956 0.999668382 4.7 DM Mental retardation, FRA12A type, 136630 (3) DIP2C 10 274190 689743 N . N N -4.044009001 0.196793425 0.999999838 1.2 DM? . DIRAS1 19 2714567 2721418 N . N N -0.078575026 43.76338485 0.623341671 26.8 . . DIRAS2 9 90609832 90643104 N . N N -0.291531924 29.91838861 0.327172252 34.9 . . DIRAS3 1 68045962 68051631 N . N N -0.357145068 26.46871563 0.037239176 48.6 . . DIRC1 2 188734155 188790104 N . N N 0.365065607 74.12745268 0.022258844 51.1 . . DIRC2 3 122794795 122881139 N . N N -0.426432699 23.27950454 6.80E-06 79 DM Renal cell carcinoma, 144700 (2) DIRC3 2 217284019 217756593 N . N N . . . . DM . DIS3L 15 66293217 66333898 N . N N 0.444528588 78.0806853 1.29E-10 92.8 . . DIS3L2 2 231961245 232344350 N . N N -0.617390553 16.25860971 0.863517182 19.4 DM Perlman syndrome, 267000 (3) DISC1 1 231626815 232041272 N . N Y 0.832781819 89.85356254 0.019709884 51.8 DM {Schizophrenia, susceptibility to}, 604906 (3); {Schizoaffective disorder, susceptibility to}, 181500 (3) DISP2 15 40358235 40378639 N . N N 0.016198627 50.72061122 0.016251164 52.7 . . DIXDC1 11 111927144 112022584 N Viable N Y 0.027424541 51.61775771 4.27E-06 79.8 . . DKC1 X 154762742 154777689 N . N Y -0.304623579 29.21803554 0.998900173 6 DM Dyskeratosis congenita, X-linked, 305000 (3) DKFZp313A047 11 118025369 118029863 N . N N . . . . . . DKFZp434P228 5 98792863 98795766 N . N N . . . . . . DKK2 4 106921802 107283806 N . N Y 0.280765669 69.35810615 0.864037652 19.3 DP . DKK3 11 11963106 12009769 N . N Y -0.009939149 48.69479655 1.89E-05 76.4 DP . DKK4 8 42374068 42377232 N Viable N Y 0.106281943 57.6662615 0.02137976 51.3 DM? . DKKL1 19 49361783 49375116 N . N Y 1.20766407 95.09174046 0.000105208 71.7 . . DLAT 11 112024814 112064390 N . N N -0.083860557 43.30034149 6.68E-06 79 DM Pyruvate dehydrogenase E2 deficiency, 245348 (3) DLEC1 3 38039205 38124025 N Viable N Y 0.588100985 83.78190658 6.45E-18 98.1 . Lung cancer, 211980 (1); Esophageal cancer, 133239 (1) DLEU1 13 50082171 50723236 N . N N . . . . . . DLEU7 13 50711008 50843939 N . N N . . 0.031020475 49.5 DM . DLG2 11 83455012 85627922 N . N Y -1.801422445 2.193667882 0.67354537 25.4 DM? . DLG3 X 70444861 70505490 N . N Y -0.587827164 17.15575621 0.999544465 5.1 DM Mental retardation, X-linked 90, 300850 (3) DLG5 10 77790791 77926526 N . N Y -0.881290679 9.920703826 0.999998542 1.8 DP . DLGAP1 18 3496032 4455335 N . N N -2.164566437 1.354401806 0.993045514 9.1 DM? . DLGAP2 8 1501366 1708476 N . N N -0.768275956 12.25328471 0.950397326 14.7 DM . DLGAP3 1 34865436 34929585 N . N Y -1.170079336 5.89222666 0.999638516 4.8 DM . DLGAP4 20 36306336 36528637 N . N N -1.006624573 7.773340279 0.991952626 9.5 . . DLGAP5 14 55148112 55191678 N . N Y 0.497851981 80.3727499 1.74E-05 76.6 . . DLK2 6 43450352 43456632 N . N N 0.193598667 64.04468368 0.685774158 25 . . DLST 14 74881891 74903745 N . N N -0.780997286 11.9754587 0.950393652 14.7 . . DLX1 2 172084740 172089677 N . N Y -0.116090248 41.04300515 0.926719408 16.3 . . DLX4 17 49968970 49974959 N . N N 0.017202414 50.84794814 0.00519723 57.9 . . DMC1 22 38518949 38570286 N . N Y -0.347727532 26.88545465 0.180759801 39.3 DM . DMGDH 5 78997606 79236038 N . N N 0.052301478 53.53359958 8.90E-17 97.7 DM Dimethylglycine dehydrogenase deficiency, 605850 (3) DMKN 19 35497220 35513658 N . N N 0.687192474 86.58331886 3.47E-09 90 . . DMP1 4 87650307 87664361 N . N Y 1.071783895 93.66209411 0.000223014 69.5 DM . DMPK 19 45769717 45782552 N . N Y -0.272392294 31.15124153 0.033081179 49.2 DM Myotonic dystrophy 1, 160900 (3) DMRT1 9 841690 969090 N . N Y -0.213476698 34.71088731 0.68359281 25.1 DM . DMRT3 9 976964 991731 N . N Y 0.32608497 72.09584997 0.001373452 63.5 . . DMRTA1 9 22446841 22455740 N . N Y 0.022943191 51.29941541 8.39E-05 72.4 . . DMRTB1 1 53459399 53467488 N . N N 0.234790597 66.51038954 0.589036511 27.7 . . DMRTC1 X 72872025 72943814 N . N N . . 0.43895356 31.7 . . DMRTC1B X 72777009 72848802 N . N N . . . . . . DMRTC2 19 41844743 41852333 N . N Y 0.292094913 70.04688314 0.726527694 23.8 . . DMTN 8 22048995 22082527 N . N Y -0.63939225 15.70295769 0.96176259 13.8 . . DMWD 19 45782947 45792802 N . N N -0.465709488 21.64727673 0.007902113 56 . . DMXL1 5 119037772 119249138 N . N N -1.267482717 4.960351913 0.999998843 1.8 DM? . DNAAF1 16 84145287 84178767 N . N N 2.355768452 99.03918504 5.41E-06 79.4 DM . DNAAF3 19 55158661 55166722 N . N N 0.633712862 85.17103664 3.22E-06 80.4 DM Ciliary dyskinesia, primary, 2, 606763 (3) DNAAF5 7 726701 786475 N . N N . . . . . . DNAH1 3 52316319 52400491 N . N Y 2.478570418 99.16652197 4.42E-20 98.7 . . DNAH10 12 123762188 123936206 N . N N 1.158038772 94.5997569 4.14E-37 99.9 FTV . DNAH10OS 12 123926424 123934984 N . N N . . 0.013366389 53.7 . . DNAH11 7 21543215 21901839 N . N Y 3.267873792 99.6411414 . . DM Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) DNAH12 3 57293699 57544344 N . N N 0.848440048 90.17769289 0.000394166 67.8 . . DNAH14 1 224896262 225399292 N . N N . . 8.77E-06 78.4 FTV . DNAH17 17 78423697 78577394 N . N N . . . . . . DNAH2 17 7717354 7833744 N . N N -2.372351484 1.070787753 2.49E-21 98.9 . . DNAH3 16 20933111 21159441 N . N N 1.467343992 96.81657695 9.63E-51 100 . . DNAH6 2 84516455 84819589 N . N N . . 0.000223495 69.4 . . DNAH7 2 195737703 196068812 N . N N 0.593194259 83.92081959 1.04E-47 100 DM? . DNAH8 6 38715341 39030529 N . N N . . 2.09E-37 99.9 . . DNAH9 17 11598431 11969748 N . N N 0.719664039 87.42258494 1.37E-35 99.8 DM? . DNAI2 17 74274247 74314884 N . N N 0.238919593 66.78821555 4.57E-11 93.4 DM Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) DNAJA2 16 46955362 46973788 N . N N -0.446224844 22.44602651 0.985455361 10.9 . . DNAJA4 15 78264086 78282196 N Viable N Y -0.166544931 37.66857672 3.57E-05 74.8 FTV . DNAJB1 19 14514770 14529770 N . N Y -1.179644424 5.816982115 0.37215695 33.6 . . DNAJB11 3 186567403 186597203 N . N N 0.052803966 53.57411588 0.909930974 17.3 . . DNAJB13 11 73950319 73970366 N . N N 0.488132675 80.00231522 0.121954827 42 . . DNAJB14 4 99896248 99946726 N . N N -0.461231059 21.83249407 0.95625497 14.2 . . DNAJB2 2 219279267 219286900 N . N N 0.239573531 66.85188401 5.20E-06 79.5 DM Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3); ?Charcot-Marie-Tooth disease, axonal, type 2T, 616233 (3) DNAJB4 1 77979175 78017964 N . N N -0.234224724 33.42015396 0.840407621 20.3 . . DNAJB5 9 34989641 34998900 N . N N -0.159194457 38.09110378 0.491267707 30.2 . . DNAJB7 22 40859549 40862126 N Viable N Y 0.413101046 76.51212595 2.09E-11 93.9 . . DNAJB8 3 128462439 128467248 N . N N 0.231113855 66.29623198 0.047540687 47.3 . . DNAJB9 7 108569568 108574850 N . N N 0.17380942 62.79446663 0.224582946 37.8 . . DNAJC1 10 21756537 22003769 N . N N -0.461077067 21.84985819 1.42E-08 88.5 . . DNAJC10 2 182716041 182794464 N . N N -0.442093457 22.63703189 8.95E-05 72.2 . . DNAJC11 1 6634168 6701924 N . N N -0.58863046 17.126816 0.99997079 3 . . DNAJC12 10 67796665 67838166 N . N N 0.104368575 57.54471262 0.000104074 71.7 . . DNAJC13 3 132417526 132539032 N . N N -2.009281512 1.60907565 1 0.5 . Parkinson disease 21, 616361 (3) DNAJC14 12 55820960 55830824 N Viable N Y -0.371845358 25.79151473 0.999707755 4.6 . . DNAJC15 13 43023203 43114224 N Viable N Y 0.156890071 61.50952133 2.92E-07 84.6 . . DNAJC18 5 139408588 139444491 N . N N 0.26862913 68.62881287 0.005469335 57.7 . . DNAJC19 3 180983709 180989774 N . N Y 0.123051266 58.96278289 0.01440369 53.4 DM 3-methylglutaconic aciduria, type V, 610198 (3) DNAJC2 7 103312474 103344873 N . N N -0.500506623 20.165538 0.984694418 10.9 . . DNAJC22 12 49346917 49357546 N . N N 0.104519243 57.57365283 1.11E-05 77.8 . . DNAJC25 9 111631352 111654351 N . N N -0.099170261 42.1543092 0.005620635 57.6 . . DNAJC25-GNG10 9 111631386 111670229 N . N N . . 0.002778174 60.7 . . DNAJC27 2 24943636 24972094 N . N N -0.075704275 43.9775424 0.048258233 47.2 . . DNAJC28 21 33485530 33491720 N Viable N Y 0.1035625 57.4868322 2.51E-07 84.8 . . DNAJC3 13 95677139 95794989 N . N Y -0.305426803 29.16015512 0.951080562 14.6 . ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3) DNAJC30 7 73680969 73683453 N . N N 0.087599756 56.28870753 0.004798278 58.3 . . DNAJC4 11 64230278 64234286 N . N N 0.183225703 63.41957516 6.44E-06 79.1 . . DNAJC5 20 63895182 63936031 N . N Y -0.375023253 25.68154193 0.858492459 19.6 DM Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3) DNAJC5B 8 66021560 66100526 N Viable N Y 0.37735004 74.78150142 0.009677585 55.1 . . DNAJC5G 2 27275421 27281499 N Viable N Y 0.414865996 76.60473462 0.003974789 59.1 . . DNAJC7 17 41976433 42021376 N Viable N Y -0.391788739 24.87121607 0.999727953 4.5 . . DNAL1 14 73644875 73703732 N . N N 0.113634918 58.26821786 0.006401469 57 DM Ciliary dyskinesia, primary, 16, 614017 (3) DNALI1 1 37556919 37566857 N . N N -0.442395976 22.60809168 6.82E-08 86.6 . . DNASE1 16 3611728 3680143 N . N Y 1.785803208 98.15361463 1.01E-11 94.3 DM {Systemic lupus erythematosus, susceptibility to}, 152700 (3) DNASE1L1 X 154401238 154412112 N . N Y 0.319237683 71.71383921 0.061265801 45.9 . . DNASE1L2 16 2235816 2238711 N Viable N Y 0.339834225 72.85987151 2.28E-07 85 . . DNASE1L3 3 58192257 58214697 N . N Y 0.473126302 79.46402732 0.155489629 40.3 DM Systemic lupus erythematosus 16, 614420 (3) DNASE2B 1 84398532 84415018 N . N Y 0.133574517 59.72680442 3.79E-14 96.4 . . DND1 5 140670794 140673586 N . N Y . . 0.709666236 24.4 DM . DNER 2 229357629 229714558 N Viable N Y 0.126374573 59.23482086 0.78550209 22.1 . . DNHD1 11 6497260 6593758 N . N N . . 1.33E-18 98.4 . . DNLZ 9 136359480 136363789 N . N N 1.157862148 94.59396886 0.008941565 55.4 . . DNM3 1 171841498 172418466 N . N Y -0.805268966 11.44874689 0.028276991 50 FP . DNMBP 10 99875577 100009919 N . N N -0.740728535 12.85524107 1.15E-09 91 FTV . DNPEP 2 219373546 219400022 N . N N -0.23966114 33.10181166 0.000202596 69.8 . . DNPH1 6 43225629 43229484 N . N N 0.102455237 57.40579962 0.00071657 65.9 . . DNTT 10 96304396 96338564 N . N Y 0.361686411 74.00011576 8.54E-05 72.4 . . DNTTIP1 20 45791937 45811427 N . N N -0.190163599 36.15789778 0.431436688 31.9 . . DNTTIP2 1 93866283 93879918 N . N N -0.061351631 45.00781386 0.000217904 69.6 . . DOC2A 16 30005509 30023270 N . N Y 0.348442859 73.32291486 0.018553646 52.1 DM? . DOC2B 17 142789 181636 N . N Y . . 0.382719812 33.2 . . DOCK10 2 224765090 225042445 N . N N -0.770745886 12.17225213 0.02919253 49.8 . . DOCK11 X 118495898 118686163 N . N Y 0.293665186 70.09897552 0.998084519 6.9 . . DOCK2 5 169637247 170083382 N . N Y -1.064495486 7.009318747 0.999999893 1.1 . Immunodeficiency 40, 616433 (3) DOCK3 3 50675241 51384198 N . N Y -2.756529648 0.746657406 0.999999699 1.4 DM . DOCK4 7 111726110 112206411 N . N N -1.505498726 3.339700179 0.998535733 6.5 . . DOCK5 8 25184723 25418082 N . N N -0.588606514 17.13260404 0.001342686 63.6 DP . DOCK6 19 11199295 11262481 N . N N 0.725100733 87.52098165 2.83E-19 98.5 DM Adams-Oliver syndrome 2, 614219 (3) DOCK7 1 62454728 62688368 N . N Y -3.198696115 0.509347688 0.771361086 22.6 . Epileptic encephalopathy, early infantile, 23, 615859 (3) DOCK8 9 214854 465259 N . N Y -0.696068023 14.05915379 0.000135434 71 DM Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) DOCK9 13 98793487 99086625 N . N N -1.960612155 1.753776697 0.999999307 1.6 DM? . DOK1 2 74549026 74557554 N . N Y 0.003304686 49.75979626 0.016992884 52.5 . [Blood group, Dombrock], 616060 (3) DOK2 8 21908873 21913860 N . N Y 0.751852095 88.12872605 2.34E-06 81 . . DOK3 5 177501907 177511274 N . N Y 0.892654271 91.00538288 7.28E-05 72.8 . . DOK4 16 57471922 57487327 N . N N -0.236942655 33.25230075 0.19760291 38.8 . . DOK5 20 54475597 54651171 N . N N 0.123201392 58.99751114 0.043981192 47.7 . . DOK6 18 69401055 69849087 N . N N -0.41429797 23.70781964 0.458839967 31.1 . . DOLK 9 128945530 128947619 N . N N -0.429150862 23.17531979 0.057602442 46.2 DM . DOLPP1 9 129081100 129090438 N . N N -0.206126746 35.13920241 0.604058624 27.3 . . DOPEY1 6 83067666 83171350 N . N N -2.146311726 1.383342015 0.999995778 2.2 . . DOPEY2 21 36156782 36294274 N . N Y -0.092747243 42.61156451 9.61E-08 86.1 . . DPCD 10 101570560 101609668 N . N N 0.157846676 61.58476587 0.002703404 60.8 . . DPCR1 6 30940972 30954221 N . N N . . 0.140380581 41.1 . . DPEP1 16 89613308 89638456 N . N Y 0.001542562 49.60351913 0.000136493 71 . . DPEP2 16 67987394 68000586 N . N N 0.554853813 82.61272212 4.01E-05 74.5 . . DPEP3 16 67975663 67980829 N . N N 0.275325819 69.02818776 9.14E-07 82.7 . . DPF1 19 38211006 38229714 N . N N -0.566274989 17.74613648 0.98898605 10.1 . . DPF2 11 65333754 65353249 N . N Y -0.528759206 19.07738612 0.999787288 4.3 . . DPF3 14 72619296 72894116 N . N Y 0.042581773 52.76957805 0.828481786 20.7 . . DPH5 1 100989623 101026088 N . N N -0.05223834 45.61555826 0.001899435 62 . . DPH6 15 35217345 35546193 N . N N 0.524692399 81.42617353 0.002468628 61.2 . . DPH7 9 137554904 137578935 N . N N 0.335350119 72.61677375 4.38E-05 74.3 . . DPM3 1 155139891 155140595 N . N N -0.072985841 44.23221624 0.23347017 37.6 DM Congenital disorder of glycosylation, type Io, 612937 (3) DPP10 2 114442299 115845752 N Viable N Y 0.389937289 75.36609365 0.999989286 2.6 DM? . DPP3 11 66480013 66509657 N . N N -0.141820446 39.27765237 4.36E-09 89.7 DM? . DPP4 2 161992241 162074542 N . N Y -0.617536576 16.25282167 4.06E-10 91.9 DM? . DPP6 7 153887097 154894285 N . N Y . . 0.967691107 13.3 DM {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3); Mental retardation, autosomal dominant 33, 616311 (3) DPP7 9 137110542 137115177 N . N N 1.03441881 93.19326272 2.02E-15 97.1 . . DPP8 15 65442463 65517704 N . N N -0.520951132 19.44203276 0.999271313 5.6 . . DPPA2 3 109293788 109316517 N . N N -0.337353053 27.42374255 7.76E-08 86.4 . . DPPA3 12 7711454 7717559 N . N Y 0.111871637 58.12930486 0.165194336 39.9 . . DPPA5 6 73353062 73354295 N . N Y -0.035470476 46.91207964 0.000949315 64.9 . . DPRX 19 53632056 53637009 N . N N -0.01663693 48.16808474 1.14E-06 82.4 . . DPT 1 168695459 168729264 N . N Y 1.11474907 94.11934942 9.11E-05 72.2 . . DPY19L1 7 34928876 35038271 N . N N -0.521102007 19.43624472 0.142871737 40.9 . . DPY19L2 12 63558913 63668939 N . N Y 0.107541068 57.80517451 7.03E-05 72.9 DM Spermatogenic failure 9, 613958 (3) DPY19L3 19 32405543 32485895 N . N Y -0.780845438 11.99282283 0.080040472 44.5 . . DPY19L4 8 94719703 94793836 N . N N 0.728536848 87.56149795 1.51E-15 97.2 . . DPYD 1 97077743 97921049 N Viable N Y 0.533767637 81.80818429 4.19E-09 89.8 DM Dihydropyrimidine dehydrogenase deficiency, 274270 (3); 5-fluorouracil toxicity, 274270 (3) DPYS 8 104330324 104467053 N . N N -0.393549347 24.76703131 9.90E-08 86.1 DM Dihydropyrimidinuria, 222748 (3) DPYSL2 8 26514275 26658178 N . N Y -0.743480655 12.77999653 0.995558289 8.2 DP . DPYSL3 5 147390811 147510056 N . N N -0.765033447 12.30537709 0.996483174 7.7 DFP . DPYSL4 10 132186900 132205776 N . N Y -1.245119683 5.151357296 5.86E-06 79.2 . . DPYSL5 2 26847747 26950351 N . N Y -0.946072869 8.786247612 0.998332101 6.7 . . DQX1 2 74518131 74526336 N . N N -0.349336167 26.8507264 7.47E-15 96.8 . . DR1 1 93345888 93369498 N . N N 0.221548563 65.71742779 0.835491729 20.4 . . DRAM1 12 101877351 102012130 N Viable N Y -0.367520149 25.97673207 0.080700077 44.4 . . DRAM2 1 111117333 111140216 N . N N -0.000674037 49.38936158 0.001395866 63.4 . Cone-rod dystrophy 21, 616502 (3) DRAXIN 1 11691729 11725857 N . N Y 0.854987159 90.29345372 6.64E-10 91.4 . . DRC1 2 26401916 26456711 N . N N 1.253146233 95.46217515 1.30E-10 92.8 DM Ciliary dyskinesia, primary, 21, 615294 (3) DRC7 16 57694793 57731805 N . N N . . . . . . DRD2 11 113409615 113475691 N . N Y -0.577452276 17.42779418 0.733263889 23.6 DM Dystonia, myoclonic, 159900 (3) DRD3 3 114128652 114199407 N . N Y 0.058544531 53.99664294 0.010295343 54.8 DFP {Schizophrenia, susceptibility to}, 181500 (3); {Essential tremor, susceptibility to}, 190300 (3) DRD4 11 637293 640706 N . N Y . . 7.58E-06 78.8 DM Autonomic nervous system dysfunction (3); [Novelty seeking personality], 601696 (1); {Attention deficit-hyperactivity disorder}, 143465 (3) DRG1 22 31399523 31528740 N . N N -0.297120516 29.6000463 0.953443603 14.4 . . DRG2 17 18087886 18107971 N . N Y -0.465862421 21.6299126 0.148077282 40.7 . . DRICH1 22 23608452 23632321 N . N N . . . . . . DRP2 X 101219769 101264497 N . N N -0.503225097 20.03820108 0.009400215 55.2 DM? . DSC1 18 31129236 31162856 N . N Y 0.598422958 84.05973259 4.39E-08 87.2 . . DSC2 18 31058840 31102415 N . N N -0.603339807 16.62904439 0.000683302 66 DM Arrhythmogenic right ventricular dysplasia 11, 610476 (3); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3) DSCR3 21 37223420 37267919 N . N N -0.195752553 35.7874631 0.505918972 29.8 . . DSCR4 21 37951425 38121360 N . N N 0.101498578 57.33634312 0.001317005 63.7 . . DSCR8 21 38121451 38188016 N . N N . . . . FTV . DSE 6 116254173 116444860 N . N Y -0.291074804 29.95311686 0.385415297 33.1 . ?Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3) DSEL 18 67506582 67516980 N . N Y -0.195149556 35.81061527 5.16E-06 79.5 . . DSG1 18 31318089 31357029 N . N Y 0.6332263 85.13630839 0.97910346 11.9 DM Keratosis palmoplantaris striata I, AD, 148700 (3); Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) DSN1 20 36751791 36773818 N . N N -0.104759418 41.81281472 1.72E-06 81.6 . . DSPP 4 87608529 87616910 N Viable N Y . . 0.000618023 66.4 DM Dentinogenesis imperfecta, Shields type II, 125490 (3); Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3); Dentinogenesis imperfecta, Shields type III, 125500 (3); Dentin dysplasia, type II, 125420 (3) DSTN 20 17569863 17609919 N . N Y -0.179942957 36.73091393 0.759201435 22.9 . . DSTYK 1 205142505 205211566 N . N N -0.341683338 27.17485675 0.147285746 40.7 . {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 (3) DTD1 20 18567453 18763917 N . N N -0.08703502 43.03409157 0.290212859 36 . . DTD2 14 31446036 31457510 N . N N -0.050476626 45.73710714 0.001708149 62.5 . . DTHD1 4 36281622 36345756 N . N N . . . . DM? . DTNA 18 34493290 34891844 N . N Y -0.467472441 21.55466806 0.921398185 16.6 DM Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3) DTNB 2 25377198 25673647 N . N Y -0.266802755 31.46958384 0.000530412 66.9 DM . DTNBP1 6 15522801 15663058 N Viable N Y -0.265040808 31.57376859 1.34E-06 82.2 DM {Schizophrenia}, 181500 (2); Hermansky-Pudlak syndrome 7, 614076 (3) DTWD1 15 49620980 49656232 N . N N -0.233267662 33.50118655 1.41E-05 77.2 . . DTWD2 5 118837322 118988545 N . N N 0.360579228 73.94802338 2.16E-05 76 . . DTX1 12 113056709 113098028 N . N Y -1.18155876 5.782253864 0.001255918 63.8 . . DTX2 7 76461676 76505995 N . N N 0.240833594 66.92134051 0.106757916 42.8 . . DTX3 12 57604622 57609804 N . N N -0.197666633 35.6485501 0.921137255 16.7 . . DTX3L 3 122564238 122575203 N . N N -0.073487243 44.16854778 2.44E-05 75.7 . . DTX4 11 59171430 59208587 N . N N -0.707725431 13.70608323 0.594144205 27.6 . . DTYMK 2 241675742 241686991 N . N N -0.108587205 41.55814088 0.546091427 28.7 . . DUOX1 15 45129933 45165576 N . N N -0.540847573 18.53909822 1.97E-13 95.9 . . DUOX2 15 45092650 45114344 N . N N 2.812851526 99.38646756 1.90E-37 99.9 DM Thryoid dyshormonogenesis 6, 607200 (3) DUOXA1 15 45117367 45129938 N . N N -0.049216095 45.88759623 0.00010972 71.6 . . DUOXA2 15 45114321 45118421 N Viable N Y -0.105564211 41.74335822 1.50E-07 85.6 DM Thyroid dyshormonogenesis 5, 274900 (3) DUPD1 10 75037836 75058514 N . N N 0.927154384 91.64785553 1.18E-07 85.9 . . DUS1L 17 82057506 82065887 N . N N -0.433783493 23.03061874 1.53E-06 81.9 . . DUS2 16 67987746 68079320 N . N N 0.047365707 53.22683336 0.000272032 68.9 . . DUS3L 19 5784832 5791238 N . N N -0.641002831 15.65665335 2.45E-09 90.3 . . DUS4L 7 107563484 107578464 N . N N 0.061263744 54.22237657 0.000141354 70.9 . . DUSP1 5 172768090 172771195 N . N Y -0.151691433 38.58887538 0.020500202 51.5 . . DUSP10 1 221701424 221742176 N . N Y -0.347574091 26.90281878 0.49952147 30 . . DUSP11 2 73762184 73780157 N Viable N Y -0.443353128 22.55021126 9.06E-05 72.2 . . DUSP12 1 161749758 161757238 N . N N 0.23015724 66.25571569 0.003535337 59.7 . . DUSP13 10 75094432 75109221 N Viable N Y 1.234956206 95.35799039 9.99E-08 86.1 . . DUSP14 17 37489831 37513501 N . N N -0.185531789 36.42414771 0.773652009 22.5 . . DUSP15 20 31847637 31870747 N . N N . . 0.000219668 69.5 DM? . DUSP18 22 30652051 30667890 N . N N 0.325784353 72.08427389 0.061803728 45.8 . . DUSP19 2 183078559 183100005 N . N N 0.688809378 86.60647103 0.004394 58.7 . . DUSP2 2 96143166 96145440 N . N Y . . 0.791321032 21.9 . . DUSP21 X 44844004 44844888 N . N N 0.375437469 74.69468079 0.003586501 59.6 FTV . DUSP22 6 291630 351355 N . N N 0.391548194 75.45291428 0.004307071 58.8 . . DUSP23 1 159780932 159782543 N . N N . . 0.041146827 48.1 DP . DUSP26 8 33591332 33600106 N . N Y -0.288660263 30.16727441 0.003914765 59.2 . . DUSP27 1 167094045 167129165 N . N N 2.209685164 98.87133183 2.05E-15 97.1 . . DUSP28 2 240560054 240564014 N . N N . . 0.232216945 37.6 . . DUSP3 17 43766121 43778988 N Viable N Y -0.049519725 45.82392777 0.736744916 23.5 DM? . DUSP4 8 29333064 29350668 N . N Y 0.089513257 56.41025641 0.539069242 28.9 . . DUSP5 10 110497838 110511544 N . N N 0.254579622 67.73166638 0.025593878 50.4 . . DUSP7 3 52048919 52056550 N Viable N Y -0.385242872 25.15483012 0.228528647 37.7 . . DUSP8 11 1554044 1571920 N . N N . . 0.684472965 25 . . DUT 15 48331011 48343373 N . N N -0.125507302 40.39474446 0.339206865 34.6 . . DUX4 4 190173774 190185942 N . N N . . . . DM . DUXA 19 57154021 57167443 N . N N 0.111871637 58.12930486 3.06E-05 75.2 . . DVL1 1 1335276 1349350 N . N Y -0.71684682 13.47456156 0.157164972 40.3 . . DXO 6 31969810 31972292 N . N N 0.48445544 79.89234242 4.98E-10 91.8 . . DYDC1 10 80336105 80356755 N . N N -0.011047557 48.60797592 0.002065792 61.8 . . DYDC2 10 80344745 80368073 N . N N 0.428916211 77.3340279 0.02331224 50.9 . . DYM 18 49041474 49461347 N . N N -0.816449514 11.27510563 5.18E-09 89.6 DM Dyggve-Melchior-Clausen disease, 223800 (3); Smith-McCort dysplasia, 607326 (3) DYNAP 18 54587757 54599493 N . N N 0.18881556 63.69161313 0.40940293 32.5 . . DYNC1I1 7 95772506 96110322 N . N N -0.861620382 10.35480697 0.011637704 54.3 . . DYNC1LI1 3 32525971 32570874 N . N N 0.470405758 79.33090236 0.97791889 12.1 . . DYNC1LI2 16 66720893 66751798 N . N N -0.698460933 13.95496903 0.798419344 21.7 . . DYNLL2 17 58083415 58095536 N . N N 0.03764689 52.34705099 0.687802227 24.9 . . DYNLRB2 16 80540734 80550760 N . N Y 0.404494149 76.04329455 0.390767289 33 DM? . DYNLT1 6 158636474 158644739 N . N N -0.10299811 41.92278752 0.039210973 48.4 . . DYNLT3 X 37836757 37847637 N . N N 0.341599703 72.95826822 0.650718442 26 . . DYRK1B 19 39825350 39834201 N . N N -0.68521557 14.38328413 0.915927122 17 . Abdominal obesity-metabolic syndrome 3, 615812 (3) DYRK2 12 67648338 67665406 N . N N -0.959165893 8.572090062 0.979337329 11.9 . . DYRK3 1 206635536 206684419 N . N Y -0.253710318 32.23939341 0.000220922 69.5 . . DYRK4 12 4562204 4615302 N . N N 0.133725635 5.97E+01 3.80E-10 92 . . DYSF 2 71453722 71686768 N . N Y 0.423355685 77.03883776 1.00E-15 97.3 DM Muscular dystrophy, limb-girdle, type 2B, 253601 (3); Myopathy, distal, with anterior tibial onset, 606768 (3); Miyoshi muscular dystrophy 1, 254130 (3) DYTN 2 206651621 206718396 N . N N 1.183536078 94.89494704 2.80E-15 97 . . DZANK1 20 18383367 18467281 N Viable N Y 1.042880019 93.29744747 4.60E-15 96.9 . . DZIP1L 3 138061990 138115818 N . N N 0.649029949 85.57041153 6.93E-20 98.6 . . E2F1 20 33675683 33686404 N . N Y 0.235747143 66.55090583 0.955530545 14.3 . . E2F2 1 23506430 23531220 N . N Y -0.493003504 20.4838803 0.914702778 17 . . E2F5 8 85177225 85217158 N . N Y -0.396575171 24.57602593 0.026329098 50.3 . . E2F6 2 11444375 11466177 N . N Y 0.021835061 51.22417086 0.554509012 28.5 . . E2F7 12 77021247 77065580 N . N Y 0.014786452 50.61063842 0.423130676 32.2 . . E2F8 11 19224063 19241620 N . N Y -0.848230086 10.59790473 0.995041279 8.4 . . EAF2 3 121835183 121886526 N . N Y 0.190728755 63.83052613 0.000680758 66 . . EAPP 14 34515929 34539711 N . N N -0.239813643 33.09023557 2.72E-05 75.5 . . EBAG9 8 109539711 109565996 N . N Y -0.072028905 44.27852058 0.717057363 24.2 DM? . EBF1 5 158695916 159099761 N . N Y -1.130946928 6.239509174 0.996264497 7.9 . . EBF4 20 2692878 2760108 N . N N . . 0.078056999 44.6 . . EBI3 19 4229498 4237531 N . N Y 0.018159209 50.92319268 0.01959965 51.8 . . EBLN1 10 22208814 22210021 N . N N . . 6.91E-05 72.9 . . EBLN2 3 73061659 73063337 N . N N 0.525648717 81.46090178 0.086523004 44 . . EBNA1BP2 1 43164175 43270936 N . N N -0.081293491 43.49713492 2.38E-06 81 . . EBPL 13 49660723 49691475 N . N N 0.231921074 66.33674828 0.038853333 48.5 . . ECE2 3 184249650 184293031 N . N N -0.240978099 32.95132257 1.65E-17 98 . . ECH1 19 38815422 38832005 N . N N -0.092471964 42.67523297 0.004166427 58.9 . . ECHDC1 6 127288710 127343609 N . N N 0.046257695 53.10528448 6.03E-05 73.4 . . ECHDC2 1 52895910 52927212 N . N N 0.444070097 78.05753314 1.18E-07 85.9 . . ECHDC3 10 11742366 11764070 N . N N 0.33806995 72.74989871 0.000536786 66.8 . . ECHS1 10 133362480 133373689 N . N N -0.220175737 34.30572437 0.51980084 29.5 . Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) ECI1 16 2239395 2252300 N . N Y 0.239573531 66.85188401 4.20E-10 91.9 DM . ECI2 6 4115689 4135597 N . N N 0.416927285 76.69155525 3.84E-09 89.9 . . ECM2 9 92493554 92536655 N . N N 0.070983022 54.94588181 1.56E-06 81.8 DM? . ECSCR 5 139442316 139462707 N Viable N Y . . . . . . ECT2L 6 138795926 138904070 N . N N 2.169076825 98.81345141 7.34E-32 99.7 . . EDA X 69616067 70039469 Y . N Y 0.058393523 53.97927881 0.922511723 16.6 DM Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3); Tooth agenesis, selective, X-linked 1, 313500 (3) EDA2R X 66595637 66639298 N . N Y 0.459885344 78.80419054 0.136305949 41.3 DM . EDC3 15 74630558 74696292 N . N N -0.43393578 23.0248307 0.635930663 26.5 . ?Mental retardation, autosomal recessive 50, 616460 (3) EDDM3A 14 20731699 20748380 N . N N 0.528370887 81.58245066 2.79E-09 90.2 . . EDDM3B 14 20768427 20770948 N . N N 0.034927599 52.21971407 0.018512767 52.1 . . EDEM1 3 5187646 5219957 N . N N -0.593263118 16.91844649 5.60E-11 93.3 . . EDEM2 20 35115357 35147364 N . N N -0.169263725 37.45441917 0.000137533 70.9 . . EDEM3 1 184690231 184754913 N . N N -0.654096722 15.24570238 0.122702493 42 . . EDF1 9 136862119 136866286 N . N N -0.041059779 46.53585692 0.908576776 17.4 . . EDIL3 5 83940554 84384793 N . N Y -0.265997742 31.51588818 4.09E-05 74.5 DM? . EDRF1 10 125719515 125764143 N . N N . . . . . . EEA1 12 92770637 92929331 N . N N -0.89966024 9.590785437 0.697358815 24.7 DM? . EED 11 86244544 86278813 N . N Y -0.477194633 21.11477687 0.997671033 7.2 DFP . EEF1A1 6 73515750 73523797 N . N N -0.716339415 13.49192568 0.984461027 11 . . EEF1A2 20 63488013 63499315 N . N N -0.394660481 24.6686346 0.964131454 13.6 DM? Mental retardation, autosomal dominant 38, 616393 (3); Epileptic encephalopathy, early infantile, 33, 616409 (3) EEF1B2 2 206159585 206162928 N . N N -0.272697012 31.12808937 0.333347472 34.8 DM . EEF1D 8 143579697 143599541 N . N N 1.203331922 95.05122417 0.394239744 32.9 . . EEF1E1-BLOC1S5 6 8015726 8102530 N . N N . . . . . . EEF1G 11 62559601 62574086 N . N N -0.498746657 20.24078254 0.998058441 6.9 . . EEF2K 16 22206282 22288732 N . N Y 0.012067581 50.413845 8.34E-11 93.1 FTV . EEF2KMT 16 5084304 5097808 N Viable N Y . . . . . . EEFSEC 3 128153454 128408646 N . N N -0.083860557 43.30034149 0.013115288 53.8 . . EEPD1 7 36153149 36301543 N . N N -0.584803178 17.23678879 0.002657198 60.8 . . EFCAB1 8 48710789 48735311 N . N N -0.161108498 37.92903861 0.000635898 66.3 . . EFCAB10 7 105565120 105600875 N . N N . . 0.100686561 43.1 . . EFCAB11 14 89794669 89954777 N Viable N Y 0.467388591 79.20356543 0.020262273 51.6 . . EFCAB12 3 129401321 129428651 N . N N 1.617825458 97.57481044 2.18E-06 81.2 . . EFCAB13 17 47323290 47441312 N . N N 1.540221645 97.17543555 8.22E-19 98.4 DM? . EFCAB14 1 46675159 46719064 N . N N -0.059589522 45.15830295 0.000132863 71.1 . . EFCAB2 1 244969705 245127164 N . N N 0.026467762 51.52514904 7.51E-05 72.8 . . EFCAB3 17 62370218 62416476 N . N N 0.362492381 74.04063205 0.000159092 70.5 . . EFCAB5 17 29929200 30108452 N . N N 0.947578659 91.97777392 7.42E-16 97.4 DM? . EFCAB6 22 43528744 43812337 N . N N 0.834594619 89.88829079 4.57E-19 98.5 . . EFCAB7 1 63523372 63572693 N . N N 1.216270287 95.2075013 1.67E-12 95.1 . . EFCAB8 20 32858923 32961609 N . N N . . . . . . EFCAB9 5 172194172 172203452 N . N N . . . . . . EFCC1 3 129001629 129040742 N . N N . . 0.00046692 67.2 . . EFEMP1 2 55865967 55924139 N Viable N Y -0.615925383 16.32227817 0.999786493 4.3 DM Doyne honeycomb degeneration of retina, 126600 (3) EFHB 3 19879472 19947025 N . N N 1.114244424 94.11356138 6.03E-17 97.8 . . EFHC1 6 52420308 52495785 N . N Y 0.769882418 88.56282919 5.06E-12 94.7 DM {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3); {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3) EFHC2 X 44147882 44343672 N . N N 0.903687532 91.15008393 0.941723124 15.5 DM . EFHD1 2 232606057 232682781 N . N N 0.38485322 75.1519361 0.770005564 22.6 . . EFHD2 1 15409895 15430343 N . N N -0.025096816 47.5834925 0.378995544 33.4 . . EFNA1 1 155127460 155134857 N . N Y 0.285399426 69.6822365 0.872063428 19 . . EFNA2 19 1286154 1300237 N . N Y -0.283071606 30.49140476 0.376749731 33.4 . . EFNA3 1 155078872 155087538 N . N Y 0.064939857 54.54650692 0.180564105 39.3 . . EFNA4 1 155063731 155069553 N . N N 0.363300057 74.07536031 0.000252891 69.1 . . EFNA5 5 107376889 107670895 Y Viable N Y -0.148016487 38.85512531 0.889436552 18.2 . . EFR3A 8 131904088 132013642 N . N N -0.443049941 22.55599931 0.009266191 55.2 DM? . EFR3B 2 25042130 25159137 N . N N . . . . . . EFS 14 23356402 23365752 N . N Y 0.721033554 87.46888927 2.45E-06 80.9 . . EFTUD1 15 82130230 82262763 N . N N 0.255993667 67.82427505 0.033655675 49.1 . . EFTUD2 17 44849943 44899662 N . N N -1.802515406 2.18787984 0.999991435 2.5 DM Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3) EGF 4 109912884 110012266 N . N Y -0.321748239 28.15882387 7.01E-12 94.4 DM Hypomagnesemia 4, renal, 611718 (3) EGFL6 X 13569605 13633575 N . N Y 1.016388172 92.96752908 2.66E-08 87.8 . . EGFL8 6 32164583 32168281 N Viable N Y 0.125114793 59.14221219 3.52E-06 80.2 . . EGFLAM 5 38258409 38465021 N . N Y 0.667073187 86.12606355 9.38E-10 91.2 . . EGLN2 19 40798996 40808433 N . N Y -0.901051837 9.56763327 0.286988739 36 DFP . EGLN3 14 33924231 34462774 N . N Y -0.313083888 28.69711177 0.002641336 60.9 . . EGR4 2 73290929 73293705 N . N Y -0.116894686 40.97933669 0.006266778 57 . . EHBP1 2 62673851 63046487 N . N N -1.068566293 6.939862245 0.999748962 4.5 . {Prostate cancer, hereditary, 12}, 611868 (3) EHD2 19 47713343 47743134 N . N N -0.686172425 14.3369798 0.531641412 29.1 DM? . EHD3 2 31234337 31269447 N . N Y -0.572667189 17.57828327 0.088534396 43.9 . . EHD4 15 41895939 41972578 N . N Y -1.019194721 7.640215315 0.001496806 63 . . EHF 11 34621093 34661057 N . N N 0.015288823 50.66851884 0.978731449 12 . . EHHADH 3 185190624 185281990 N . N Y 1.879854198 98.36777218 8.50E-11 93 . ?Fanconi renotubular syndrome 3, 615605 (3) EID1 15 48877886 48880183 N . N N -0.343096194 27.10540024 0.64535521 26.2 . . EID2 19 39538250 39540230 N . N N 0.178442775 63.08386873 0.750053235 23.2 . . EID2B 19 39530990 39532854 N . N N 0.164393154 62.10568965 0.126192495 41.7 . . EID3 12 104303739 104305202 N . N N 0.004110017 49.83504081 0.237610982 37.5 . . EIF1 17 41688885 41692668 N . N N -0.007371823 48.85686172 0.764131765 22.8 . . EIF1AD 11 65996545 66002176 N . N N 0.057436789 53.89824622 0.181571134 39.3 . . EIF1AX X 20124518 20141844 N . N N 0.105175156 57.60838108 0.88157217 18.5 . . EIF1AY Y 20575725 20593154 N . N N . . 0.424064593 32.2 . . EIF1B 3 40309684 40312424 N . N N 0.082665704 55.90669676 0.394740519 32.9 . . EIF2A 3 150546678 150584242 N . N N -0.282917726 30.50876888 0.000158939 70.5 . . EIF2AK1 7 6022244 6059230 N . N Y -0.355882518 26.53817214 0.000121058 71.3 . . EIF2AK2 2 37099210 37157065 N . N Y -1.143082398 6.117960294 0.051553423 46.9 . . EIF2B1 12 123620406 123633766 N . N N -0.112262427 41.3266192 0.104796388 42.8 DM Leukoencephalopathy with vanishing white matter, 603896 (3) EIF2B5 3 184135038 184684758 N . N Y -0.699265356 13.93181687 0.996711861 7.7 DM Leukoencephalopathy with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3) EIF2D 1 206571292 206612463 N . N N -0.558617759 17.96608207 6.60E-06 79.1 . . EIF2S3 X 24054716 24077971 N . N N 0.437375642 77.75655496 0.916323958 16.9 DM . EIF2S3L 12 10505602 10523135 N . N N . . 0.147907105 40.7 . . EIF3A 10 119033670 119080823 N . N N -1.22424493 5.359726804 1 0.5 . . EIF3C 16 28688558 28735730 N . N N . . 0.343303109 34.4 DM? . EIF3CL 16 28379579 28403879 N . N N . . . . . . EIF3D 22 36510850 36529436 N . N N -1.002426984 7.825432656 0.994221961 8.8 . . EIF3E 8 108201216 108435333 N . N N -0.49315829 20.47809226 0.734231962 23.6 . . EIF3F 11 7970251 8001862 N . N N 0.128941721 59.34479366 0.669067338 25.5 . . EIF3G 19 10115017 10119920 N . N N -0.45181342 22.19714071 0.983422492 11.2 . . EIF3H 8 116642130 116766925 N . N N -0.474322733 21.23632575 0.46505125 31 DFP . EIF3I 1 32221928 32231604 N . N N -0.500661427 20.13080975 0.417329825 32.3 . . EIF3J 15 44537057 44563029 N . N N 0.118418051 58.60971233 0.85908426 19.5 . . EIF3K 19 38619082 38636955 N . N N 0.484307457 79.86340221 0.002331635 61.4 . . EIF3L 22 37848868 37889407 N . N N -1.258512563 5.070324709 0.938813614 15.7 . . EIF4A1 17 7572706 7579005 N . N N -0.673234787 14.6553221 0.999614421 4.9 . . EIF4A2 3 186783205 186789900 N . N N -0.494115743 20.42599988 0.997112605 7.5 . . EIF4A3 17 80135214 80147183 N . N N -0.507207153 19.92244024 0.998989655 5.9 . Robin sequence with cleft mandible and limb anomalies, 268305 (3) EIF4B 12 53006158 53042209 N . N N -0.526691349 19.14105458 0.999986524 2.7 . . EIF4E 4 98871684 98930637 N . N Y -0.058936621 45.1930312 0.983573342 11.2 DM {Autism, susceptibility to, 19}, 615091 (3) EIF4E1B 5 176630682 176646641 N . N N 0.762888245 88.37182381 0.111053692 42.6 . . EIF4E3 3 71675416 71754773 N . N Y -0.051433536 45.65607455 0.004232503 58.9 . . EIF4EBP1 8 38030341 38060365 N . N Y 0.038603643 52.45123575 0.184082877 39.2 . . EIF4EBP2 10 70404379 70428618 N . N Y 0.13805751 60.04514673 0.694677116 24.8 . . EIF4EBP3 5 140547666 140549578 N Viable N Y 0.174616683 62.82340684 0.054243025 46.5 . . EIF4ENIF1 22 31436977 31496108 N . N N -1.265720737 4.983504081 0.999689054 4.7 . . EIF4G1 3 184314495 184335358 N . N Y -1.665970387 2.575678648 1 0.4 DM {Parkinson disease 18}, 614251 (3) EIF4G3 1 20806292 21176888 N . N N -1.181952709 5.776465822 0.999999907 1.1 . . EIF4H 7 74174245 74197101 N . N Y -0.169568594 37.41390288 0.92254488 16.6 . . EIF5 14 103333544 103345025 N . N N -0.80542189 11.43717081 0.90785981 17.4 . . EIF5A 17 7306999 7312463 N . N N 0.018007904 50.90004052 0.890876904 18.2 . . EIF5A2 3 170888415 170908693 N . N N 0.06302642 54.36707762 0.167390172 39.8 . . EIF5AL1 10 79512601 79516440 N . N N 0.161523449 61.87995601 . . . . EIF5B 2 99337353 99401326 N . N N -0.771282946 12.154888 0.895387513 17.9 . . ELAC1 18 50967991 50988121 N . N N -0.095342599 42.403195 0.895039746 17.9 . . ELAC2 17 12992391 13018187 N . N N -1.049875098 7.217688256 4.06E-11 93.5 DM {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3); Combined oxidative phosphorylation deficiency 17, 615440 (3) ELANE 19 851014 856247 N . N Y 0.253623009 67.679574 0.767207228 22.7 DM Neutropenia, cyclic, 162800 (3); Neutropenia, severe congenital 1, autosomal dominant, 202700 (3) ELAVL2 9 23690104 23826337 N . N N -0.733260961 13.05782254 0.972927704 12.7 DP . ELAVL4 1 50048014 50203786 N . N Y -0.27924293 30.68241014 0.976912762 12.2 . Neuropathy, paraneoplastic sensory (1) ELF1 13 40931920 41061440 N . N Y 0.507115742 80.74897262 0.547779993 28.7 . . ELF2 4 139028112 139177218 N . N N -0.21156288 34.83822423 0.985385387 10.9 . . ELF4 X 130064874 130110716 N . N Y -0.105564211 41.74335822 0.611464084 27.1 DM? . ELFN1 7 1688119 1747954 N Viable N Y . . 0.699066032 24.6 . . ELFN2 22 37367960 37427470 N Viable N Y -0.125857678 40.34265208 0.849015287 19.9 . . ELK1 X 47635521 47650604 N . N Y 0.283486649 69.50859524 0.756057874 22.9 DM . ELK4 1 205597556 205631962 N . N Y -0.281003772 30.58401343 0.084588675 44.1 . . ELL2 5 95885098 95962071 N Viable N Y -0.526691349 19.14105458 0.998288545 6.7 . . ELL3 15 43772600 43777543 N . N N 0.0200728 51.09683394 3.17E-06 80.4 . . ELMO1 7 36854361 37449249 N . N Y -0.805268966 11.44874689 0.993000632 9.2 . . ELMO2 20 46366049 46432985 N . N N -0.784672448 11.84812178 0.000350882 68.2 . . ELMO3 16 67199111 67204029 N Viable N Y 0.438940537 77.82601146 1.20E-07 85.9 . . ELMOD1 11 107591091 107666779 N Viable N Y 0.179399332 63.14753719 0.536337679 29 . . ELMOD2 4 140524158 140553770 N . N N -0.007220243 48.88580193 0.804445978 21.5 . . ELMOD3 2 85354394 85391752 N . N N 0.544480852 82.23071135 4.56E-11 93.4 . ?Deafness, autosomal recessive 88, 615429 (3) ELMSAN1 14 73715122 73790285 N . N N 0.113435163 58.22770157 0.99977278 4.4 . . ELOVL2 6 10980759 11044314 N . N N -0.156323524 38.27632112 0.000198697 69.8 . . ELOVL3 10 102226328 102229589 N . N Y -0.31116943 28.88232911 0.010089351 54.9 . . ELOVL5 6 53267398 53349179 N . N N -0.228635876 33.80216473 0.924260372 16.4 . Spinocerebellar ataxia 38, 615957 (3) ELOVL6 4 110045846 110199199 N . N Y -0.126464329 40.30213579 0.971074457 12.9 . . ELOVL7 5 60751791 60844389 N . N N -0.089753398 42.80835793 0.001560922 62.9 . . ELP2 18 36129444 36180556 N . N N -0.158739832 38.11425595 1.31E-07 85.8 DM . ELP3 8 28089673 28191156 N . N N -0.839110097 10.78312207 3.93E-07 84.1 . . ELP4 11 31509750 31783998 N . N N 0.02389999 51.36308387 0.012558281 54 DM? ?Aniridia, 106210 (3) ELP5 17 7251416 7259940 N . N N 0.370952088 74.45158303 6.48E-06 79.1 . . ELP6 3 47495640 47513761 N . N N 0.333287484 72.48364878 0.003507899 59.7 . . ELSPBP1 19 47994651 48025153 N . N N 1.175736565 94.79655033 0.00018142 70.1 . . EMB 5 50396192 50443248 N . N N -0.179789518 36.75985414 6.39E-05 73.2 . . EMC1 1 19215664 19251552 N . N N -0.399649431 24.44290097 6.04E-14 96.3 DM? . EMC10 19 50476400 50490870 N Viable N Y 0.457163544 78.66527754 1.56E-07 85.6 . . EMC2 8 108443601 108486918 N . N N -0.144188409 39.10979915 8.61E-05 72.3 . . EMC3 3 9962537 10011116 N . N N -0.229593003 33.74428431 0.801934562 21.6 . . EMC4 15 34224999 34230156 N . N N -0.148973548 38.82039706 0.9124682 17.2 . . EMC6 17 3668815 3669668 N . N N -0.043930449 46.31591133 0.491983958 30.2 . . EMC7 15 34084017 34101948 N . N N -0.275568538 30.94287203 0.93565156 15.8 . . EMC8 16 85771758 85799608 N . N N -0.182660566 36.56884876 0.259008428 36.8 . . EMC9 14 24138959 24141588 N . N N 0.44679135 78.19644614 0.000353828 68.2 . . EMCN 4 100395341 100880126 N . N N 0.190728755 63.83052613 1.65E-05 76.8 . . EMD X 154379197 154381523 N . N Y 0.218827885 65.61903108 0.84440846 20.1 DM Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) EME1 17 50373220 50381483 N Viable N Y 1.196629346 94.98176767 7.07E-11 93.2 DP . EME2 16 1773207 1781708 N . N N 0.836302786 89.917231 9.50E-14 96.1 . . EMID1 22 29205851 29259597 N . N Y 0.452529749 78.4395439 0.039707727 48.4 . . EMILIN1 2 27078567 27086408 N . N Y 0.790634811 88.99693234 0.005216561 57.9 . . EMILIN2 18 2847030 2915993 N . N N 0.304841601 70.77038838 1.60E-09 90.7 DM . EMILIN3 20 41359966 41366827 N . N N 0.867584647 90.50182323 0.001398097 63.4 . . EML1 14 99737693 99942060 N . N N -1.089448899 6.679400359 0.99944646 5.3 . . EML2 19 45606994 45645629 N Viable N Y -0.176615867 36.95664757 7.58E-10 91.3 . . EML3 11 62602218 62612765 N . N N -1.153159657 6.054291833 0.394340909 32.9 . . EML4 2 42169350 42332548 N . N N -0.666091563 14.85790357 0.391138665 33 . . EML5 14 88612431 88792752 N . N N -2.438407461 1.024483417 0.158418535 40.2 . . EML6 2 54723499 54972025 N . N N . . 0.443032449 31.6 . . EMP1 12 13196716 13219939 N . N Y 0.527414817 81.53035828 0.411003666 32.5 . . EMP2 16 10528422 10580698 N . N N -0.053195214 45.56346588 5.90E-05 73.5 . Nephrotic syndrome, type 10, 615861 (3) EMP3 19 48321509 48330553 N . N N 0.367934269 74.27215373 0.000573648 66.6 . . EMX1 2 72916260 72936071 N Viable N Y . . 0.710215197 24.3 . . EN2 7 155458129 155464831 N . N Y . . 0.433107379 31.9 DFP . ENAH 1 225486835 225653142 N . N Y -0.175004808 37.08977253 0.995700037 8.1 . . ENAM 4 70628744 70686816 N . N Y -0.296369944 29.6405626 5.67E-07 83.5 DM Amelogenesis imperfecta, type IB, 104500 (3); Amelogenesis imperfecta, type IC, 204650 (3) ENC1 5 74627406 74641424 N . N Y -1.054952342 7.142443711 0.879896897 18.6 . . ENDOD1 11 95089810 95132645 N . N N 0.083923805 56.03403369 1.42E-06 82 . . ENDOG 9 128818474 128822677 Y Viable N Y . . 0.006243353 57 . . ENDOU 12 47709734 47725567 N . N N 0.687999311 86.60068299 6.22E-12 94.5 . . ENDOV 17 80415165 80438086 N . N N 1.041622011 93.29165943 2.63E-06 80.7 DM? . ENGASE 17 79074939 79088599 N . N N 1.220420634 95.23644151 8.06E-21 98.8 . . ENHO 9 34521040 34523041 N . N Y -0.074899744 44.03542282 0.113449546 42.4 . . ENKD1 16 67662945 67667265 N . N N 0.535064702 81.88342884 2.15E-05 76 . . ENKUR 10 24981979 25062279 N . N N 0.463710367 79.01834809 9.61E-06 78.2 . . ENO2 12 6913745 6923698 N . N N -0.601876237 16.64640852 0.01857771 52.1 . . ENO3 17 4948092 4957131 N . N N -0.260256521 31.86317069 6.91E-11 93.2 DM ?Glycogen storage disease XIII, 612932 (3) ENO4 10 116849512 116911788 N . N N . . . . . . ENOPH1 4 82430562 82461091 N . N N -0.320586962 28.25722058 0.001757841 62.4 . . ENOSF1 18 670324 712676 N . N N 0.208755511 64.98813451 1.26E-10 92.8 . . ENOX1 13 43213518 43786908 N . N N -0.868166866 10.23904613 0.036401417 48.8 DM? . ENOX2 X 130623369 130903317 N . N N -0.303512836 29.281704 0.003145551 60.1 . . ENPEP 4 110365733 110565285 N . N N -0.113571418 41.22822249 3.58E-19 98.5 . . ENPP1 6 131808016 131895155 N . N Y -0.609076927 16.4785553 2.31E-05 75.9 DM {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized, of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3) ENPP3 6 131628442 131747418 N . N N 0.579585496 83.42883602 6.44E-17 97.8 . . ENPP4 6 46129993 46146699 N . N N 0.127028236 59.25797303 0.414683931 32.4 . . ENPP5 6 46159187 46170971 N . N N 0.242443541 67.04288939 1.92E-05 76.3 . . ENPP6 4 184088706 184221230 N . N N -0.024793574 47.60664467 6.11E-07 83.4 . . ENPP7 17 79730919 79742222 N . N Y 1.602970324 97.51114198 2.21E-10 92.4 . . ENSA 1 150600851 150629612 N . N N 0.018964694 50.97528506 0.162369766 40.1 DP . ENTHD1 22 39743044 39893864 N . N N 0.185289731 63.54112404 3.67E-06 80.1 . . ENTHD2 17 81228277 81239091 N Viable N Y 0.434803554 77.64079412 0.000515476 67 . . ENTPD1 10 95711779 95877266 N Viable N Y -0.296009812 29.68107889 0.519393999 29.5 DM Spastic paraplegia 64, 615683 (3) ENTPD2 9 137048098 137054045 N . N Y 0.741629376 87.90299242 9.49E-07 82.6 . . ENTPD3 3 40387156 40428619 N . N N 0.589650479 83.82821092 2.56E-19 98.5 . . ENTPD4 8 23385783 23457695 N . N N 0.346833134 73.23609423 2.07E-11 93.9 . . ENTPD5 14 73958010 74019399 N . N Y -0.720013589 13.41089309 0.000105198 71.7 . . ENTPD6 20 25195693 25226729 N . N Y 0.815706054 89.44839961 4.99E-05 73.9 . . ENTPD7 10 99659506 99706240 N . N Y -0.599809597 16.72744111 2.57E-08 87.9 . . ENTPD8 9 137434364 137441816 N Viable N Y 0.388023238 75.29084911 1.72E-07 85.4 . . ENY2 8 109334324 109345953 N . N N -0.007371823 48.85686172 0.797810082 21.8 . . EOGT 3 68975214 69013961 N . N N -0.255624009 32.14678474 9.79E-06 78.1 DM Adams-Oliver syndrome 4, 615297 (3) EP400NL 12 132084283 132131639 N . N N . . 0.091220759 43.7 . . EPB41L1 20 36091504 36232799 N . N Y -0.910170724 9.405568096 0.645386133 26.2 DM ?Mental retardation, autosomal dominant 11, 614257 (3) EPB41L2 6 130839347 131063322 N . N Y 0.340442364 72.89459976 0.993883458 8.9 . . EPB41L3 18 5392381 5630700 N . N Y -0.358308745 26.37610696 0.029278388 49.8 . . EPB41L4A 5 112142441 112419316 N Viable N Y 1.274699624 95.57793598 1.99E-11 93.9 . . EPB41L4B 9 109171975 109320964 N Viable N Y -0.448640177 22.35920588 0.999700027 4.6 . . EPB42 15 43106225 43221283 N . N Y 0.20140456 64.46721074 1.56E-07 85.6 DM Spherocytosis, hereditary, type 5, 612690 (3) EPDR1 7 37683843 37951941 N Viable N Y 0.196318636 64.16623256 0.029388014 49.8 . . EPG5 18 45847609 45967274 N . N N 0.885016194 90.82595358 6.94E-07 83.2 DM Vici syndrome, 242840 (3) EPGN 4 74308473 74315307 N Viable N Y -0.072028905 44.27852058 0.003492546 59.7 . . EPHA1 7 143390289 143408892 N . N Y 0.049735058 53.37153441 5.30E-11 93.3 . . EPHA10 1 37713880 37765133 N Viable N Y 1.207331238 95.07437634 3.16E-18 98.2 . . EPHA2 1 16124337 16156087 N . N Y -0.046849448 46.06123748 0.738294173 23.5 DM Cataract 6, multiple types, 116600 (3) EPHA4 2 221418027 221574202 N . N Y -1.571631855 2.957689414 0.999891325 3.8 DM . EPHA5 4 65319563 65670495 N . N Y -0.932540882 8.988829079 0.00039007 67.8 DM . EPHA6 3 96814581 97752460 N Viable N Y -0.746860747 12.70475198 0.954513147 14.4 DM? . EPHA7 6 93240020 93419547 N . N Y -0.805120956 11.45453493 0.987759367 10.5 DM . EPHA8 1 22563564 22603594 N . N Y -0.307552508 29.00387799 1.14E-08 88.8 . . EPHB1 3 134597801 135260467 N . N Y -1.184947408 5.724373444 0.998398641 6.6 . . EPHB2 1 22710839 22921500 N . N Y -1.11359062 6.424726515 0.999948635 3.3 DM {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3) EPHB3 3 184561784 184582409 N . N Y -1.326574189 4.508884644 0.956539592 14.2 . . EPHB6 7 142855061 142871094 N . N Y -0.005657548 49.03629102 0.253348704 37 DM? . EPHX1 1 225810092 225845563 N . N Y 0.717205629 87.34155235 1.62E-07 85.5 DFP ?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1); Hypercholanemia, familial, 607748 (3); {Preeclampsia, susceptibility to}, 189800 (3) EPHX2 8 27490779 27545564 N . N Y 1.57758339 97.36644093 4.92E-13 95.5 DFP {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3) EPHX3 19 15226919 15233435 N . N N 0.482542375 79.82867396 5.05E-07 83.7 . . EPHX4 1 92029982 92063536 N . N N -0.150734446 38.66411993 0.033543927 49.2 . . EPM2A 6 145501583 145736024 N . N Y -0.105716346 41.73178214 3.59E-05 74.8 DM Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) EPM2AIP1 3 36985043 36993168 N . N Y -0.856031129 10.45899172 0.164415268 40 . . EPN1 19 55675226 55709858 N . N Y -0.748112675 12.68738786 0.430317763 32 . . EPN2 17 19215615 19336715 N . N Y -0.759291969 12.41534989 0.177426617 39.4 . . EPN3 17 50532543 50543750 N Viable N Y 1.252187802 95.44481102 1.33E-09 90.9 . . EPPIN 20 45540626 45547752 N . N N 0.427003903 77.20669098 0.000111214 71.5 . . EPPIN-WFDC6 20 45536986 45547426 N . N N 0.421412982 76.87677259 0.000111214 71.5 . . EPPK1 8 143857324 143878464 N . N Y . . 4.95E-21 98.9 FTV . EPS15 1 51354263 51519328 N . N Y -0.175659207 37.02610407 0.241707066 37.3 . . EPS15L1 19 16355239 16472085 N . N N -1.150292794 6.071655959 0.970002535 13 . . EPS8 12 15620158 15882329 N . N Y -0.128727668 40.18637495 0.947393284 15 . ?Deafness, autosomal recessive 102, 615974 (3) EPS8L1 19 55072020 55087923 N Viable N Y 0.388980245 7.53E+01 2.75E-08 87.8 . . EPS8L2 11 694438 727727 N . N Y -1.380340066 4.051629334 0.001827008 62.2 . . EPS8L3 1 109750080 109764027 N . N N 0.637540668 85.28679748 0.000100217 71.9 DM . EPSTI1 13 42886388 42992271 N . N N 0.919797841 91.4915784 1.35E-18 98.3 . . EPT1 2 26308547 26395891 N . N N -0.060698235 45.04254211 0.34746175 34.3 . . EPX 17 58192737 58205174 N . N Y 1.371459735 96.23777276 6.21E-10 91.6 DM [Eosinophil peroxidase deficiency], 261500 (3) EPYC 12 90963679 91005026 N . N N 0.02757579 51.6293338 5.05E-05 73.8 . . EQTN 9 27284659 27297139 N . N N 0.564121238 82.873184 1.33E-07 85.8 . . ERAL1 17 28854938 28861067 N . N N -0.03053445 47.25357412 1.04E-06 82.5 . . ERAP1 5 96760810 96808100 N . N Y 0.485874847 79.92707067 9.99E-18 98.1 DM? . ERAP2 5 96875939 96919716 N . N N 0.811390077 89.36157898 3.18E-22 99.1 FP . ERAS X 48828873 48830138 N . N N -0.005458152 49.05944319 0.519995648 29.5 . . ERBB2IP 5 65926475 66082549 N . N Y 0.289034669 69.82693755 0.993356912 9 . . ERC2 3 55508308 56468363 N . N Y -1.577225576 2.928749204 0.996856462 7.6 . . ERCC6 10 49455368 49539538 N . N Y 2.220295662 98.87711987 5.01E-13 95.5 DM Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletal syndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 (3); {Macular degeneration, age-related, susceptibility to 5}, 613761 (3); UV-sensitive syndrome 1, 600630 (3); {Lung cancer, susceptibility to}, 211980 (3) ERCC6L X 72204657 72239047 N . N N 0.079291193 55.62887075 0.986827394 10.7 FTV . ERCC6L2 9 95875701 96014571 N . N N -0.023836771 47.69925334 0.001555907 62.9 . Bone marrow failure syndrome 2, 615715 (3) ERCC6-PGBD3 10 49515201 49539538 N . N N 0.121895288 58.84702205 2.07E-06 81.3 . . ERCC8 5 60873831 60945073 N . N Y 0.05199832 53.51623546 8.57E-09 89.1 DM Cockayne syndrome, type A, 216400 (3); UV-sensitive syndrome 2, 614621 (3) EREG 4 74365143 74388751 N . N Y -0.138599374 39.52075013 0.000400111 67.7 . . ERGIC1 5 172834275 172952685 N . N N -0.696702134 14.03600162 0.714836766 24.2 . . ERGIC2 12 29337352 29381189 N . N N -0.391788739 24.87121607 0.320357206 35.1 . . ERGIC3 20 35542021 35557634 N . N N -0.875824863 10.04225271 0.003859077 59.2 . . ERH 14 69380123 69398627 N . N N 0.18116337 63.25172194 0.846059924 20 . . ERI2 16 20780193 20900349 N . N N . . 6.39E-05 73.2 . . ERI3 1 44221070 44355260 N . N N -0.484697758 20.7732824 0.129756091 41.6 . . ERICH1 8 614746 738106 N . N N 0.30836083 70.9671818 1.39E-10 92.7 . . ERICH2 2 170783786 170798971 N . N N . . . . . . ERICH3 1 74568111 74673738 N . N N . . . . . . ERICH4 19 41443158 41444765 N . N N . . . . . . ERICH5 8 98064311 98093610 N . N N . . . . . . ERICH6 3 150659885 150703971 N . N N . . . . . . ERICH6B 13 45534522 45615739 N . N N . . . . . . ERLEC1 2 53787044 53818819 N . N N -0.015528497 48.24911732 0.000679063 66.1 . . ERLIN1 10 100150094 100188334 N . N N 0.006828994 50.02025815 0.931709474 16 . . ERLIN2 8 37736599 37759101 N . N N -0.545680331 18.36545697 0.111582005 42.5 DM Spastic paraplegia 18, autosomal recessive, 611225 (3) ERMAP 1 42817124 42844989 N . N N 1.176837334 94.81391445 5.81E-05 73.5 FP [Blood group, Scianna system], 111750 (3); [Blood group, Radin], 111620 (3) ERMARD 6 169751622 169781584 N . N N 0.574798023 83.24361868 5.17E-10 91.7 . ?Periventricular nodular heterotopia 6, 615544 (3) ERMN 2 157318625 157327713 N . N N 0.244206777 67.1412861 0.003101525 60.2 . . ERMP1 9 5765076 5833117 N Viable N Y -1.022726395 7.570758812 4.55E-05 74.2 DM? . ERN2 16 23690326 23713500 N . N Y 0.267325961 68.48411182 1.79E-15 97.2 . . ERO1A 14 52639916 52695900 N . N N . . . . . . ERO1B 1 236215555 236281985 N . N N . . . . . . ERP27 12 14914035 14939082 N . N N 0.413101046 76.51212595 1.11E-07 86 . . ERP29 12 112013316 112023451 N . N N 0.289225269 69.8616658 0.470649236 30.8 . . ERV3-1 7 64990809 65006743 N . N N 0.793195884 89.0606008 4.31E-07 83.9 . . ERVMER34-1 4 52722618 52751640 N . N N . . . . . . ERVV-1 19 53013921 53016122 N . N N . . . . . . ERVV-2 19 53044738 53051076 N . N N . . . . . . ERVW-1 7 92468380 92477986 N . N N 1.252833539 95.4563871 0.013567172 53.6 . . ESAM 11 124752583 124762290 N . N Y 0.12989848 59.41425016 0.191978714 38.9 DM? . ESCO1 18 21529281 21600884 N . N Y -0.237596807 33.2175725 0.998809461 6.1 . . ESD 13 46771256 46797232 N . N N 0.151300234 61.07541819 0.000611692 66.4 . . ESF1 20 13714322 13784886 N . N N -0.60061732 16.68692481 0.084445279 44.1 . . ESM1 5 54977864 55022671 N . N N 0.208455225 64.9591943 0.026176218 50.3 . . ESPN 1 6424788 6461370 N . N Y -0.030382941 47.27093824 0.002553841 61.1 DM Deafness, autosomal recessive 36, 609006 (3); Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) ESPNL 2 238100157 238133287 N Viable N Y 2.426032376 99.12600567 3.88E-10 91.9 . . ESR1 6 151656691 152129619 N . N Y -0.673079812 14.68426231 0.987167021 10.5 DM Estrogen resistance, 615363 (3); {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3); {Atherosclerosis, susceptibility to} (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Breast cancer}, 114480 (1) ESR2 14 64084232 64338112 N . N Y -0.041561741 46.46640042 5.15E-08 86.9 DM? . ESRP1 8 94641074 94707466 N . N N -0.112110344 41.35555941 0.999134057 5.7 . . ESRP2 16 68229111 68238102 N . N N -0.89707561 9.654453898 0.731424519 23.7 . . ESRRA 11 64305572 64316743 N . N Y 0.005066824 49.89292122 0.527244157 29.2 . . ESX1 X 104250038 104254933 N . N Y 0.375585437 74.723621 0.635809622 26.5 . . ESYT1 12 56118250 56144671 N . N N -1.37719724 4.080569543 2.14E-07 85.1 . . ESYT2 7 158730995 158830253 N Viable N Y -0.874564914 10.08855704 0.008440951 55.6 . . ESYT3 3 138434586 138481686 N Viable N Y 1.608720829 97.53429415 2.43E-11 93.8 . . ETAA1 2 67397319 67410545 N . N N 0.61231395 84.53435203 0.975314596 12.4 . . ETF1 5 138506095 138543300 N . N N -0.472563815 21.34629855 0.998925127 6 . . ETFA 15 76215355 76311472 N . N N 0.17476603 62.85234705 0.012927273 53.9 DM Glutaric acidemia IIA, 231680 (3) ETFB 19 51345169 51366418 N . N N -0.115937794 41.07194536 0.003716163 59.3 DM Glutaric acidemia IIB, 231680 (3) ETFDH 4 158672125 158709623 N . N N -0.592306384 16.9473867 1.63E-07 85.5 DM Glutaric acidemia IIC, 231680 (3) ETNK1 12 22625075 22690665 N Viable N Y 0.382132046 75.02459918 0.865130479 19.3 . . ETNK2 1 204131062 204152003 N . N Y 0.060307001 54.1297679 0.007118854 56.5 . . ETNPPL 4 108742040 108763054 N . N N -0.720013589 13.41089309 0.000225469 69.4 . . ETV1 7 13891228 13991425 N . N Y -0.863534559 10.30271459 0.996674203 7.7 . . ETV3 1 157121191 157138474 N . N N . . 0.783799556 22.2 . . ETV3L 1 157092044 157099808 N . N N 1.477004488 96.85709325 1.21E-05 77.6 . . ETV4 17 43527844 43579620 N . N Y 0.138358236 60.06251085 0.00270291 60.8 . . ETV7 6 36354091 36387800 N . N N 0.513511574 81.03837472 2.01E-08 88.1 . . EVA1A 2 75469302 75569722 N . N N 0.353884195 73.67019737 0.061811031 45.8 . . EVA1B 1 36322031 36324154 N . N N 0.547056981 82.31174394 0.656674968 25.9 . . EVA1C 21 32412006 32515397 N . N N 0.460989431 78.87943509 0.325814898 35 . . EVI2A 17 31317560 31321884 N . N N 0.282678709 69.47965503 8.69E-06 78.4 . . EVI2B 17 31303766 31314112 N . N N 0.445983156 78.16171789 0.177043581 39.5 . . EVI5 1 92508696 92792404 N . N N 0.708898651 87.08687851 2.33E-06 81 DM? . EVI5L 19 7830233 7864976 N . N N -0.708836138 13.66556694 0.989107013 10.1 . . EVL 14 99971449 100144236 N Viable N Y -0.479911471 20.98743995 0.99261527 9.3 . . EVPL 17 76004502 76027452 N . N Y 0.712397123 87.20842739 6.49E-14 96.3 FTV . EVPLL 17 18377662 18389647 N . N N . . 2.73E-08 87.8 . . EVX2 2 176077472 176083913 N . N Y 0.086643016 56.19609886 . . . . EXD1 15 41182725 41230743 N . N N -0.343746643 27.07067199 2.03E-13 95.8 . . EXD2 14 69191511 69244020 N . N N -0.461077067 21.84985819 1.11E-08 88.8 . . EXD3 9 137306896 137423262 N . N N 2.093842613 98.72084274 1.19E-08 88.7 . . EXO1 1 241847967 241895148 N . N Y 0.809473582 89.31527464 9.25E-09 89 DM . EXO5 1 40508741 40516556 N . N N 0.055674233 53.76512126 0.000872651 65.2 . . EXOC1 4 55853616 55905034 N . N N -1.288376997 4.76934653 0.096664204 43.4 . . EXOC2 6 485133 693111 N . N N -1.448691364 3.681194652 0.000114966 71.4 . . EXOC3 5 443158 471937 N . N N -0.435697089 22.93222203 0.755230038 23 . . EXOC3L1 16 67184366 67190204 N . N N 0.998816062 92.73600741 7.64E-10 91.3 . . EXOC3L4 14 103100144 103110559 N . N N . . 3.13E-07 84.4 . . EXOC5 14 57200507 57269008 N . N N 0.087599756 56.28870753 0.996683025 7.7 . . EXOC6B 2 72175984 72826041 N . N N 0.026770398 51.55987729 0.666298052 25.6 DM . EXOC7 17 76081017 76121576 N . N N -0.354925841 26.57868843 0.000651393 66.2 . . EXOG 3 38496127 38542161 N . N N 0.225524115 65.99525381 2.86E-08 87.7 . . EXOSC1 10 97436142 97446017 N . N N 0.226330975 66.02998206 1.88E-07 85.2 . . EXOSC10 1 11066618 11099881 N . N N -0.168962986 37.46599525 1.66E-07 85.5 . . EXOSC2 9 130693721 130704894 N . N N -0.172286507 37.23447358 0.004089806 59 . . EXOSC4 8 144078626 144080647 N . N N 0.136294125 59.95253806 0.099450175 43.1 . . EXOSC5 19 41386374 41397479 N . N N 0.237660296 66.68403079 0.001192557 64 . . EXOSC6 16 70246778 70251930 N . N N . . 0.494173934 30.1 . . EXOSC7 3 44975241 45036066 N . N N -0.179789518 36.75985414 0.014139529 53.5 . . EXPH5 11 108505431 108593738 N . N N 1.628547649 97.61532673 5.76E-21 98.9 DM Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3) EXTL1 1 26019884 26036464 N . N N 0.912447063 91.3121491 1.18E-12 95.2 . . EXTL2 1 100872372 100895998 N . N Y 0.183225703 63.41957516 3.16E-05 75.1 . . EYA2 20 46894624 47188844 N . N N 0.072745024 55.10794698 0.335504422 34.7 . . EYA3 1 27970344 28088696 N . N N -0.510881113 19.77773919 0.995035731 8.4 . . EYS 6 63719980 65707225 N . N N . . 8.21E-09 89.2 DM Retinitis pigmentosa 25, 602772 (3) EZH1 17 42700275 42745049 N Viable N Y -0.85044222 10.54002431 0.000641438 66.3 . . F11 4 186265945 186288806 N . N Y -0.664469158 14.90420791 1.91E-22 99.1 DM Factor XI deficiency, autosomal recessive, 612416 (3); Factor XI deficiency, autosomal dominant, 612416 (3) F12 5 177402140 177409576 N . N Y 0.270693188 68.73299763 3.46E-06 80.3 DM Factor XII deficiency, 234000 (3); Angioedema, hereditary, type III, 610618 (3) F13A1 6 6144085 6321013 N Viable N Y -0.185075564 36.45308792 0.001027361 64.6 DM Factor XIIIA deficiency, 613225 (3); {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3) F13B 1 197039191 197067267 N . N Y -0.33433006 27.52213926 2.13E-05 76 DM Factor XIIIB deficiency, 613235 (3) F2RL1 5 76818933 76835315 Y Viable N Y 0.124158088 59.0611796 0.002022517 61.8 DP . F2RL2 5 76615482 76623434 N . N Y 0.203015042 64.55981941 7.37E-07 83.1 . . F2RL3 19 16888860 16892606 N . N Y 1.067001612 93.59842565 0.003022354 60.3 . . F8 X 154835788 155026940 N . N Y -0.051482541 45.63292238 0.999999812 1.2 DM Hemophilia A, 306700 (3) F8A1 X 154886349 154888061 N . N N . . . . . . F8A2 X 155382115 155383230 N . N N . . . . . . F8A3 X 155456914 155458672 N . N N . . . . . . FA2H 16 74712955 74774831 N . N Y -0.066287483 44.66631938 0.726409724 23.8 DM Spastic paraplegia 35, autosomal recessive, 612319 (3) FAAH 1 46394265 46413848 N . N Y -0.497635687 20.31602709 5.93E-07 83.5 DM Spastic paraplegia 35, autosomal recessive, 612319 (3) FAAH2 X 57286706 57489196 N . N N 1.015582212 92.95016496 2.46E-17 97.9 DM . FAAP100 17 81539885 81553961 N . N N . . . . . . FAAP20 1 2184461 2212720 N . N N . . . . . . FAAP24 19 32972209 32978222 N . N N . . . . . . FABP1 2 88122982 88128116 N Viable N Y -0.072985841 44.23221624 0.01606198 52.8 FP . FABP12 8 81524981 81531378 N . N N 0.632461877 85.11894426 0.00294557 60.4 . . FABP2 4 119317250 119322390 N . N Y 0.192492475 63.9636511 0.001177905 64.1 DFP . FABP3 1 31365625 31376850 N . N Y 0.071486219 54.9863981 0.354913337 34 DP . FABP4 8 81478419 81483263 N . N Y 0.109001675 57.91514731 0.004925642 58.2 DFP . FABP5 8 81280363 81284777 N . N Y 0.06302642 54.36707762 0.095838201 43.4 . . FABP6 5 160187367 160238735 N . N Y 0.44679135 78.19644614 0.000205946 69.7 DP . FABP7 6 122779475 122784074 N . N Y 0.236554885 66.60299821 0.090713461 43.7 DP . FABP9 8 81458341 81461579 N . N Y . . 0.000340177 68.3 . . FADS1 11 61799625 61829318 N Viable N Y -0.146102415 38.98246223 0.383801127 33.2 . . FADS2 11 61792980 61867354 N . N Y -0.663816607 14.92736007 0.990052486 9.9 DFP . FADS3 11 61873519 61892051 N . N N -0.460273767 21.90195057 0.048872245 47.1 . . FADS6 17 74877299 74893781 N . N N 1.012563014 92.90964867 2.48E-07 84.8 . . FAF2 5 176447628 176510074 N . N N -0.119765437 40.78833131 0.998046615 6.9 . . FAHD1 16 1826941 1840207 N . N N 0.065090757 54.56387104 1.19E-08 88.7 . . FAHD2A 2 95402721 95416616 N . N Y 0.247076574 67.28019911 0.054072034 46.5 . . FAHD2B 2 97083583 97094882 N . N N 0.29113834 69.98900272 0.027911384 50 . . FAIM 3 138608606 138633376 N . N Y 0.226330975 66.02998206 0.068117194 45.2 . . FAIM2 12 49866896 49904217 N . N Y 0.00123959 49.58036696 0.619353001 27 . . FAM101A 12 123973215 124316024 N . N N 0.316368397 71.5054697 0.212634236 38.4 . . FAM101B 17 439978 445939 N . N Y . . . . . . FAM102A 9 127940579 127980513 N . N N -0.627257916 15.94605545 0.430347065 31.9 . . FAM102B 1 108560089 108644900 N . N N 0.084729555 56.09191411 0.047930772 47.2 . . FAM103A1 15 82986207 82991057 N . N N 0.291946181 70.03530706 0.828445215 20.7 . . FAM104A 17 73207353 73236753 N . N Y 0.215958347 65.40487353 0.612044065 27.1 . . FAM104B X 55143102 55161310 N . N N 0.881990556 90.74492099 0.008709939 55.5 . . FAM105A 5 14581775 14615007 N . N N 0.806141305 89.25739422 2.33E-07 84.9 . . FAM106A 17 18524566 18526846 N . N N . . . . . . FAM107A 3 58564117 58627610 N . N N 0.111871637 58.12930486 0.001645089 62.7 . . FAM107B 10 14518557 14774897 N . N Y -0.434892888 22.97273832 0.000196116 69.9 . . FAM109A 12 111360651 111369121 N . N N 0.423325465 77.03304972 0.005149827 58 . . FAM109B 22 42074251 42079441 N . N N 0.387722289 75.27927302 0.000109677 71.6 . . FAM110A 20 833715 857463 N . N N . . 0.747790603 23.2 . . FAM110B 8 57994509 58204279 N . N N -0.26232271 31.69531747 0.172625631 39.6 . . FAM110C 2 38814 46870 N . N N -0.145145404 39.04034265 8.71E-08 86.3 . . FAM110D 1 26159020 26162628 N . N N . . 0.550404227 28.6 . . FAM111A 11 59142748 59155039 N . N N -0.577299978 17.43937026 3.22E-09 90 DM Kenny-Caffey syndrome, type 2, 127000 (3); Gracile bone dysplasia, 602361 (3) FAM111B 11 59107185 59127410 N . N N -0.709489106 13.6597789 7.17E-11 93.2 DM? Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3) FAM114A1 4 38867677 38945739 N . N N 0.250097881 67.46541645 2.38E-08 87.9 . . FAM114A2 5 153990128 154038936 N . N N -0.519188205 19.50570122 3.08E-07 84.5 . . FAM117A 17 49710332 49789180 N . N N -0.594373051 16.88371824 1.22E-05 77.6 . . FAM117B 2 202635188 202769757 N . N Y -0.383328502 25.24743879 0.067387015 45.3 . . FAM118A 22 45308968 45341955 N . N N -0.583998323 17.25415292 0.591868565 27.7 . . FAM118B 11 126211414 126262986 N . N N -0.316758145 28.47137813 0.390427139 33 . . FAM120A 9 93451722 93566107 N . N N -1.702899586 2.436765642 0.99990705 3.7 DM . FAM120AOS 9 93446494 93453592 N . N N 0.414865996 76.60473462 0.514390707 29.6 . . FAM120B 6 170290703 170407065 N . N N 0.533608827 81.80239625 2.34E-08 88 DM? . FAM120C X 54068324 54183281 N . N N -0.638435006 15.72032182 0.973037035 12.7 . . FAM122A 9 68780055 68784608 N . N N -0.250187888 32.45355096 0.800532188 21.6 . . FAM122B X 134769566 134797232 N . N N 0.260977174 68.09052498 0.757591089 22.9 . . FAM122C X 134796789 134854610 N . N N 0.428916211 77.3340279 0.174595944 39.6 . . FAM124A 13 51222334 51284241 N . N N 0.267822797 68.56514441 5.43E-07 83.6 . . FAM124B 2 224378698 224402085 N . N N 0.243250221 67.10655785 0.002299402 61.4 . . FAM126A 7 22889371 23014130 N . N N 0.206841947 64.8202813 0.803307845 21.5 DM Leukodystrophy, hypomyelinating, 5, 610532 (3) FAM126B 2 200973718 201071671 N . N N -1.100931968 6.552063437 0.979818816 11.8 . . FAM127A X 135032366 135033546 N . N N 0.030143764 51.8087631 0.599977363 27.5 . . FAM127B X 135050932 135052196 N . N N 0.245014457 67.16443827 0.027908298 50 . . FAM127C X 135020504 135022529 N . N N 0.131510986 59.50685883 0.025598157 50.4 . . FAM129A 1 184790724 184974550 N . N Y 0.394879236 75.56288708 1.40E-13 96 . . FAM129B 9 127505339 127578989 N . N N -0.089299094 42.84308618 0.096703214 43.4 . . FAM129C 19 17523301 17553839 N . N N 1.382470236 96.30144122 1.34E-10 92.7 . . FAM131A 3 184335926 184346275 N . N N -0.240770687 32.9976269 0.031328424 49.5 . . FAM131B 7 143353400 143362770 N . N N -0.277328762 30.80974706 0.921928278 16.6 . . FAM131C 1 16057769 16073632 N . N N 1.245184528 95.39850669 0.276924373 36.3 . . FAM132A 1 1242446 1246722 N . N N . . 4.68E-05 74.1 . . FAM132B 2 238158982 238168900 N . N Y . . . . . . FAM133A X 93674013 93712274 N . N N 0.274070774 68.90085084 0.659793341 25.8 . . FAM133B 7 92560793 92590394 N . N N -0.149930626 38.75094056 0.000297399 68.7 . . FAM134A 2 219176225 219185479 N . N N -0.269673173 31.29015454 0.758589563 22.9 . . FAM134B 5 16473038 16617058 N . N N -0.247316664 32.6098281 0.005651396 57.5 DM Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) FAM134C 17 42579513 42610623 N Viable N Y -0.465709488 21.64727673 0.145899134 40.8 . . FAM135A 6 70412941 70561174 N . N N -0.606878479 16.54801181 0.78712561 22.1 . . FAM135B 8 138130023 138496822 N . N N -1.591865586 2.859292701 0.999998682 1.8 . . FAM136A 2 70295975 70302090 N . N N 0.983361131 92.57973028 0.001478617 63.1 . . FAM13A 4 88725955 89111398 N . N N -0.249584647 32.47091509 2.45E-14 96.5 . . FAM13C 10 59246129 59363181 N . N N -0.081141613 43.508711 0.000441696 67.4 . . FAM149A 4 186104419 186172667 N . N N 2.063655672 98.66875036 0.00644453 56.9 . . FAM149B1 10 73168166 73244504 N . N N . . . . . . FAM150A 8 52534037 52565507 N . N N -0.014874933 48.27805753 0.001845521 62.2 . . FAM150B 2 279558 288851 N . N N . . 0.384937771 33.2 . . FAM151A 1 54609182 54623556 N Viable N Y 1.422864858 96.50981073 3.92E-13 95.6 . . FAM151B 5 80487969 80542563 N Viable N Y 0.643789018 85.47201482 8.21E-07 82.9 . . FAM153A 5 177707981 177783398 N . N N . . 0.276667825 36.3 . . FAM153B 5 176060689 176132258 N . N N 1.663666097 97.78317995 0.647490029 26.1 . . FAM153C 5 178006405 178055559 N . N N . . 0.848853442 19.9 . . FAM155A 13 107163510 107866735 N . N N -0.394506329 24.68021068 0.800415326 21.7 . . FAM155B X 69505241 69532508 N . N N 0.252666418 67.59275337 0.870611038 19 . . FAM156A X 52926402 52995472 N . N N . . . . . . FAM156B X 52891306 52908560 N . N N . . . . . . FAM159A 1 52633344 52669683 N . N N 0.34829376 73.28818661 0.000284218 68.8 . . FAM159B 5 64690308 64718090 N . N N . . 0.101184302 43 . . FAM160A1 4 151409216 151663632 N . N N . . . . . . FAM160A2 11 6211335 6234711 N . N N 0.002802409 49.67876367 0.999881559 3.9 . . FAM160B1 10 114821744 114899832 N . N N -1.129837298 6.274237425 0.999984985 2.7 . . FAM160B2 8 22089159 22104898 N . N N -0.214131045 34.67037101 2.05E-05 76.2 . . FAM161A 2 61824854 61854143 N Viable N Y 0.868383761 90.54812757 3.03E-09 90.1 DM Retinitis pigmentosa 28, 606068 (3) FAM161B 14 73931501 73950414 N . N N 0.660205663 85.92927013 9.86E-11 92.9 . . FAM162A 3 122384176 122412334 N . N N 0.404494149 76.04329455 0.000629842 66.3 . . FAM162B 6 116752197 116765723 N . N N 0.533006157 81.75030387 0.000825835 65.4 . . FAM163A 1 179743163 179816198 N Viable N Y 0.41390976 76.54106616 0.579850964 28 . . FAM163B 9 133578415 133586197 N . N N . . 0.428150995 32 . . FAM166A 9 137243584 137247770 N . N N 0.992114278 92.67812699 1.70E-11 94 DM? . FAM166B 9 35561831 35563899 N . N N 0.718823127 87.39364473 3.85E-06 80.1 . . FAM167A 8 11421463 11474715 N . N N 0.588543737 83.79927071 0.000192998 69.9 . . FAM167B 1 32247233 32248856 N . N N 0.411041265 76.39636511 0.002691153 60.8 . . FAM168A 11 73400487 73598189 N . N N -0.449096955 22.33605371 0.951667905 14.6 . . FAM168B 2 131047876 131093460 N . N N -0.224004258 34.09156682 0.043771494 47.7 . . FAM169A 5 74777574 74866951 N . N N -0.383175561 25.25901488 0.998576225 6.4 . . FAM169B 15 98437162 98514382 N . N N 1.440296905 96.66029982 0.001356899 63.5 . . FAM170A 5 119629559 119635822 N . N N 0.982548198 92.53921398 . . . . FAM170B 10 49131154 49134008 N . N N . . . . . . FAM171A1 10 15211643 15371062 N . N N -0.857503418 10.42426347 0.987016298 10.6 . . FAM171A2 17 44353215 44363875 N . N N . . . . . . FAM171B 2 186693971 186765965 N . N N -1.103500292 6.511547144 0.057421357 46.2 . . FAM172A 5 93618069 94111699 N . N N -0.426432699 23.27950454 0.018287109 52.1 . . FAM173A 16 720581 722601 N . N N . . 0.00048241 67.1 . . FAM173B 5 10226330 10249897 N . N N 0.336156875 72.63992591 2.44E-07 84.9 . . FAM174A 5 100535305 100586741 N . N N 0.005872186 49.93922556 0.000618294 66.4 . . FAM174B 15 92617443 92809884 N . N N 0.329462031 72.26949123 0.00994225 54.9 . . FAM175A 4 83459517 83523348 N . N N -0.048410911 45.9396886 0.314878215 35.3 DM . FAM175B 10 124801785 124836670 N . N Y -0.146906657 38.94194594 0.086852197 44 . . FAM177A1 14 35044907 35113130 N . N N -0.045692193 46.15384615 0.002067883 61.7 . . FAM177B 1 222737207 222750805 N . N N 0.427960039 77.28193552 9.21E-06 78.3 . . FAM178B 2 96875882 97018438 N . N N . . 8.70E-05 72.3 . . FAM179A 2 28956611 29061373 N . N N 3.261713327 99.63535336 2.53E-20 98.8 . . FAM179B 14 44962208 45074431 N . N N -1.36754803 4.16160213 2.89E-06 80.6 . . FAM180A 7 135728348 135748846 N . N N 0.711319676 87.16212305 0.33707826 34.7 . . FAM180B 11 47586693 47589194 N . N N . . 0.315838165 35.3 . . FAM181A 14 93918894 93929608 N . N N 0.296878173 70.31892111 0.024983863 50.5 . . FAM181B 11 82729941 82733864 N . N N . . 0.216567008 38.2 . . FAM182B 20 25763466 25868225 N . N N . . . . . . FAM183A 1 43145153 43156396 N . N N 0.602448269 84.17549343 0.029326736 49.8 . . FAM184A 6 118959763 119149387 N . N N -0.329398138 27.76523702 2.04E-13 95.8 . . FAM184B 4 17629306 17781512 N . N Y . . . . . . FAM185A 7 102748971 102809225 N . N N . . . . . . FAM186A 12 50326230 50396622 N . N N . . . . . . FAM186B 12 49582885 49605639 N Viable N Y 0.860081217 90.36869827 2.40E-12 94.9 . . FAM187A 17 44899712 44905390 N . N N . . . . . . FAM187B 19 35224800 35228729 N . N N 1.08951302 93.84152341 3.67E-06 80.2 FTV . FAM188A 10 15778170 15860520 N . N N -0.411426546 23.88724894 0.629692868 26.7 DFP . FAM188B 7 30771417 30892387 N . N N 1.604093597 97.51693002 2.25E-15 97.1 . . FAM189A1 15 29120254 29570723 N . N N . . . . . . FAM189A2 9 69324572 69392455 N . N N 0.523884453 81.41459744 8.92E-06 78.3 . . FAM189B 1 155247205 155255483 N . N N 0.185289731 63.54112404 0.000482815 67.1 . . FAM192A 16 57152466 57186116 N . N N -0.236138921 33.29860508 0.944099351 15.3 . . FAM193A 4 2625261 2732565 N . N N -0.482044269 20.89483128 0.997818289 7.1 . . FAM193B 5 177519788 177554541 N . N N 0.176829957 62.97389593 0.923710453 16.5 . . FAM195A 16 636817 648474 N . N N . . 0.053361787 46.6 . . FAM195B 17 81822361 81833302 N . N N . . 0.317596824 35.2 . . FAM196A 10 127135426 127196158 N . N N -0.138294989 39.54969034 0.849026865 19.9 . . FAM196B 5 169864264 169980740 N . N N . . . . . . FAM198A 3 42979267 43060211 N . N N . . . . . . FAM198B 4 158124474 158173318 N . N N 0.361686411 74.00011576 2.50E-06 80.8 . . FAM199X X 104166620 104195902 N . N N -0.08048891 43.56080338 0.926151028 16.3 . . FAM19A1 3 68004216 68545625 N . N N -0.239967611 33.04971928 0.861963101 19.4 . . FAM19A2 12 61708259 62279150 N . N N 0.266567586 68.44359553 0.54745717 28.7 . . FAM19A3 1 112720419 112727235 N . N N 0.423325465 77.03304972 0.027147378 50.2 . . FAM19A4 3 68731766 68932610 N . N N 0.398903333 75.78283267 0.19814882 38.8 . . FAM19A5 22 48489460 48850912 N . N N 0.056480057 53.81721364 0.310031382 35.5 . . FAM200A 7 99546308 99558536 N . N N . . 6.01E-05 73.4 . . FAM200B 4 15681662 15705565 N . N N . . . . . . FAM204A 10 118297930 118342328 N . N N -0.132053341 39.94906523 0.050712422 46.9 . . FAM205A 9 34723055 34729467 N . N N . . . . . . FAM206A 9 108934181 108950744 N . N N 0.36138737 73.96538751 0.003362344 59.9 . . FAM207A 21 44940010 44976989 N . N N 0.005872186 49.93922556 0.039581765 48.4 . . FAM208B 10 5684838 5763740 N . N N 0.534009862 81.82554842 0.965063265 13.5 . . FAM209A 20 56517187 56526142 N . N N 0.786354605 88.89274758 0.031677045 49.4 . . FAM209B 20 56533246 56536520 N Viable N Y 0.376393738 74.74098512 0.02972064 49.7 . . FAM20A 17 68535113 68601389 Y Viable N Y 0.721838716 87.4862534 0.002501122 61.1 DM Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3) FAM210B 20 56358915 56368663 N Viable N Y -0.058936621 45.1930312 0.072330494 44.9 . . FAM212B 1 111680630 111755824 N . N N 0.033165214 52.10395323 0.003590517 59.6 . . FAM213A 10 80407829 80437115 N . N N 0.165349748 62.17514615 0.000157315 70.5 . . FAM213B 1 2586491 2591469 N . N N . . 0.0001667 70.3 . . FAM214A 15 52581317 52709817 N . N N 0.16212845 61.93204839 0.966998569 13.4 . . FAM214B 9 35104112 35116341 N . N N 0.319387303 71.73699138 0.387716111 33.1 . . FAM216A 12 110468364 110490385 N Viable N Y 0.309821667 71.05979047 0.001116299 64.3 . . FAM216B 13 42781550 42791549 N . N N -0.079531963 43.66498813 9.42E-05 72.1 . . FAM217A 6 4049434 4087344 N . N N 0.760312099 88.31973143 1.67E-06 81.7 . . FAM217B 20 59933764 59948680 N . N N -0.13094377 40.00115761 0.001081324 64.4 . . FAM218A 4 164956948 164959122 N . N N 0.579938151 83.45198819 0.001826325 62.3 . . FAM219A 9 34398184 34458570 N . N N 0.215958347 65.40487353 0.272603036 36.4 . . FAM219B 15 74899987 74907121 N . N N 0.322915185 71.92799676 0.001227651 63.9 . . FAM21A 10 50067888 50133506 N . N N . . . . . . FAM21C 10 45727200 45792961 N . N N . . . . . . FAM220A 7 6329409 6348981 N . N N 0.391548194 75.45291428 1.23E-05 77.5 . . FAM221A 7 23680130 23703249 N . N N 0.752660945 88.14609018 5.10E-09 89.6 . . FAM221B 9 35816391 35828747 N . N N 0.736697979 87.7756555 4.05E-06 79.9 . . FAM222A 12 109714228 109770507 N . N N 0.54352436 82.19019506 0.400389072 32.8 . . FAM222B 17 28755978 28855232 N . N N -0.08673095 43.07460786 0.549446554 28.6 . . FAM227A 22 38578120 38656629 N . N N . . . . . . FAM227B 15 49326962 49620931 N . N N 0.518294668 81.20622793 2.74E-16 97.6 . . FAM228A 2 24175069 24200849 N . N N 0.656883854 85.81350929 0.00040974 67.7 . . FAM228B 2 24076526 24169640 N . N N . . . . . . FAM229A 1 32361270 32364278 N . N N . . . . . . FAM229B 6 112087599 112102790 N . N N 0.395078624 75.58603924 0.549545407 28.6 . . FAM231A 1 16673003 16673512 N . N N . . . . . . FAM231C 1 16733951 16734461 N . N N . . . . . . FAM231D 1 149702328 149705721 N . N N . . . . . . FAM24A 10 122910701 122913111 N . N N 0.199039114 64.30514557 0.167839102 39.8 . . FAM24B 10 122849078 122879641 N . N N 0.547056981 82.31174394 0.033649941 49.1 . . FAM25A 10 87020306 87024730 N . N N . . . . . . FAM25C 10 47995355 47999791 N . N N . . . . . . FAM25G 10 47487219 47491693 N . N N . . . . . . FAM26D 6 116529013 116558868 N . N N 0.450469806 78.36429936 0.033838822 49.1 . . FAM26E 6 116511646 116524792 N . N N 0.222654188 65.80424842 0.001108388 64.3 . . FAM26F 6 116461370 116463779 N . N N . . 1.80E-05 76.5 . . FAM32A 19 16185380 16192046 N . N N . . 0.009052868 55.3 . . FAM35A 10 87094161 87191468 N . N N 0.658136345 85.85981363 0.156586369 40.3 . . FAM3A X 154506159 154516242 N . N N 0.003958565 49.8061006 0.844646764 20.1 . . FAM3B 21 41304212 41357431 N . N Y 0.410231756 76.34427273 1.18E-06 82.3 . . FAM3C 7 121348851 121396364 N . N N -0.314041164 28.6045031 0.001081075 64.4 DM . FAM3D 3 58633946 58666848 N . N Y -0.134771456 39.75805985 0.004030909 59 . . FAM43A 3 194686544 194689037 N . N N . . . . . . FAM43B 1 20552439 20555010 N . N N . . . . . . FAM45A 10 119104086 119137984 N . N N -0.30079494 29.40904092 0.000243199 69.2 . . FAM46A 6 81491439 81752774 N . N N -0.284831791 30.36985588 0.347457969 34.3 . . FAM46B 1 27005020 27012836 N . N N -0.393549347 24.76703131 0.051189875 46.9 . . FAM46D X 80335504 80445311 N . N N 0.090319161 56.46813683 0.674763512 25.3 . . FAM47A X 34129756 34132314 N . N N 0.602896139 84.20443364 0.748400418 23.2 . . FAM47B X 34942796 34944915 N . N N 1.1685284 94.72709382 0.000117993 71.4 FTV . FAM47C X 37008397 37011666 N . N N 1.790926265 98.15940267 0.057797311 46.2 . . FAM47E 4 76214040 76283780 N . N N . . 0.341134282 34.5 . . FAM47E-STBD1 4 76306026 76311599 N . N N . . 1.58E-07 85.6 . . FAM49A 2 16549459 16666331 N . N N -0.375023253 25.68154193 0.805360676 21.4 . . FAM50A X 154444126 154450654 N . N N -0.049519725 45.82392777 0.945400813 15.2 . . FAM50B 6 3849386 3851317 N . N N -0.314843927 28.5639868 0.195542493 38.8 . . FAM53A 4 1617915 1684302 N . N N 1.410421111 96.4229901 3.01E-05 75.2 . . FAM53B 10 124619292 124744269 N Viable N Y 0.188965718 63.72634138 0.400479602 32.7 . . FAM53C 5 138331935 138349729 N . N N -0.129986883 40.1111304 0.639249208 26.3 . . FAM57A 17 732412 742972 N . N N 0.379262743 74.89726226 0.020765198 51.4 . . FAM57B 16 30024427 30052978 N . N N -0.312126643 28.79550848 0.285736246 36.1 . . FAM58A X 153587919 153600045 N . N N . . 0.840139168 20.3 DM STAR syndrome, 300707 (3) FAM60A 12 31280584 31327058 N . N N 0.048020238 53.25577357 0.93695984 15.8 . . FAM63A 1 150996086 151008375 N Viable N Y 0.327847069 72.2231869 8.24E-06 78.6 . . FAM63B 15 58771192 58861900 N . N N 0.025008309 51.42096429 0.189061306 39 DM? . FAM64A 17 6444415 6451469 N . N N -0.058784478 45.21039532 0.239012864 37.4 DM? . FAM65A 16 67518418 67546788 N . N N -1.129422189 6.280025467 0.895578366 17.9 . . FAM65B 6 24804282 25042168 N . N N 0.46481599 79.08201655 0.971310089 12.9 . ?Deafness, autosomal recessive 104, 616515 (3) FAM65C 20 50586108 50691528 N . N N 1.356625739 96.15095213 1.45E-12 95.1 . . FAM69A 1 92832737 92961522 N . N N . . 0.090865226 43.7 . . FAM69B 9 136712570 136724050 N . N N -0.442243367 22.62545581 0.003577159 59.6 . . FAM69C 18 74434099 74457944 N . N N . . 0.016640101 52.6 . . FAM71A 1 212624474 212626778 N . N N 0.754875774 88.23291081 2.16E-10 92.4 DM? . FAM71B 5 157161846 157166264 N . N N 1.313975629 95.89049025 0.002329674 61.4 . . FAM71C 12 99647753 99650046 N . N N 0.675714658 86.31128089 0.029997997 49.6 FTV . FAM71D 14 67189393 67228550 N . N N -0.496832081 20.33339121 . . . . FAM71E1 19 50466785 50476753 N . N N 0.509685942 80.85894542 0.006132393 57.1 . . FAM71E2 19 55354908 55363260 N . N N . . . . . . FAM71F1 7 128709061 128731743 N . N N 0.518145495 81.19465185 8.95E-06 78.3 . . FAM71F2 7 128672288 128687872 N . N N 0.691677544 86.71065579 0.062473892 45.7 . . FAM72A 1 206186179 206204414 N . N N . . . . . . FAM72B 1 121167646 121185539 N . N N . . 0.251829881 37 . . FAM72C 1 143955364 143971965 N . N N . . . . . . FAM72D 1 145096000 145112696 N . N N . . 0.5808181 27.9 . . FAM73A 1 77779624 77879539 N Viable N Y -0.68521557 14.38328413 0.000750459 65.7 . . FAM73B 9 129036621 129072082 N . N Y 0.175067916 62.86971118 0.003518966 59.7 . . FAM76A 1 27725979 27763122 N . N N 0.119374702 58.69074492 0.000561029 66.7 . . FAM76B 11 95768942 95790409 N . N N -0.355230595 26.57290039 0.022449199 51.1 . . FAM78A 9 131258076 131276547 N . N N -0.234224724 33.42015396 0.480800491 30.6 . . FAM78B 1 166057426 166166969 N . N N -0.002587674 49.23887249 0.770974374 22.6 . . FAM81A 15 59372693 59523549 N . N N -0.316758145 28.47137813 0.48707232 30.3 . . FAM81B 5 95391344 95450454 N . N N 0.651439248 85.66880824 5.12E-06 79.5 DM? . FAM83A 8 123178960 123210079 N . N N 1.16742048 94.7097297 0.002865746 60.6 . . FAM83B 6 54846771 54942022 N . N N -0.825577938 11.04358396 7.60E-08 86.5 . . FAM83C 20 35285731 35292401 N . N N 0.591719213 83.86872721 3.49E-05 74.8 . . FAM83D 20 38926312 38953106 N . N N 0.056782277 53.85194189 2.58E-05 75.6 . . FAM83E 19 48600810 48614854 N . N N 1.228408518 95.29432193 6.62E-06 79.1 . . FAM83F 22 39994949 40043529 N . N N 1.007928055 92.86913237 0.000400741 67.7 . . FAM83G 17 18968789 19004804 N . N Y -0.535809982 18.74746773 0.015726782 52.9 . . FAM83H 8 143723933 143733801 N . N N 0.246731277 67.26283498 0.88482471 18.4 DM Amelogenesis imperfecta, type III, 130900 (3) FAM84A 2 14632686 14650814 N . N N 0.014332026 50.57012213 0.087816303 43.9 . . FAM84B 8 126552442 126558393 N . N N -0.135728413 39.6828153 0.015691006 52.9 . . FAM86B1 8 12182096 12194133 N . N N . . 0.744460341 23.3 . . FAM86B2 8 12425614 12436343 N . N N . . 0.674121349 25.4 . . FAM86C1 11 71787510 71801236 N . N N 1.283660986 95.69369682 1.48E-08 88.5 . . FAM89A 1 231018958 231040246 N . N N . . 0.009640542 55.1 . . FAM89B 11 65572349 65574198 N . N N . . 0.029138465 49.8 . . FAM8A1 6 17600355 17611719 N . N N -0.188249534 36.2562945 0.170367796 39.7 DM? . FAM90A1 12 8221260 8227618 N . N N 2.226070996 98.88290791 6.49E-12 94.5 . . FAM90A26 4 9170409 9176730 N . N N . . . . . . FAM91A1 8 123768456 123815452 N . N N -0.69830864 13.97233316 0.515693527 29.5 DM? . FAM92A1 8 93698561 93731527 N . N N -0.031643 47.17832957 3.69E-05 74.7 . . FAM92B 16 85098358 85112508 N . N N 0.622382754 84.82375412 3.59E-11 93.6 . . FAM96A 15 64072559 64094018 N . N Y -0.20053791 35.44596863 0.013450896 53.7 . . FAM96B 16 66932055 66934423 N . N N -0.072985841 44.23221624 0.002103752 61.7 . . FAM98A 2 33583658 33599382 N . N N 0.171240551 62.60924929 0.689414914 24.9 . . FAM98B 15 38454127 38487710 N . N N -0.083207293 43.33506975 0.394827183 32.9 . . FAM98C 19 38403135 38409088 N . N N 0.988139789 92.62024657 3.57E-10 92.1 . . FAM9A X 8790795 8801383 N . N N 0.681305964 86.45598194 2.86E-05 75.3 . . FAM9B X 9024232 9164639 N . N N 0.351971606 73.48498003 9.50E-05 72.1 . . FAM9C X 13035618 13044682 N . N N 0.381984452 75.00723505 5.54E-05 73.6 DM? . FAN1 15 30903852 30943108 N Viable N Y 0.520677151 81.26989639 1.47E-15 97.2 DM Interstitial nephritis, karyomegalic, 614817 (3) FANCA 16 89737549 89816657 N . N Y -0.291025439 29.9589049 2.08E-34 99.8 DM Fanconi anemia, complementation group A, 227650 (3) FANCB X 14843407 14873069 N . N Y -0.126159463 40.331076 0.988393525 10.3 DM Fanconi anemia, complementation group B, 300514 (3) FANCC 9 95099054 95317709 N . N Y -0.356839227 26.4918678 5.88E-10 91.6 DM Fanconi anemia, complementation group C, 227645 (3) FANCD2OS 3 10081317 10108231 N . N N 0.907368144 91.23111651 0.048454315 47.2 . . FANCE 6 35452361 35467103 N . N N 0.593326484 83.93239567 0.003138899 60.1 DM Fanconi anemia, complementation group E, 600901 (3) FANCF 11 22622519 22626787 N . N N 0.115849285 58.42449499 0.003814534 59.3 DM Fanconi anemia, complementation group F, 603467 (3) FANCG 9 35073835 35080016 N . N Y 0.924582316 91.59576315 9.75E-09 88.9 DM Fanconi anemia, complementation group G, 614082 (3) FANCI 15 89243949 89317261 N . N Y -0.720253809 13.39352897 5.17E-19 98.4 DM Fanconi anemia, complementation group I, 609053 (3) FANCL 2 58159243 58241372 Y Viable N Y 0.599873048 84.11761301 2.10E-08 88.1 DM Fanconi anemia, complementation group L, 614083 (3) FANCM 14 45135940 45200890 N . N Y 0.961391665 92.21508364 6.24E-12 94.5 DM . FANK1 10 125896539 126009592 N . N N 0.361535788 73.98853968 0.000115654 71.4 . . FAP 2 162170684 162245151 N . N Y -1.026550089 7.524454477 3.27E-11 93.6 . . FAR1 11 13668670 13732346 N . N N -0.28674597 30.23094287 0.879567462 18.6 . Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3) FAR2 12 29149103 29340980 N Viable N Y -0.144992854 39.06349482 0.922173888 16.6 . . FARP1 13 98142562 98455176 N Viable N Y -0.548621403 18.25548417 0.045263074 47.5 . . FARP2 2 241356243 241494841 N . N Y 1.55576962 97.25068009 1.98E-20 98.8 DP . FARS2 6 5261044 5771580 N . N N 0.21530172 65.35278115 4.54E-06 79.7 DM Combined oxidative phosphorylation deficiency 14, 614946 (3) FARSB 2 222570536 222656337 N . N N -0.307188276 29.02703016 0.900979754 17.7 . . FAS 10 88990531 89015785 N . N Y 0.243250221 67.10655785 0.726173344 23.9 DM {Autoimmune lymphoproliferative syndrome}, 601859 (3); Squamous cell carcinoma, burn scar-related, somatic (3); Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) FASLG 1 172659018 172666874 N . N Y 0.000282778 49.45881808 0.611670214 27.1 DM Autoimmune lymphoproliferative syndrome, type IB, 601859 (3); {Lung cancer, susceptibility to}, 211980 (3) FASTK 7 151076593 151080866 N Viable N Y -0.060546352 45.05411819 0.030531352 49.5 . . FASTKD1 2 169529749 169573875 N . N N 1.135797669 94.39717544 1.65E-12 95.1 FTV . FASTKD2 2 206765357 206792509 N . N N 0.160061943 61.76419517 4.03E-06 80 DM ?Mitochondrial complex IV deficiency, 220110 (3) FASTKD3 5 7859159 7869037 N . N N -0.191772697 36.06528911 2.49E-10 92.3 . . FASTKD5 20 3146519 3159897 N . N N 0.270845681 68.73878567 3.43E-06 80.3 . . FAT2 5 151504093 151568944 N . N Y 0.710937291 87.15633501 7.35E-11 93.1 DM? . FAT3 11 92352096 92896470 N . N Y . . 0.999999814 1.2 DM? . FATE1 X 151716035 151723194 N . N N -0.018550615 48.01759565 0.03446373 49 . . FAU 11 65120628 65122473 N . N N 0.130554386 59.44897841 0.768145175 22.7 . . FAXC 6 99271169 99350062 N . N N -0.337353053 27.42374255 0.872413322 19 . . FAXDC2 5 154818491 154859252 N . N N 0.883088819 90.78543729 1.48E-06 81.9 . . FBF1 17 75909574 75941140 N . N N 1.280452044 95.64739249 1.14E-19 98.6 . . FBLIM1 1 15756607 15786594 N . N Y -0.166544931 37.66857672 0.00078906 65.5 DP . FBLL1 5 168529116 168530634 N . N N . . . . . . FBLN2 3 13549131 13638422 N . N N 0.367739397 74.24321352 0.629825153 26.7 DM . FBLN5 14 91869412 91947987 N . N Y -0.25849473 31.97314349 0.995790693 8.1 DM Cutis laxa, autosomal recessive, type IA, 219100 (3); Cutis laxa, autosomal dominant 2, 614434 (3); Macular degeneration, age-related, 3, 608895 (3) FBLN7 2 112138385 112188216 N Viable N Y 0.17587319 62.9275916 1.58E-05 76.9 . . FBN2 5 128257909 128659185 N . N Y -1.415813552 3.831683741 0.999999992 0.8 DM Contractural arachnodactyly, congenital, 121050 (3); Macular degeneration, early-onset, 616118 (3) FBN3 19 8065402 8149846 N . N N 5.419240442 99.86108699 1.35E-27 99.5 DP . FBP1 9 94603133 94640249 N . N N 0.050084766 53.41783875 0.098590793 43.2 DM Fructose-1,6-bisphosphatase deficiency, 229700 (3) FBRS 16 30658431 30670814 N . N N . . 0.981524682 11.5 . . FBRSL1 12 132489551 132585188 N . N N . . . . . . FBXL12 19 9810267 9827816 N . N N 0.352119595 73.52549632 0.014518338 53.3 . . FBXL13 7 102813230 103074843 N . N N 0.086945846 56.21346299 1.66E-11 94 . . FBXL14 12 1565993 1594165 N . N N -0.823301011 11.09567633 0.405270086 32.6 . . FBXL15 10 102419189 102423136 N . N N 0.063983137 54.4886265 0.002101117 61.7 . . FBXL17 5 107859035 108382098 N . N N . . 0.977900472 12.1 . . FBXL18 7 5431335 5513798 N . N N -0.375521858 25.65838977 2.57E-07 84.8 . . FBXL19 16 30923055 30948783 N . N N -0.30734089 29.00966603 0.982522203 11.4 . . FBXL2 3 33277025 33403662 N . N N -0.506249788 19.96874457 0.216479061 38.2 . . FBXL22 15 63597353 63602428 N Viable N Y 0.145710487 60.67604329 0.000439659 67.4 . . FBXL3 13 76992598 77027195 N . N Y -0.469691512 21.4504833 0.251434579 37.1 . . FBXL4 6 98868538 98948006 N . N N -0.350292913 26.77548185 0.007908799 56 . Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3) FBXL6 8 144355431 144359376 N . N N 0.189117027 63.73212942 3.70E-06 80.1 DM? . FBXL7 5 15500196 15939795 N . N N -0.907598212 9.440296348 0.200106852 38.7 . . FBXL8 16 67159931 67164570 N . N N . . 0.014439075 53.4 . . FBXO10 9 37510892 37576349 N . N N -0.898843902 9.613937605 0.001492532 63 DM? . FBXO15 18 74073353 74147865 N . N Y 0.348442859 73.32291486 0.027470177 50.1 . . FBXO17 19 38941401 38975910 N . N N 0.324827936 72.00902935 1.23E-07 85.9 . . FBXO18 10 5890203 5937594 N . N N -1.001985877 7.842796782 0.755821848 23 DM? . FBXO2 1 11648367 11655785 N Viable N Y 0.027424541 51.61775771 0.273382986 36.4 . . FBXO21 12 117141988 117190531 N . N N -0.963951725 8.491057475 0.990625619 9.8 . . FBXO22 15 75903859 75942510 N . N N -0.520298739 19.46518493 0.893814403 18 . . FBXO24 7 100583982 100601117 N . N N 0.445177058 78.10962551 0.141279968 41 . . FBXO25 8 406428 477967 N . N N -0.286592944 30.25409504 0.310315222 35.4 . . FBXO27 19 38990714 39032785 N . N N 0.038754674 52.485964 2.08E-10 92.4 . . FBXO28 1 224114087 224162047 N . N N 0.080902701 55.81408809 0.930139055 16.1 . . FBXO3 11 33740939 33774543 N . N N -0.110348593 41.44238004 0.969760026 13 . . FBXO30 6 145793502 145814753 N . N N -0.515361182 19.6272501 0.987340441 10.5 . . FBXO31 16 87326987 87392142 N Viable N Y -0.923562311 9.156682294 0.911167117 17.2 . ?Mental retardation, autosomal recessive 45, 615979 (3) FBXO32 8 123497889 123541206 N . N Y -0.234224724 33.42015396 0.972568188 12.8 . . FBXO33 14 39397669 39432500 N Viable N Y -0.36545112 26.11564508 0.986077142 10.8 . . FBXO34 14 55271303 55361918 N . N N -0.445919635 22.46339063 0.004598477 58.6 . . FBXO36 2 229922302 230013109 N Viable N Y 0.908323774 91.24848064 3.23E-06 80.4 . . FBXO38 5 148383935 148442836 N . N N -0.894207554 9.694970192 0.99996218 3.1 . Neuronopathy, distal hereditary motor, type IID, 615575 (3) FBXO39 17 6776223 6797101 N . N N 0.546393986 82.29437981 0.025018434 50.5 . . FBXO4 5 41925254 41941743 N . N Y -0.2707828 31.23227412 7.11E-05 72.9 . . FBXO40 3 121593119 121630295 N . N N 0.588847047 83.80505875 3.64E-08 87.4 . . FBXO41 2 73254682 73284431 N Viable N Y . . 0.951773201 14.6 . . FBXO42 1 16246839 16352454 N . N N -1.154262141 6.048503791 0.975946027 12.3 . . FBXO43 8 100133360 100145800 N . N N -0.265845998 31.52167622 0.000150255 70.6 . . FBXO44 1 11654375 11663327 N Viable N Y 0.906555705 91.21375239 3.60E-05 74.7 . . FBXO46 19 45710629 45730904 N . N N -0.982633595 8.195867338 0.876437042 18.8 . . FBXO47 17 38936432 38967402 N . N Y 1.090469244 93.85888754 0.014052557 53.5 . . FBXO48 2 68459419 68467258 N . N N 0.048020238 53.25577357 0.016665308 52.6 . . FBXO6 1 11664124 11674354 N . N N 0.330566867 72.36788794 0.000485731 67.1 . . FBXO7 22 32474676 32498829 N . N Y 0.231264514 66.30780807 0.098722423 43.2 DM Parkinson disease 15, autosomal recessive, 260300 (3) FBXO8 4 174236658 174284264 N Viable N Y -0.046649065 46.09017769 0.836833762 20.4 . . FBXO9 6 53051991 53100873 N Viable N Y -0.151691433 38.58887538 0.734879395 23.6 . . FBXW10 17 18744024 18779349 N . N N 1.428787046 96.54453898 . . . . FBXW11 5 171861549 172006873 N . N N -0.612251503 16.42067489 0.997161484 7.4 DM? . FBXW12 3 48372219 48401259 N . N N 0.047365707 53.22683336 1.97E-07 85.2 . . FBXW2 9 120751978 120793412 N Viable N Y -0.132857585 39.9027609 0.976204028 12.2 . . FBXW4 10 101610664 101695295 N . N N -0.490286222 20.58227702 0.00069101 66 DM . FBXW5 9 136940435 136944696 N . N N -0.289161662 30.12675812 1.16E-08 88.8 . . FBXW9 19 12688053 12696643 N Viable N Y 0.099886544 57.20321815 2.00E-09 90.5 . . FCAMR 1 206957965 206970625 N . N Y 0.541611524 82.1265266 8.00E-06 78.6 . . FCAR 19 54874248 54890472 N . N N 1.19456775 94.96440354 0.000228787 69.4 DFP . FCER1A 1 159289714 159308224 N . N Y 0.274219089 68.94136714 0.002558028 61 DFP . FCER2 19 7688758 7702146 N . N Y 1.598034205 97.48798981 1.50E-09 90.8 FP . FCF1 14 74713144 74738620 N . N N 0.209411733 65.03443885 0.934256695 15.9 . . FCGBP 19 39863323 39934626 N Viable N Y 7.697810369 99.92475546 . . . . FCGR1A 1 149782671 149792518 N . N Y 0.780762778 88.79435087 0.971633432 12.8 DM [IgG receptor I, phagocytic, familial deficiency of] (3) FCGR1B 1 121087345 121096310 N . N N 0.779806888 88.78277479 0.676508623 25.3 . . FCGR2A 1 161505430 161524013 N . N Y 0.589500178 83.82242287 0.000150862 70.6 DFP {Lupus nephritis, susceptibility to}, 152700 (3); {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3) FCGR2B 1 161581311 161678654 N . N Y 0.440244459 77.90125601 0.047402608 47.3 DFP {Systemic lupus erythematosus, susceptibility to}, 152700 (3); {Malaria, resistance to}, 611162 (3) FCGR3A 1 161541759 161550737 N . N Y 0.688955753 86.6296232 1.22E-05 77.6 DFP Immunodeficiency 20, 615707 (3) FCGR3B 1 161623196 161631963 N . N N 1.082009205 93.76627887 3.30E-05 75 DFP Neutropenia, alloimmune neonatal (3) FCGRT 19 49506816 49526333 N . N Y 0.111065501 58.08300052 0.82558718 20.8 FP . FCHO1 19 17747718 17788568 N . N N 0.040166042 52.56699659 0.998992548 5.9 . . FCHO2 5 72955981 73090522 N . N N -0.221936642 34.22469179 0.999038489 5.9 . . FCHSD1 5 141639302 141651419 N . N N 1.713625442 97.94524512 1.92E-16 97.6 . . FCHSD2 11 72836745 73142261 N . N N -0.657116328 15.15309371 0.994752587 8.5 . . FCMR 1 206904386 206923247 N Viable N Y . . . . . . FCN1 9 134905890 134917963 N . N Y 0.319387303 71.73699138 1.26E-11 94.1 . . FCN2 9 134880812 134887520 N . N N 0.592369826 83.88609134 1.93E-09 90.5 DM . FCN3 1 27369112 27374824 N . N N 1.254600192 95.47375123 0.017251338 52.4 DFP Immunodeficiency due to ficolin 3 deficiency, 613860 (3) FCRL1 1 157794403 157820105 N . N N 0.283785611 69.53174741 0.001595267 62.8 . . FCRL2 1 157745733 157777132 N . N N 0.080247996 55.73305551 0.00016004 70.4 . . FCRL3 1 157674321 157700857 N . N N 1.013984552 92.92122475 4.56E-18 98.2 DP . FCRL4 1 157573749 157598080 N . N N 0.90766125 91.23690456 1.60E-07 85.5 . . FCRL5 1 157513377 157552520 N . N N 0.591877629 83.87451525 7.49E-14 96.2 . . FCRL6 1 159800511 159816251 N . N N 0.826080348 89.67992128 5.08E-14 96.3 DM? . FCRLA 1 161706972 161714352 N Viable N Y 0.719925571 87.43416102 0.000166358 70.4 . . FCRLB 1 161721563 161728143 N . N Y 0.902877564 91.13850784 1.20E-08 88.7 . . FDCSP 4 70226071 70235252 N . N N 0.175573187 62.89865139 0.358744942 34 . . FDPS 1 155308748 155320666 N . N N -0.352359149 26.65972102 0.001751278 62.4 . . FDX1L 19 10310045 10316015 N . N N 0.06589658 54.61017538 0.003189351 60.1 . . FDXACB1 11 111874056 111881243 N Viable N Y 0.479017244 79.71291312 3.15E-07 84.4 . . FDXR 17 74862497 74873031 N . N N 1.378640464 96.27828905 0.000894955 65.2 . . FEM1A 19 4791681 4801273 N . N N -0.465709488 21.64727673 . . DM? . FEM1B 15 68277803 68295865 N . N Y -0.84389619 10.70208948 0.540948667 28.9 . . FEM1C 5 115520908 115544894 N . N N -0.841981514 10.74839382 0.624676085 26.8 . . FER 5 108747822 109196841 N . N N -1.323985091 4.532036812 0.968420467 13.2 . . FER1L5 2 96642737 96704887 N . N N . . . . . . FER1L6 8 123851987 124120061 N . N N 2.408426772 99.11442959 8.00E-30 99.7 . . FERD3L 7 19144782 19145421 N . N Y -0.410624002 23.91618915 0.258156359 36.8 . . FETUB 3 186635969 186653141 N . N Y 0.894417541 91.02853505 6.88E-05 72.9 . . FEZ1 11 125445745 125496317 N . N Y -0.291377772 29.93575273 0.540112166 28.9 . . FEZ2 2 36531805 36646087 N . N N -0.391788739 24.87121607 3.59E-05 74.7 . . FEZF2 3 62369681 62374324 N . N Y -0.272697012 31.12808937 0.902033504 17.7 DM? . FFAR1 19 35351552 35353862 N Viable N Y . . 0.001370255 63.5 DM . FFAR2 19 35443907 35451767 N . N Y 0.119525236 58.70810905 0.000643947 66.2 . . FFAR3 19 35358460 35360485 N . N Y 1.534317997 97.13491926 . . . . FFAR4 10 93566665 93604480 N . N Y -0.244445663 32.81240956 0.005572493 57.6 . {Obesity, susceptibility to}, 607514 (3) FGA 4 154583126 154590766 N . N Y -0.793793488 11.68605661 6.35E-10 91.5 DM Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, congenital, 616004 (3); Amyloidosis, familial visceral, 105200 (3); Afibrinogenemia, congenital, 202400 (3) FGB 4 154562956 154571086 N . N N 0.340939791 72.94090409 0.195390176 38.8 DM Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3); Hypofibrinogenemia, congenital, 202400 (3) FGD1 X 54445454 54496166 N . N N -0.487414582 20.68067373 0.972835312 12.7 DM Aarskog-Scott syndrome, 305400 (3); Mental retardation, X-linked syndromic 16, 305400 (3) FGD2 6 37005646 37029070 N . N N 0.539197001 82.0165538 4.71E-05 74 . Glucocorticoid deficiency 2, 607398 (3) FGD3 9 92947451 93036236 N . N N -0.380155411 25.4558083 8.70E-06 78.4 DM? Glucocorticoid deficiency 3 (2) FGD4 12 32399529 32646050 N . N Y 0.01926743 51.03895352 0.335778542 34.7 DM Charcot-Marie-Tooth disease, type 4H, 609311 (3) FGD6 12 95076749 95217482 N . N N 0.22054812 65.65954738 0.995227689 8.3 . . FGF1 5 142592178 142698070 N . N Y 0.019921484 51.06789373 0.320471736 35.1 DP . FGF11 17 7438273 7444937 N . N Y -0.025096816 47.5834925 0.068195836 45.2 . . FGF12 3 192139395 192767764 N . N N -0.275568538 30.94287203 0.114210585 42.4 . . FGF13 X 138614731 139222777 N . N N 0.185945882 63.57006425 0.96422364 13.5 DM? . FGF14 13 101710804 102402457 N . N Y -0.053195214 45.56346588 0.724525963 23.9 DM Spinocerebellar ataxia 27, 609307 (3) FGF17 8 22042398 22048809 N . N Y -0.071071979 44.35376512 0.86533156 19.3 DM Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3) FGF2 4 122826708 122898236 N Viable N Y -0.095495045 42.38583087 . . DP . FGF20 8 16992169 17002181 N . N Y 0.276939876 69.10922035 0.702854984 24.5 DFP ?Renal hypodysplasia/aplasia 2, 615721 (3) FGF21 19 48755559 48758330 N . N Y 0.509685942 80.85894542 0.21300202 38.3 . . FGF22 19 639879 644371 N Viable N Y . . 0.000103154 71.8 DM? . FGF23 12 4368227 4379728 N . N Y -0.150734446 38.66411993 0.027989665 50 DM Hypophosphatemic rickets, autosomal dominant, 193100 (3); Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) FGF5 4 80266599 80336680 N . N Y 0.140120824 60.21878798 4.32E-05 74.3 . Trichomegaly, 190330 (3) FGF6 12 4428155 4445614 N . N Y 0.139164133 60.1377554 0.000705758 65.9 . . FGF7 15 49423096 49488775 N Viable N Y 0.464520293 79.05307634 0.874992688 18.9 . . FGFBP1 4 15935569 15938740 N . N N 0.44120081 77.9417723 0.001037031 64.6 DFP . FGFBP2 4 15960243 15969309 N . N N 0.562208663 82.80951554 1.14E-07 86 . . FGFBP3 10 91906589 91909483 N Viable N Y . . 0.001712168 62.5 . . FGFR1OP2 12 26938383 26966650 N . N N -0.372151226 25.76836256 0.429728003 32 . . FGFR4 5 177086886 177098144 N Viable N Y 0.190380285 63.75528159 1.30E-06 82.2 DFP {Cancer progression/metastasis} (3) FGGY 1 59296638 59767675 N . N N 0.69948087 86.878509 1.21E-11 94.2 . . FGL1 8 17864380 17910365 N . N Y 1.133727624 94.37402327 1.87E-16 97.6 . . FGR 1 27612064 27635277 N . N Y -0.729431296 13.17937142 0.177174439 39.5 . . FHAD1 1 15247272 15400283 N . N N . . . . . . FHDC1 4 152936352 152979696 N . N N 1.556541607 97.25646814 0.024454127 50.6 . . FHIT 3 59749310 61251459 N . N Y -0.000674037 49.38936158 0.001391839 63.4 . . FHL1 X 136146702 136211359 N . N Y 0.051847216 53.50465937 0.918480756 16.8 DM Scapuloperoneal myopathy, X-linked dominant, 300695 (3); Myopathy, X-linked, with postural muscle atrophy, 300696 (3); Myopathy, reducing body, X-linked, severe early-onset, 300717 (3); Myopathy, reducing body, X-linked, childhood-onset, 300718 (3); Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) FHL2 2 105357712 105438513 N . N Y -0.218261615 34.41569717 0.002880602 60.5 DP . FHL3 1 37996770 38005606 N . N N 0.237660296 66.68403079 0.534417266 29 . Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) FHL5 6 96562548 96616636 N . N Y 0.276132196 69.08028014 1.68E-08 88.3 . Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) FHOD1 16 67229387 67247658 N . N N -0.363900171 26.1735255 9.46E-11 93 . . FIBCD1 9 130902438 130939286 N . N N 0.774362215 88.6322857 7.56E-06 78.8 . . FIBIN 11 26994184 26996121 N . N N 0.317324799 71.58071424 0.308532919 35.5 . . FIBP 11 65883741 65888539 N . N N -0.011852785 48.56745963 0.014722785 53.2 . . FICD 12 108515185 108525837 N . N N -0.305274657 29.1717312 0.006385822 57 . . FIG4 6 109691312 109825428 N . N N -1.130647808 6.251085258 6.59E-27 99.5 DM Charcot-Marie-Tooth disease, type 4J, 611228 (3); Amyotrophic lateral sclerosis 11, 612577 (3); Yunis-Varon syndrome, 216340 (3); ?Polymicrogyria, bilateral temporooccipital, 612691 (3) FIGF X 15345591 15384376 N . N Y 0.235747143 66.55090583 0.010906328 54.5 . . FIGLA 2 70777310 70790643 N . N Y 0.177486232 63.00862418 0.731738228 23.7 DM Premature ovarian failure 6, 612310 (3) FIGNL1 7 50444128 50542535 N . N N -0.353012585 26.62499276 0.000108679 71.6 . . FILIP1 6 75291859 75493738 N . N N -0.632255374 15.83608265 1.85E-07 85.3 . . FILIP1L 3 99830141 100114513 N . N N -0.127621085 40.2211032 0.000245912 69.2 . . FIP1L1 4 53377643 53460861 N . N N -0.972412709 8.334780344 0.600789667 27.4 DM . FIS1 7 101239458 101252316 N . N N 0.391400129 75.43555015 0.040178577 48.3 . . FITM1 14 24131275 24132849 N . N N 0.459076404 78.76946229 0.072113819 44.9 . . FITM2 20 44302838 44311169 N . N N -0.060698235 45.04254211 0.000110417 71.5 . . FIZ1 19 55591371 55601970 N . N N . . 0.450714684 31.4 . . FJX1 11 35618419 35620868 N Viable N Y . . 0.823951147 20.8 . . FKBP10 17 41812680 41823217 N . N Y -0.976893157 8.29426405 0.000807425 65.5 DM Osteogenesis imperfecta, type XI, 610968 (3); Bruck syndrome 1, 259450 (3) FKBP11 12 48921518 48926474 N . N N -0.24459911 32.77768131 2.23E-05 76 . . FKBP14 7 30010587 30026684 N . N N -0.252102165 32.32621404 4.19E-05 74.3 DM Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) FKBP15 9 113161006 113221361 N . N N 1.157513327 94.58818082 1.85E-07 85.3 . . FKBP1B 2 24049701 24063681 N . N Y -0.067396649 44.56792267 0.008885327 55.4 . . FKBP1C 6 63211446 63213024 N . N N . . 0.000605467 66.4 . . FKBP2 11 64241003 64244132 N . N N 0.093995484 56.69387046 0.307159556 35.6 . . FKBP3 14 45115600 45135319 N . N N -0.077618099 43.83284135 0.812901762 21.2 . . FKBP6 7 73328164 73358637 N . N Y 0.426194468 77.17775077 0.130600639 41.5 DM . FKBP7 2 178463664 178478600 N . N N -0.402163571 24.28662384 3.16E-05 75.1 . . FKBP9 7 32957404 33006931 N . N Y 0.717205629 87.34155235 0.072366214 44.9 . . FKBPL 6 32128707 32130291 N . N N -0.271739892 31.18018174 5.35E-05 73.7 DM . FKSG51 4 3538044 3538418 N . N N . . . . . . FKSG52 5 60430738 60431112 N . N N . . . . . . FKSG54 7 23638162 23638536 N . N N . . . . . . FKSG56 9 92227001 92227375 N . N N . . . . . . FKSG59 8 128118011 128118385 N . N N . . . . . . FKSG61 14 77416398 77416772 N . N N . . . . . . FKSG62 15 47133652 47134026 N . N N . . . . . . FKSG63 16 70224358 70224738 N . N N . . . . . . FKSG66 15 40683694 40684068 N . N N . . . . . . FKSG68 21 35898055 35898429 N . N N . . . . . . FKSG70 X 42285229 42285603 N . N N . . . . . . FLAD1 1 154983338 154993111 N . N N -0.083860557 43.30034149 0.091793511 43.7 . . FLG2 1 152348735 152360006 N . N N 0.142948115 60.40400532 4.65E-41 99.9 . . FLJ20019 2 109344229 109344918 N . N N . . . . . . FLOT1 6 30727709 30742733 N . N Y -0.073790488 44.15118365 0.015273438 53 . . FLOT2 17 28879335 28897679 N . N Y -0.190967704 36.11159345 0.017234347 52.4 . . FLRT1 11 64103188 64119173 N . N N 0.025159982 51.43254037 0.546319767 28.7 . . FLT3 13 28003274 28100592 N . N Y -0.048913667 45.90496035 0.609047701 27.2 DP Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3); Leukemia, acute lymphoblastic, somatic, 613065 (3) FLT3LG 19 49474207 49486231 N . N Y -0.03259986 47.11466111 0.950828698 14.7 . . FLVCR2 14 75578617 75663214 N . N N 0.003304686 49.75979626 0.000368276 68 DM Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3) FLYWCH1 16 2911937 2951208 N . N N 3.187583265 99.60062511 . . . . FLYWCH2 16 2883186 2899382 N . N N -0.101084162 42.05591248 0.58053708 28 . . FMN2 1 240014348 240475189 N . N Y 0.253751309 67.68536204 0.994502609 8.6 DM Mental retardation, autosomal recessive 47, 616193 (3) FMNL1 17 45221444 45247320 N . N N -0.708532731 13.67714302 0.999687036 4.7 . . FMNL2 2 152335237 152649834 N . N N -0.662556357 14.97366441 0.996999397 7.6 . . FMNL3 12 49636499 49708165 N Viable N Y -1.048919759 7.235052382 0.356499504 34 . . FMO1 1 171248471 171285978 N . N N 0.602743172 84.19285756 5.10E-07 83.7 DP . FMO2 1 171185208 171211230 N . N N 1.625330166 97.59217457 0.00129018 63.7 FP . FMO3 1 171090877 171117819 N . N N 0.899200844 91.07483938 2.83E-09 90.2 DM Trimethylaminuria, 602079 (3) FMO4 1 171314208 171342084 N . N N 0.458269625 78.73473404 2.41E-09 90.3 FP . FMO5 1 147175351 147243050 N . N N 0.558680874 82.74005904 3.69E-15 96.9 FP . FMOD 1 203340628 203351489 N . N Y 0.251860006 67.55802512 0.049581381 47.1 . . FMR1 X 147911951 147951125 N . N Y 0.767667839 88.51073682 0.127197887 41.7 DM Fragile X syndrome, 300624 (3); Fragile X tremor/ataxia syndrome, 300623 (3); Premature ovarian failure 1, 311360 (3) FMR1NB X 147981329 148026667 N . N N -0.091667236 42.70417318 0.18015421 39.3 . . FN3K 17 82735575 82751197 N . N Y -0.14882052 38.83197314 1.64E-05 76.8 DM? . FN3KRP 17 82716683 82730328 N . N N 0.605463152 84.30861839 3.66E-07 84.2 . . FNBP1 9 129887187 130043194 N . N N -0.452617031 22.15662441 0.846297746 20 DM? . FNBP1L 1 93448131 93554661 N Viable N Y -0.174200506 37.13028882 0.965504529 13.5 . . FNBP4 11 47716517 47767443 N . N N -0.427087162 23.23320021 0.999993423 2.3 DM? . FNDC1 6 159169397 159272109 N . N N 1.586196123 97.41274527 3.07E-07 84.5 . . FNDC3A 13 48975912 49209779 N . N N -1.237476756 5.226601841 0.999884368 3.9 . . FNDC4 2 27491883 27495245 N . N N -0.138599374 39.52075013 0.759219016 22.9 . . FNDC5 1 32862268 32872482 N . N N . . 0.406509132 32.6 . . FNDC7 1 108712657 108742740 N . N N 0.950768765 92.01829021 0.000318365 68.5 . . FNDC8 17 35121579 35130732 N . N N 0.163586571 62.05938531 1.90E-05 76.4 . . FNDC9 5 157341600 157345721 N . N N 1.153224527 94.53608844 0.003993824 59.1 . . FNIP1 5 131641714 131797063 N . N Y -0.831311259 10.95676333 0.999819445 4.2 DM . FNIP2 4 158769138 158908049 N . N N -0.735534504 13.0115182 0.997777002 7.1 . . FNTA 8 43034194 43085788 N . N N -0.45372795 22.13347225 0.988212602 10.3 . . FO082796.1 9 138281751 138294550 N . N N . . . . . . FO538757.2 1 184923 200322 N . N N . . . . . . FO538757.3 1 182393 184158 N . N N . . . . . . FOCAD 9 20658309 20995955 N . N N -0.036681894 46.79631881 5.37E-16 97.4 . . FOLH1 11 49146635 49208670 N . N Y -0.424366955 23.37211321 0.253396885 37 FP . FOLR2 11 72216601 72221950 N . N Y 0.744201416 87.96666088 6.17E-07 83.4 . . FOLR3 11 72114869 72139892 N . N N . . 0.01086744 54.6 . . FOPNL 16 15865720 15888625 N . N N 0.86984981 90.57706778 9.47E-06 78.2 . . FOSB 19 45467995 45475179 N Viable N Y -0.339267298 27.29640563 0.852916177 19.8 . . FOXA3 19 45863989 45873797 N . N Y -0.206930636 35.10447416 0.395510308 32.9 DM? . FOXB2 9 77019655 77020953 N . N N -0.064373744 44.83996064 2.39E-06 80.9 . . FOXD2 1 47436017 47440691 N . N Y . . . . . . FOXD4 9 116231 118204 N . N N 1.79171188 98.16519072 . . DM . FOXD4L1 2 113498665 113501155 N . N N 1.723849598 97.97997338 . . . . FOXD4L3 9 68302867 68304905 N . N N . . . . . . FOXD4L4 9 65736555 65738784 N . N N . . . . . . FOXD4L5 9 65282101 65285209 N . N N . . . . . . FOXD4L6 9 41126430 41128463 N . N N . . . . . . FOXE3 1 47416072 47418052 N . N Y . . . . DM Anterior segment mesenchymal dysgenesis, 107250 (3); Aphakia, congenital primary, 610256 (3) FOXI2 10 127737235 127741186 N Viable N Y 0.406406543 76.17063148 1.60E-05 76.9 . . FOXJ2 12 8032703 8055503 N . N N -0.328740556 27.78838919 0.998394612 6.6 . . FOXK1 7 4682309 4771443 N . N Y -1.170226657 5.886438618 0.962670921 13.7 . . FOXK2 17 82519713 82644662 N . N N -0.282615149 30.51455693 0.918748433 16.8 . . FOXL2NB 3 138947234 138953451 N . N N . . . . . . FOXN2 2 48314637 48379294 N . N N -0.788500635 11.77866528 0.392770621 32.9 . . FOXN3 14 89124871 89619149 N . N N -0.234071877 33.43751809 0.90779936 17.4 . . FOXO3 6 108559835 108684774 N Viable N Y -0.340071051 27.25010129 . . . . FOXO4 X 71096197 71103535 N . N Y -0.013766433 48.44591075 0.861869127 19.4 . . FOXO6 1 41361922 41383590 N . N Y . . 0.437580051 31.8 . . FOXR1 11 118971707 118981291 N . N N 0.425238096 77.10250622 0.002926578 60.4 . . FOXR2 X 55623400 55625325 N . N N 0.196318636 64.16623256 0.002566244 61 . . FOXRED1 11 126269055 126278131 N . N N 0.393612399 75.52237078 4.09E-11 93.5 DM Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); Mitochondrial complex I deficiency, 252010 (3) FOXRED2 22 36487190 36507101 N . N N 0.106736329 57.67204955 0.006915467 56.7 . . FOXS1 20 31844301 31845619 N . N Y 1.128944711 94.31035481 0.09963315 43.1 . . FP325317.1 9 43109628 43127172 N . N N . . . . . . FP325331.1 22 47115838 47117217 N . N N . . . . . . FPGS 9 127794597 127814327 N . N Y 0.190879187 63.84789026 0.000112878 71.5 FP . FPGT 1 74198212 74234086 N . N N . . 5.97E-08 86.8 . . FPGT-TNNI3K 1 74198235 74543982 N . N N . . 1.84E-38 99.9 . . FPR1 19 51745172 51804110 N Viable N Y 0.475995728 79.57978816 0.063805813 45.6 DFP . FPR2 19 51752026 51770526 N . N Y -0.171329534 37.29814204 0.01917529 51.9 DM? . FPR3 19 51795163 51826189 N Viable N Y -0.202298558 35.34178387 0.113913458 42.4 . . FRA10AC1 10 93667883 93702572 N . N N 0.44774765 78.23696244 9.72E-10 91.2 . . FRAT1 10 97319267 97321915 N . N Y . . 0.271480885 36.4 . . FRAT2 10 97332497 97334709 N . N Y . . 0.630848044 26.6 . . FREM3 4 143577302 143700675 N . N N . . . . DM? . FRG1 4 189940788 189963204 N . N N 2.688480138 99.30543497 3.67E-06 80.1 . . FRG1BP 20 30377181 30399334 N . N N . . . . . . FRG2 4 190024351 190027257 N . N N . . 0.431237853 31.9 . . FRG2B 10 133623895 133626795 N . N N 2.305477064 98.98709267 0.152494212 40.5 . . FRG2C 3 75664330 75667220 N . N N . . . . . . FRK 6 115931149 116060758 N . N Y 0.116806072 58.51131562 6.59E-10 91.4 FTV . FRMD1 6 168055745 168081557 N . N N 1.389016774 96.33616947 5.15E-13 95.5 . . FRMD3 9 83242990 83538546 N . N N -0.632692809 15.83029461 0.195215062 38.8 . . FRMD4A 10 13643706 14462142 N . N N -0.988888838 8.056954332 0.999986541 2.7 . . FRMD4B 3 69169990 69542583 N . N N 1.228883655 95.30010997 0.807013708 21.4 . . FRMD5 15 43870761 44195252 N Viable N Y -0.674036865 14.64953406 0.991843164 9.5 . . FRMD6 14 51489100 51730727 N . N N -0.302404441 29.33958442 0.438403935 31.7 DP . FRMD7 X 132076993 132128020 N . N Y 0.462902626 78.98361984 0.910660049 17.3 DM Nystagmus 1, congenital, X-linked, 310700 (3); Nystagmus, infantile periodic alternating, X-linked, 310700 (3) FRMD8 11 65386599 65413525 N . N N 0.251860006 67.55802512 0.084290943 44.1 . . FRMPD1 9 37651000 37746904 N . N N 1.026815315 93.11801817 3.53E-10 92.1 . . FRMPD2 10 48156558 48274870 N . N N -0.068402422 44.49846617 1.17E-15 97.2 . . FRMPD3 X 107522450 107605251 N . N N . . 0.91076789 17.2 . . FRMPD4 X 12138466 12724523 N . N Y -0.67087028 14.72477861 0.997190829 7.4 DM . FRS3 6 41770176 41786542 N . N N 0.519251431 81.23516814 0.808550861 21.3 . . FRY 13 32031300 32299122 N . N N -5.00579119 0.09260867 1 0.4 DM . FRZB 2 182833275 182867162 N . N Y -0.164783496 37.74382127 0.125665908 41.8 DM {Osteoarthritis susceptibility 1}, 165720 (3) FSBP 8 94378377 94436952 N . N N . . . . . . FSCB 14 44504342 44507279 N . N N 0.016700113 50.79585576 4.81E-13 95.6 DM? . FSCN1 7 5592823 5606655 N . N Y -0.326978896 27.91572611 0.776273596 22.4 . . FSCN2 17 81528396 81537130 N Viable N Y . . 9.46E-09 89 DM Retinitis pigmentosa 30, 607921 (3) FSCN3 7 127591409 127602144 N . N N 0.301662112 70.59095908 7.76E-12 94.4 . . FSD1 19 4304600 4323843 N . N N -0.38972179 24.96961278 0.732578211 23.7 . . FSD1L 9 105447796 105552433 N . N N . . . . . . FSD2 15 82755362 82806070 N . N N 0.81394517 89.40209527 2.36E-12 94.9 . . FSHB 11 30231016 30235261 N . N Y 0.055523327 53.73618105 0.012899169 53.9 DM Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3) FSIP1 15 39600031 39782830 N . N N 0.786649421 88.91011171 4.51E-07 83.9 . . FSIP2 2 185738628 185833290 N . N N . . 3.22E-08 87.5 . . FSTL1 3 120392293 120451253 Y Viable N Y 0.214194527 65.30647682 0.959341929 14 . . FSTL3 19 676365 683399 N Viable N Y . . 0.418831973 32.3 . . FSTL4 5 133196455 133612564 N . N Y 0.776585991 88.69595416 0.981626121 11.5 DM? . FSTL5 4 161383897 162164035 N . N N 0.235244663 66.5335417 0.002562607 61 DM? . FTCD 21 46136262 46155567 N . N N 1.339205502 96.04097934 4.30E-08 87.2 DM Glutamate formiminotransferase deficiency, 229100 (3) FTCDNL1 2 199760544 199851173 N . N N . . . . . . FTHL17 X 31071241 31072053 N . N N 0.528370887 81.58245066 0.000467383 67.2 FTV . FTL 19 48965301 48966878 N . N N -0.434090717 23.00746657 0.000458653 67.3 DM Hyperferritinemia-cataract syndrome, 600886 (3); Neurodegeneration with brain iron accumulation 3, 606159 (3); L-ferritin deficiency, dominant and recessive, 615604 (3) FTMT 5 121851955 121852833 N . N Y 0.563164925 82.83845575 0.081623987 44.3 DM . FTSJ1 X 48476021 48486364 N Viable N Y 0.231921074 66.33674828 0.96163278 13.8 DM Mental retardation, X-linked 9, 309549 (3) FTSJ2 7 2234231 2242198 N . N N 0.290181792 69.94269839 1.97E-05 76.3 . . FTSJ3 17 63819433 63830012 N . N N -0.600471978 16.69271286 0.484157752 30.4 FTV . FUBP1 1 77944055 77979110 N . N N -0.743480655 12.77999653 0.999972831 3 . . FUBP3 9 130578965 130638352 N . N N -0.468580168 21.49678764 0.862679425 19.4 . . FUCA1 1 23845077 23868294 N . N N 0.134531237 59.82520113 3.39E-08 87.5 DM Fucosidosis, 230000 (3) FUCA2 6 143494811 143511690 N . N N 0.226480797 66.06471031 0.000365584 68 . . FUK 16 70454421 70480274 N . N N 1.688741044 97.86421254 8.48E-16 97.3 . . FUNDC1 X 44523639 44543001 N . N N 0.289077164 69.85587776 0.44069234 31.7 . . FUNDC2 X 155025980 155060303 N . N N 0.046106757 53.06476819 0.841264939 20.2 . . FUOM 10 133355154 133358035 N . N N 0.13805751 60.04514673 0.001601072 62.8 . . FUT1 19 48748011 48755390 N . N Y -0.099974947 42.10800486 0.000508775 67 DM [Bombay phenotype] (3) FUT10 8 33370824 33473422 N . N N -0.002284668 49.2678127 3.08E-07 84.5 . . FUT11 10 73772291 73780251 N . N N -0.390678624 24.91173236 1.26E-05 77.5 . . FUT2 19 48695971 48705950 N . N Y 2.39105608 99.06233721 5.47E-12 94.6 DM {Norwalk virus infection, resistance to} (3); [Bombay phenotype] (3); {Vitamin B12 plasma level QTL1}, 612542 (3) FUT3 19 5842888 5851474 N . N N 1.6272439 97.60375065 0.373828733 33.5 FP [Blood group, Lewis] (3) FUT4 11 94543840 94549898 N . N Y 0.147623843 60.84968455 0.055379992 46.4 . . FUT5 19 5865826 5870540 N . N N 1.361717971 96.19725647 0.002357884 61.3 . . FUT6 19 5830610 5839731 N . N N 0.914207853 91.36424148 0.022129953 51.1 DM Fucosyltransferase 6 deficiency, 613852 (3) FUT7 9 137030174 137033010 N . N Y 1.095104727 93.89361579 0.905391612 17.6 DM . FUT9 6 96015984 96215612 N . N Y -0.424672857 23.343173 0.081371162 44.4 . . FXR2 17 7591230 7614871 N . N Y -0.029577629 47.32881866 0.999770109 4.4 . . FXYD1 19 35138808 35143109 N . N Y 0.160566904 61.79892342 0.233039912 37.6 . . FXYD2 11 117800844 117828698 N . N Y 0.402581894 75.95068588 0.698943754 24.6 DM Hypomagnesemia 2, renal, 154020 (3) FXYD3 19 35115879 35124324 N . N N 0.650336389 85.63407999 0.003432336 59.8 . . FXYD4 10 43371642 43376335 N . N Y 0.123051266 58.96278289 0.052450321 46.7 . . FXYD5 19 35154730 35169883 N . N N 0.241337169 66.9618568 0.464175278 31 . . FXYD6 11 117820075 117877486 N . N N 0.243101669 67.0718296 0.829814384 20.6 . . FXYD6-FXYD2 11 117820163 117876667 N . N N 0.48703021 79.96758697 0.637758563 26.4 . . FXYD7 19 35143250 35154301 N . N N 0.280617659 69.33495399 0.122293437 42 . . FYB 5 39105236 39274528 N Viable N Y -0.094082712 42.53631996 0.792005859 21.9 . . FYCO1 3 45917899 45995824 N . N N 1.692982792 97.88157666 9.67E-13 95.3 DM Cataract 18, autosomal recessive, 610019 (3) FYTTD1 3 197737179 197787596 N . N N -0.232310623 33.58800718 0.829001567 20.7 . . FZD1 7 91264364 91271326 N . N Y -1.042662624 7.333449094 0.344486648 34.4 DFP . FZD10 12 130162459 130165740 N . N Y 0.029640828 51.75088268 . . . . FZD6 8 103298433 103332866 N . N Y -0.561336896 17.87926145 8.03E-08 86.4 DM Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3) FZD7 2 202034587 202038445 N . N Y -1.525793161 3.223939341 0.73019873 23.8 . . FZD8 10 35638249 35642278 N . N Y -1.084009665 6.725704694 . . . . FZD9 7 73433783 73436120 N . N Y -1.210617064 5.469699601 . . DM . G0S2 1 209675420 209676388 N . N Y 0.259064403 67.99212826 0.153689954 40.4 . . G6PC 17 42900797 42913369 N . N Y -0.086882719 43.06881982 0.001811356 62.3 DM Glycogen storage disease Ia, 232200 (3) G6PC2 2 168901240 168910000 N . N Y 0.636432699 85.26364531 1.91E-09 90.5 DM? . G6PC3 17 44070735 44076344 N . N Y -0.405837712 24.10719454 1.07E-05 77.8 DM Neutropenia, severe congenital 4, autosomal recessive, 612541 (3); Dursun syndrome, 612541 (3) GAA 17 80101556 80119879 N . N Y 0.155890926 61.41691266 4.62E-11 93.4 DM Glycogen storage disease II, 232300 (3) GAB2 11 78215297 78418348 N . N Y -0.351099457 26.71181339 0.998921871 6 DP . GAB3 X 154675249 154751583 N . N Y -0.025901946 47.53140013 0.990602403 9.8 . . GAB4 22 16961936 17008222 N . N N 0.071939875 55.03849048 6.04E-06 79.2 . . GABARAP 17 7240014 7242770 N . N N 0.007634404 50.08971465 0.67018621 25.5 . . GABARAPL1 12 10212458 10223130 N . N N -0.052390454 45.59819413 0.782335275 22.2 . . GABBR2 9 98288109 98709197 N . N Y -1.304341715 4.670949818 0.999790263 4.3 . {Nicotine dependence, susceptibility to}, 188890 (3); {Nicotine dependence, protection against}, 188890 (3) GABPB2 1 151070578 151125542 N . N N 0.415970669 76.65103895 0.002629052 60.9 . . GABRA3 X 152166234 152451358 N . N Y -0.440636427 22.72385252 0.273213946 36.4 . . GABRA4 4 46918900 46994407 N . N Y -0.818514107 11.21143717 0.981416569 11.5 . . GABRA5 15 26866363 26949207 N . N Y -0.467776875 21.53730393 0.951529195 14.6 . . GABRA6 5 161547063 161702593 N . N Y -0.126159463 40.331076 9.42E-08 86.2 DM? . GABRB1 4 46993723 47426444 N . N N -0.640349555 15.66822944 0.977782833 12.1 . . GABRB2 5 161288429 161549044 N . N Y -0.988377353 8.062742374 0.94029923 15.5 . . GABRE X 151953124 151974680 N . N N 0.976957029 92.43502923 0.000183719 70.1 . . GABRG1 4 46035769 46124081 N . N N -0.652484268 15.30937084 0.008474484 55.6 . . GABRG3 15 26971282 27541991 N . N N -0.419886724 23.51681426 0.993679844 8.9 FTV . GABRP 5 170763350 170814047 N . N Y 0.473275854 79.46981536 9.63E-06 78.2 . . GABRQ X 152638183 152657534 N . N Y -0.233114996 33.52433872 0.01008834 54.9 . . GABRR1 6 89177501 89231278 N . N Y -0.232158138 33.59958326 2.12E-07 85.1 . . GABRR2 6 89257208 89315299 N Viable N Y 0.793195884 89.0606008 4.52E-07 83.9 DP . GABRR3 3 97986673 98035304 N . N N . . . . . . GAD2 10 26216307 26304558 N Viable N Y -0.534194499 18.82271228 0.898626708 17.8 DP . GADD45A 1 67685061 67688338 N . N Y -0.163022609 37.81906581 0.109847669 42.6 . . GADD45B 19 2476122 2478259 N . N Y -0.109544183 41.48289634 0.185427442 39.1 DFP . GADD45G 9 89605013 89606555 N . N Y 0.259064403 67.99212826 0.720982248 24 . . GADL1 3 30726200 30894765 N . N N 0.803419309 89.21108989 5.39E-09 89.5 . . GAFA3 4 37866561 37867091 N . N N . . . . . . GAGE1 X 49589496 49608536 N . N N . . 0.438832811 31.7 . . GAGE10 X 49303669 49319844 N . N N 0.555516228 82.64166233 0.001119948 64.3 . . GAGE12B X 49529869 49529985 N . N N . . . . . . GAGE12C X 49532211 49539538 N . N N . . . . . . GAGE12D X 49541767 49549094 N . N N . . . . . . GAGE12E X 49551333 49558649 N . N N . . . . . . GAGE12F X 49560876 49568205 N . N N . . . . . . GAGE12G X 49570434 49577754 N . N N . . . . . . GAGE12H X 49579983 49587301 N . N N . . . . . . GAGE12J X 49322057 49329384 N . N N . . 0.023588906 50.8 . . GAGE13 X 49331616 49338952 N . N N . . . . . . GAGE2A X 49589529 49596827 N . N N . . . . . . GAGE2E X 49341192 49345922 N . N N . . . . . . GAL 11 68683779 68691175 N . N Y 0.330418352 72.31579557 0.000289003 68.8 FP ?Epilepsy, familial temporal lobe, 8, 616461 (3) GAL3ST1 22 30554635 30574587 N . N Y 0.753765456 88.16924235 0.379107293 33.3 . . GAL3ST2 2 241776825 241804208 N . N N 0.805185239 89.25160618 4.42E-05 74.2 . . GAL3ST3 11 66041952 66049180 N . N N -0.463948146 21.72830931 1.25E-06 82.3 DM . GAL3ST4 7 100159244 100168750 N . N N 0.25473034 67.7490305 3.82E-10 91.9 DM . GALC 14 87837820 87993665 Y Viable N Y 0.439587779 77.86652775 6.28E-07 83.3 DM Krabbe disease, 245200 (3) GALE 1 23795599 23800804 N . N N -0.265997742 31.51588818 3.27E-08 87.5 DM Galactose epimerase deficiency, 230350 (3) GALK1 17 75751594 75765711 N . N Y -0.032448102 47.13781328 0.000940521 65 DM Galactokinase deficiency with cataracts, 230200 (3) GALK2 15 49155656 49367869 N . N N -0.317561949 28.41928576 8.74E-06 78.4 . . GALM 2 38665910 38741237 N . N N -0.008982334 48.74110089 8.93E-09 89.1 . . GALNS 16 88813734 88856970 N . N Y 0.369189464 74.35318632 0.00086204 65.3 DM Mucopolysaccharidosis IVA, 253000 (3) GALNT10 5 154190730 154420984 N . N N -0.313734483 28.63923135 0.00044926 67.3 . . GALNT11 7 152025674 152122347 N . N N 0.266060797 68.42623141 0.004047419 59 . . GALNT12 9 98807699 98850081 N . N N -0.369126321 25.91885165 0.002825659 60.6 DM {Colorectal cancer, susceptibility to, 1}, 608812 (3) GALNT13 2 153871913 154453849 N . N N -0.477997281 21.09741275 0.853952804 19.7 . . GALNT14 2 30910467 31155202 N . N N 0.108497929 57.89199514 3.03E-09 90.1 . . GALNT15 3 16174649 16231992 N . N N -0.662556357 14.97366441 5.52E-10 91.6 . . GALNT16 14 69259277 69357033 N . N N -0.175809925 37.02031603 0.016827717 52.5 . . GALNT18 11 11270876 11622005 N Viable N Y -0.687935562 14.2675233 0.047685176 47.3 . . GALNT2 1 230057990 230282124 N . N N -0.511685065 19.76037507 0.881985613 18.5 DM . GALNT3 2 165747591 165794682 N . N Y -0.676755502 14.5858656 2.01E-05 76.2 DM Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) GALNT4 12 89519408 89524806 N . N Y -0.327783769 27.85784569 0.112929757 42.5 . . GALNT5 2 157257598 157314211 N . N N -0.39692684 24.5586618 1.34E-12 95.2 . . GALNT6 12 51351247 51392867 N . N N -0.421497081 23.47629797 1.66E-06 81.7 . . GALNT7 4 173168753 173323967 N . N N -0.14962524 38.77409272 0.000181549 70.1 . . GALNT8 12 4720341 4851927 N . N N 0.891851594 90.9938068 1.87E-10 92.5 . . GALNT9 12 132196372 132329349 N . N N 0.207648094 64.90710193 0.594228593 27.6 DM . GALNTL5 7 151956379 152019934 N Viable N Y 1.232235001 95.31168606 6.05E-13 95.5 DM . GALNTL6 4 171812254 173041559 N . N N -0.718099444 13.46298547 0.001655681 62.7 . . GALP 19 56176020 56185775 N Viable N Y 0.215958347 65.40487353 0.001215115 64 DP . GALR1 18 77250549 77277896 N . N Y -0.102845596 41.94593969 0.000193369 69.9 DM . GALR2 17 76074794 76077541 N . N Y 0.308057642 70.95560572 0.007970937 55.9 . . GALR3 22 37823382 37825495 N . N Y . . 0.023153423 50.9 . . GALT 9 34638133 34651035 N . N Y -0.488371748 20.65173352 0.001190739 64.1 DM Galactosemia, 230400 (3) GAN 16 81314952 81390884 N . N Y -1.317437138 4.595705273 0.036349934 48.8 DM Giant axonal neuropathy-1, 256850 (3) GANAB 11 62624826 62646726 N . N N -0.260913414 31.79371419 0.99994841 3.3 . . GANC 15 42273233 42356935 N . N N 1.002812104 92.79967587 2.38E-21 98.9 . . GAPDHS 19 35533412 35545316 N . N Y 0.144904459 60.59501071 0.135772126 41.3 . . GAPT 5 58491435 58497090 N . N Y 0.641877044 85.40834636 0.001630933 62.7 . . GAPVD1 9 125261794 125367207 N . N N -2.01050931 1.603287608 0.999999872 1.2 . . GAR1 4 109815510 109824740 N . N Y 0.247883787 67.32650344 0.81256498 21.2 . . GAREM 18 32124877 32470484 N . N N -0.582742031 17.31782138 0.827971734 20.7 . . GAREML 2 26173091 26189663 N . N N . . . . . . GARNL3 9 127224265 127393660 N . N N -1.07429771 6.870405742 0.021086841 51.3 . . GAS2 11 22625642 22813055 N . N N -0.119765437 40.78833131 0.026289766 50.3 . . GAS2L1 22 29306582 29312785 N Viable N Y 0.016397017 50.77270359 0.700430404 24.6 . . GAS2L2 17 35744511 35752878 N . N N 1.02724099 93.12380622 0.000457989 67.3 FTV . GAS2L3 12 100573683 100628286 N . N N -0.292988049 29.83735602 0.000258593 69.1 . . GAS6 13 113820549 113864067 N . N Y 0.37493117 74.67152862 0.333438602 34.8 DP . GAS7 17 9910609 10198551 N . N N -0.597090606 16.7679574 0.025529644 50.4 . . GAS8 16 90019629 90044975 N . N N 1.276455552 95.60687619 8.04E-08 86.4 . . GAST 17 41712326 41715969 N . N Y 0.078032613 55.54205012 0.003173784 60.1 . . GATA5 20 62463497 62475970 N Viable N Y . . 0.250742909 37.1 DM . GATAD1 7 92447453 92458836 N . N N 0.078989305 55.61150663 0.507483499 29.7 DM ?Cardiomyopathy, dilated, 2B, 614672 (3) GATAD2B 1 153804725 153922975 N . N N -0.65344145 15.2630665 0.998594716 6.4 DM? Mental retardation, autosomal dominant 18, 615074 (3) GATB 4 151670504 151761023 N . N N . . . . . . GATM 15 45361124 45402327 N Viable N Y -0.537219736 18.72431556 0.866491077 19.2 DM Cerebral creatine deficiency syndrome 3, 612718 (3) GATS 7 100200653 100272218 N . N N -0.145145404 39.04034265 0.000965025 64.9 . . GATSL2 7 74964818 75024798 N . N N . . . . . . GATSL3 22 30285117 30289627 N . N N 0.175722654 62.91601551 0.453126498 31.3 . . GBA2 9 35736866 35749228 N . N Y -0.543313266 18.46964172 4.79E-09 89.6 DM Spastic paraplegia 46, autosomal recessive, 614409 (3) GBAS 7 55951793 56000181 N . N N -0.251145013 32.40145859 4.15E-05 74.4 . . GBP1 1 89052319 89065360 N . N Y 0.109454802 57.9556636 1.81E-12 95 . . GBP2 1 89106132 89150456 N Viable N Y -0.084817347 43.21352087 1.97E-05 76.3 . . GBP3 1 89006666 89022894 N . N N 1.213551575 95.16698501 5.83E-18 98.1 . . GBP4 1 89181148 89198932 N . N N 1.381512598 96.29565318 1.42E-09 90.9 . . GBP5 1 89258950 89272804 N . N Y 0.05214974 53.52781154 7.95E-06 78.6 . . GBP6 1 89364058 89386461 N . N N 0.850504873 90.2066331 2.45E-10 92.3 . . GBP7 1 89131751 89176040 N . N N 0.806441799 89.26318227 5.51E-11 93.3 . . GBX1 7 151148589 151174745 N Viable N Y 0.424281762 77.06777797 0.269607761 36.5 . . GC 4 71741693 71804041 N Viable N Y 0.631799315 85.10158014 5.78E-06 79.3 DP . GCA 2 162318840 162371595 N . N Y 0.143797178 60.51397812 0.000445655 67.4 . . GCAT 22 37807905 37817176 N . N N 0.250903275 67.50593274 7.76E-06 78.7 . . GCC1 7 127580618 127593611 N . N N -0.571560634 17.60722348 6.69E-08 86.6 . . GCC2 2 108448561 108509415 N . N N -1.215543029 5.429183307 0.013465761 53.7 . . GCDH 19 12891026 12914207 N . N Y -0.285636061 30.30618742 0.335283401 34.7 DM Glutaricaciduria, type I, 231670 (3) GCFC2 2 75652000 75710989 N . N N 1.815020927 98.21728309 6.27E-12 94.5 . . GCG 2 162142873 162152404 N . N Y 0.096865517 56.89645193 0.077203462 44.6 . [?Hyperproglucagonemia] (1) GCGR 17 81804132 81814013 Y Viable N Y . . 0.452713871 31.3 DM {Diabetes mellitus, noninsulin-dependent}, 125853 (3) GCH1 14 54842008 54902852 N . N N -0.063568931 44.88047693 0.942485933 15.4 DM Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Hyperphenylalaninemia, BH4-deficient, B, 233910 (3) GCHFR 15 40764020 40767710 N . N N -0.09740902 42.25270591 0.041896885 48 . . GCKR 2 27496842 27523684 N . N Y 0.088859598 56.34658795 3.58E-16 97.5 DM [Fasting plasma glucose level QTL 5], 613463 (3) GCLM 1 93885205 93909456 N . N Y -0.154562494 38.40365804 0.414918212 32.4 DFP {Myocardial infarction, susceptibility to}, 608446 (3) GCN1 12 120127203 120194710 N . N N . . . . . . GCNT1 9 76419850 76507416 N . N Y -0.502420818 20.06714129 0.066576637 45.4 . . GCNT2 6 10492223 10629368 N . N Y -0.706336147 13.73502344 0.019397722 51.8 DM [Blood group, Ii], 110800 (3); Cataract 13 with adult i phenotype, 116700 (3); Adult i phenotype without cataract, 110800 (3) GCNT3 15 59594875 59640239 N . N Y 0.270693188 68.73299763 4.04E-09 89.8 . . GCNT4 5 75025346 75030899 N . N Y -0.691914915 14.19227875 0.021235042 51.3 . . GCNT7 20 56491492 56525925 N . N N . . . . . . GCOM1 15 57591908 57714745 N . N N 0.735083071 87.7351392 3.95E-09 89.8 . . GCSAM 3 112120841 112133305 N . N Y 0.543377487 82.18440702 0.098501307 43.2 . . GCSAML 1 247507058 247577690 N . N N 0.22250501 65.75794409 0.03579586 48.9 . . GCSH 16 81081961 81096403 N . N N -0.012961236 48.47485096 0.019728343 51.8 DM Glycine encephalopathy, 605899 (3) GDA 9 72114595 72257193 N . N N 0.24898988 67.40753603 0.998845433 6.1 . . GDAP1 8 74321130 74488872 N Viable N Y -0.399291813 24.48341726 0.000184529 70.1 DM Charcot-Marie-Tooth disease, type 4A, 214400 (3); Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3); Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3); Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) GDAP1L1 20 44247099 44280917 N . N N -0.019355782 47.95971523 0.353968502 34.1 . . GDAP2 1 117863485 117929630 N . N N -0.674993982 14.6263819 8.51E-05 72.4 . . GDE1 16 19501689 19522145 N . N Y 0.0931893 56.64756613 4.09E-05 74.4 . . GDF10 10 47300386 47313547 N Viable N Y -0.413187838 23.76570006 0.308234425 35.5 . . GDF15 19 18374731 18389176 N Viable N Y -0.298880801 29.53637784 0.000282487 68.8 DFP . GDF2 10 47322490 47326270 N Viable N Y -0.056719065 45.36088441 0.086007141 44 . Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3) GDF5 20 35433347 35454746 N . N N -0.026707188 47.49667188 0.923194899 16.5 DM ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3); Brachydactyly, type C, 113100 (3); Chondrodysplasia, Grebe type, 200700 (3); Du Pan syndrome, 228900 (3); Brachydactyly, type A2, 112600 (3); Symphalangism, proximal, 1B, 615298 (3); Multiple synostoses syndrome 2, 610017 (3); {Osteoarthritis-5}, 612400 (3); Brachydactyly, type A1, C, 615072 (3) GDF5OS 20 35433029 35435450 N . N N . . 0.042362392 48 . . GDF7 2 20666664 20679245 N . N Y . . 0.778067352 22.3 . . GDF9 5 132861181 132866884 N . N Y -0.006111899 49.02471494 1.19E-05 77.6 DM . GDI1 X 154436913 154443467 N . N Y -0.644179392 15.54668056 0.987884009 10.4 DM Mental retardation, X-linked 41, 300849 (3) GDPD1 17 59220467 59275967 N . N N -0.439679063 22.75279273 0.00337917 59.9 . . GDPD2 X 70423031 70433390 N . N N 0.540655179 82.08022226 0.116236324 42.3 . . GDPD3 16 30104810 30113856 N . N N 0.436566952 77.72182671 1.05E-07 86.1 . . GDPD4 11 77216558 77301687 N . N N 0.32976059 72.2926434 9.33E-09 89 . . GDPGP1 15 90233808 90245811 N . N N 0.531387625 81.71557562 8.69E-06 78.4 . . GEM 8 94249253 94262350 N . N Y 0.0200728 51.09683394 6.13E-06 79.2 . . GEMIN4 17 744414 753999 N . N N 1.869047686 98.33883197 1.89E-07 85.2 DP . GEMIN5 5 154887416 154938209 N . N N 0.603544851 84.22758581 3.13E-14 96.4 . . GEMIN6 2 38751534 38785000 N . N N -0.236138921 33.29860508 0.002595146 61 . . GEMIN7 19 45079195 45091524 N . N N 0.435463288 77.66394629 0.347103991 34.3 . . GEMIN8 X 14008279 14029893 N . N N 0.247883787 67.32650344 0.906251195 17.5 . . GEN1 2 17753858 17788941 N . N N 0.108650217 57.89778318 2.86E-10 92.2 DP . GET4 7 876552 896436 N . N N -1.031483997 7.449209932 0.972149419 12.8 . . GFAP 17 44905008 44916937 N . N Y 0.124309052 59.07275569 2.23E-05 75.9 DM Alexander disease, 203450 (3) GFER 16 1984207 1987749 N . N N 0.466432451 79.14568501 1.85E-06 81.5 DM Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) GFI1 1 92474762 92486876 N . N Y -0.097256408 42.28164612 0.029628557 49.7 DM Neutropenia, severe congenital 2, autosomal dominant, 613107 (3); Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) GFM2 5 74721204 74767371 N . N N 1.488487602 96.90918562 1.23E-08 88.7 DM . GFOD1 6 13357830 13487662 N . N N -0.723842698 13.29513226 0.04961907 47 . . GFOD2 16 67674531 67719421 N Viable N Y -0.591501503 16.99369103 0.060537434 45.9 . . GFPT2 5 180300690 180353387 N Viable N Y -1.619527857 2.766684031 6.63E-07 83.2 DP . GFRA2 8 21690403 21812357 N . N Y 0.079140008 55.61729467 0.337127995 34.7 . . GFRA3 5 138252379 138274671 N . N Y -0.186335547 36.37784338 0.029060962 49.8 . . GFRA4 20 3659292 3663399 N . N Y . . 0.00834572 55.7 . . GFRAL 6 55327469 55402493 N . N N 0.454442874 78.52057649 0.00011482 71.4 . . GFY 19 49423749 49428818 N . N Y . . . . . . GGA1 22 37608475 37633564 Y Viable N Y -1.408444368 3.88956416 0.999441827 5.3 . . GGACT 13 100530164 100589528 N . N N . . . . . . GGCT 7 30496621 30504844 N . N N 0.117461409 58.54604387 0.000385991 67.9 . . GGH 8 63015079 63039171 N . N N 0.206691474 64.80870522 0.578462955 28 DFP . GGT1 22 24583750 24629005 N . N Y 0.868230085 90.53655148 0.676974717 25.3 . . GGT2 22 21207973 21227637 N . N N . . 0.80481651 21.4 . [Gamma-glutamyltransferase, familial high serum] (2) GGT5 22 24219654 24245142 N . N Y -0.220827915 34.28836025 1.39E-05 77.2 DP . GGT6 17 4556927 4560818 N . N N 0.613922929 84.57486832 2.46E-06 80.9 . . GGT7 20 34844720 34872860 N . N N -0.274305776 31.04126874 0.998200259 6.8 . . GGTLC1 20 23985050 23988779 N . N N 0.382132046 75.02459918 0.000145547 70.7 . . GGTLC2 22 22644475 22647903 N . N N 0.915827458 91.39896973 0.000421522 67.6 . . GGTLC3 22 18516344 18518161 N . N N . . . . . . GH1 17 63917200 63918838 N . N Y 0.617600446 84.70220524 0.017431562 52.3 DM Growth hormone deficiency, isolated, type IA, 262400 (3); Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3); Kowarski syndrome, 262650 (3) GH2 17 63880215 63881935 N . N N 0.18146271 63.30960236 3.39E-05 74.9 DM . GHDC 17 42188799 42194532 N . N N 0.386914904 75.23875673 2.12E-05 76.1 . . GHITM 10 84139440 84153555 N . N N -0.322346967 28.12409562 0.129493358 41.6 . . GHR 5 42423777 42721878 Y Viable N Y 0.31012201 71.07136656 0.000232177 69.3 DM Laron dwarfism, 262500 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3); Increased responsiveness to growth hormone (3); Growth hormone insensitivity, partial, 604271 (3) GHRH 20 37251082 37261835 N . N Y 0.191535973 63.89419459 0.455312664 31.2 DP ?Isolated growth hormone deficiency due to defect in GHRF (1); Gigantism due to GHRF hypersecretion (1) GHRHR 7 30938669 30993254 N Viable N Y 0.255536257 67.80112288 0.002679459 60.8 DM Growth hormone deficiency, isolated, type IB, 612781 (3) GHRL 3 10285675 10292947 N . N Y 0.534918128 81.86027667 8.37E-05 72.4 DFP {Obesity, susceptibility to}, 601665 (3) GHSR 3 172445133 172448456 N Viable N Y 0.00793724 50.1244429 0.043345347 47.8 DM Growth hormone deficiency, isolated partial, 615925 (3) GID4 17 18039292 18068404 N . N N -0.081445868 43.46240667 0.937456357 15.8 . . GID8 20 62938119 62948475 N . N N -0.330004658 27.72472073 0.961707186 13.8 . . GIF 11 59829268 59845501 N . N Y 0.445983156 78.16171789 0.43420207 31.8 DM Intrinsic factor deficiency, 261000 (3) GIGYF1 7 100679507 100689448 N . N N -2.26573636 1.198124674 0.978704812 12 . . GIMAP1 7 150716557 150724284 N . N N 0.448703989 78.31799502 0.8393214 20.3 . . GIMAP2 7 150685697 150693641 N . N N 0.464666725 79.07044047 0.001228334 63.9 . . GIMAP4 7 150567277 150573955 N . N Y 0.278045399 69.20761706 7.69E-05 72.7 . . GIMAP5 7 150722253 150750033 N . N Y 0.248033216 67.35544365 0.189192166 39 . . GIMAP6 7 150625375 150632648 N Viable N Y 1.552050096 97.24489205 0.09734362 43.3 . . GIMAP7 7 150514830 150521073 N . N N -0.005306604 49.07680732 0.001844893 62.2 . . GIMAP8 7 150450630 150479392 N . N N 0.352422016 73.54864849 6.85E-06 79 DM? . GIN1 5 103086000 103120151 N . N N -0.310058921 28.94020953 0.006677682 56.8 . . GINM1 6 149566294 149591748 N . N N 0.158803293 61.65422238 7.71E-05 72.7 . . GINS2 16 85676198 85690073 N . N N -0.059741353 45.11778665 6.08E-09 89.4 . . GINS3 16 58295080 58406144 N . N N 0.14284054 60.39821728 0.236040219 37.5 . . GIP 17 48958554 48968596 N . N Y 0.079946001 55.69832726 0.162839345 40.1 FP . GIPC1 19 14477760 14496149 N . N Y -0.730388607 13.14464317 0.020370586 51.6 . . GIPC2 1 77979542 78138449 N . N N 0.426194468 77.17775077 3.42E-08 87.5 . . GIPC3 19 3585553 3593541 N Viable N Y 0.108195341 57.87463101 0.054252131 46.5 DM Deafness, autosomal recessive 15, 601869 (3) GIPR 19 45668244 45683724 N . N Y 0.965775925 92.24981189 2.54E-22 99.1 DM? [Plasma glucose, 2-hour, QTL 2] (2) GIT2 12 109929792 109996389 N . N Y -0.976893157 8.29426405 0.970632701 12.9 . . GJA10 6 89894469 89896120 N . N Y 0.0052183 49.89870927 4.55E-13 95.6 . . GJA3 13 20138255 20161049 N . N N . . 0.000279889 68.9 DM Cataract 14, multiple types, 601885 (3) GJA4 1 34792998 34795747 N . N Y 0.284591847 69.63014412 0.239138209 37.4 DFP . GJA8 1 147907956 147909257 N Viable N Y -0.360666394 26.29507438 2.68E-05 75.5 DM Cataract 1, multiple types, 116200 (3) GJA9 1 38874451 38881587 N . N N -0.007068709 48.91474214 3.07E-06 80.5 . . GJB1 X 71215194 71225516 N . N Y 0.23846774 66.7534873 0.659801724 25.8 DM Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3) GJB4 1 34759741 34763724 N Viable N Y 1.910522619 98.41407652 1.96E-06 81.3 DM Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3) GJB6 13 20221971 20232395 N . N Y 0.048171225 53.26734966 0.00018982 70 DM Deafness, autosomal dominant 3B, 612643 (3); Deafness, autosomal recessive 1B, 612645 (3); Deafness, digenic GJB2/GJB6, 220290 (3); Ectodermal dysplasia 2, Clouston type, 129500 (3) GJB7 6 87282978 87329278 N . N N 1.05376226 93.40742027 1.50E-06 81.9 . . GJC2 1 228149852 228159826 N . N Y -0.152648436 38.52520692 0.483282479 30.5 DM Leukodystrophy, hypomyelinating, 2, 608804 (3); Spastic paraplegia 44, autosomal recessive, 613206 (3); Lymphedema, hereditary, IC, 613480 (3) GJC3 7 99923269 99929620 N . N Y 0.312691067 71.2565839 0.005788822 57.4 DM . GJD2 15 34751032 34754965 N . N Y -0.349641992 26.83336227 0.1177216 42.2 DP . GJD3 17 40362931 40363815 N . N Y . . 0.004901368 58.2 . . GJD4 10 35605410 35608935 N Viable N Y 0.140120824 60.21878798 2.78E-05 75.4 . . GJE1 6 142133090 142135151 N . N Y . . . . . . GK2 4 79406352 79408293 N . N N 0.390741825 75.41818603 2.90E-08 87.7 . . GK5 3 142157527 142225607 N . N N -0.542808172 18.4812178 0.519887601 29.5 . . GKAP1 9 83739421 83829516 N . N N -0.218261615 34.41569717 0.12282841 42 . . GKN1 2 68974573 68980974 N Viable N Y -0.077618099 43.83284135 0.000264878 69 . . GKN2 2 68945232 68952970 N Viable N Y 0.044344174 52.90849106 0.00014306 70.8 . . GLA X 101397803 101407925 N . N Y 0.459885344 78.80419054 0.985045991 10.9 DM Fabry disease, 301500 (3); Fabry disease, cardiac variant, 301500 (3) GLB1 3 32996608 33097230 N . N Y -0.181399394 36.65566939 4.86E-08 87 DM GM1-gangliosidosis, type I, 230500 (3); GM1-gangliosidosis, type II, 230600 (3); GM1-gangliosidosis, type III, 230650 (3); Mucopolysaccharidosis type IVB (Morquio), 253010 (3) GLB1L 2 219236606 219245478 N . N N 0.010959166 50.34438849 2.52E-10 92.2 . . GLB1L2 11 134331874 134378341 N . N N 0.406857631 76.20535973 1.45E-16 97.7 . . GLB1L3 11 134274245 134319564 N . N N 0.164846502 62.1404179 1.89E-13 95.9 . . GLCCI1 7 7968794 8094272 N . N N -0.63939225 15.70295769 0.24528208 37.2 DFP {Glucocorticoid therapy, response to}, 614400 (3) GLDN 15 51341629 51408013 N . N Y 0.557724031 82.72269491 1.79E-11 94 . . GLI1 12 57460135 57472262 N . N Y -0.890246442 9.787578862 1.95E-06 81.3 DFP . GLI4 8 143267433 143276931 N . N N -0.201341563 35.40545234 0.001021287 64.6 . . GLIPR1 12 75480680 75503853 N . N Y 0.342703496 73.00457255 1.05E-09 91.1 . . GLIPR1L1 12 75334639 75370560 N . N N 0.288268772 69.80378538 0.003663385 59.4 . . GLIPR1L2 12 75391070 75432688 N . N N 0.34365998 73.06824101 0.003108624 60.2 . . GLIPR2 9 36136536 36163913 N . N N 0.148430386 60.90756497 0.000501677 67 . . GLIS1 1 53506237 53738106 N . N Y 0.346833134 73.23609423 0.099980948 43.1 . . GLIS2 16 4314761 4339597 N . N Y -0.084968981 43.20194478 0.953068391 14.5 DM Nephronophthisis 7, 611498 (3) GLMP 1 156290089 156295689 N . N Y . . . . . . GLO1 6 38675925 38703141 N . N N -0.351556594 26.68287318 0.000220689 69.5 DM? . GLOD4 17 757097 783390 N . N N 0.277088785 69.12079643 8.11E-05 72.5 . . GLOD5 X 48761750 48773648 N . N N 0.881990556 90.74492099 0.046077731 47.5 . . GLP1R 6 39048798 39087743 N Viable N Y 0.234940518 66.52775366 0.064078049 45.6 DP . GLP2R 17 9822206 9892102 N . N Y 0.01926743 51.03895352 1.04E-07 86.1 . . GLRA2 X 14529298 14731812 N . N Y -0.062612024 44.95572148 0.908587632 17.4 . . GLRA3 4 174636914 174829314 N . N Y -0.500506623 20.165538 0.043752559 47.7 . . GLRA4 X 103707224 103728655 N . N N 0.64856997 85.56462349 4.17E-05 74.4 DM? . GLRX 5 95751319 95823005 N . N Y 0.13805751 60.04514673 0.000187399 70 . . GLRX2 1 193096468 193106114 N . N Y 0.390443887 75.38924582 6.51E-05 73.1 . . GLRX5 14 95533503 95544724 N . N N . . 0.626214087 26.7 DM ?Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) GLS2 12 56470944 56488414 N . N N -0.763119335 12.3343173 0.000987122 64.8 . . GLT1D1 12 128853427 128984968 N . N N 0.251709849 67.54644904 9.15E-05 72.1 . . GLT6D1 9 135623656 135639540 N . N N 1.211487933 95.1380448 0.003188288 60.1 . . GLT8D1 3 52694485 52706083 N . N Y -0.41429797 23.70781964 0.003489775 59.7 . . GLTP 12 109850943 109880488 N . N N -0.236138921 33.29860508 0.227088706 37.8 . . GLTPD2 17 4788959 4790390 N . N N 0.382940675 75.05932743 0.025977798 50.4 . . GLTSCR1 19 47608196 47703277 N . N N . . 0.997123314 7.5 DP . GLTSCR2 19 47745522 47757058 N . N N 0.651439248 85.66880824 0.253946324 37 . . GLUD1 10 87050486 87094866 N . N N -0.770777527 12.16646409 0.013935465 53.5 DM Hyperinsulinism-hyperammonemia syndrome, 606762 (3) GLUD2 X 121047588 121050080 N . N N 0.208604733 64.97655843 0.071307892 45 DFP . GLYAT 11 58640426 58731974 N . N N 0.700137096 86.89008508 8.04E-05 72.6 FP . GLYATL1 11 58905398 59043527 N . N N 0.203971741 64.62927592 6.27E-05 73.3 . . GLYATL2 11 58834065 58904215 N . N N 1.298669382 95.78630549 9.10E-11 93 . . GLYATL3 6 49499958 49527047 N . N N . . . . . . GLYCTK 3 52287089 52293476 N . N N -0.06039484 45.06569428 1.36E-06 82.1 DM D-glyceric aciduria, 220120 (3) GLYR1 16 4803203 4847342 N . N N -1.338185338 4.416275974 0.999877719 3.9 . . GM2A 5 151212150 151270440 N . N Y 0.378306375 74.85095792 0.111186455 42.5 DM GM2-gangliosidosis, AB variant, 272750 (3) GMCL1 2 69829642 69881396 N . N Y -0.2153906 34.56618626 9.62E-06 78.2 . . GMDS 6 1623806 2245692 N . N N -0.530674014 18.96162528 0.997690129 7.2 DM? . GMEB1 1 28668732 28719353 N . N N -0.80542189 11.43717081 0.960593932 13.9 . . GMEB2 20 63587602 63627041 N . N N -0.770622677 12.17804017 0.990659131 9.8 . . GMFB 14 54474484 54489196 N . N Y 0.017051112 50.83058401 0.323144112 35.1 . . GMFG 19 39328353 39342372 N . N N 0.178442775 63.08386873 1.91E-05 76.3 . . GMIP 19 19629476 19643667 N . N N -0.073336293 44.17433582 7.29E-05 72.8 DFP . GML 8 142834247 142916506 N . N N 0.761932533 88.3428836 0.439134842 31.7 FTV . GMNC 3 190852877 190892429 N Viable N Y . . . . . . GMPPA 2 219498867 219506988 N . N N 0.133574517 59.72680442 2.35E-06 81 . Alacrima, achalasia, and mental retardation syndrome, 615510 (3) GMPPB 3 49716844 49723951 N . N N -0.608422187 16.49591943 8.25E-05 72.5 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3) GMPR 6 16238580 16295549 N . N N 0.058544531 53.99664294 0.002525686 61.1 . . GMPR2 14 24232422 24239242 N . N N 0.224567453 65.92000926 0.000987613 64.8 . . GMPS 3 155870536 155944026 N . N N -0.750026799 12.61793135 0.993904306 8.9 . . GNA11 19 3094410 3124004 N . N Y -0.399291813 24.48341726 0.966183014 13.4 DM Hypocalciuric hypercalcemia, type II, 145981 (3); Hypocalcemia, autosomal dominant 2, 615361 (3) GNA12 7 2728112 2844324 N . N Y 0.059501305 54.07188748 0.908269982 17.4 . . GNA14 9 77423079 77648307 N . N N 0.28091539 69.36968224 6.82E-10 91.4 . . GNA15 19 3136193 3163769 N . N Y 0.00315321 49.71927997 0.306963812 35.6 . . GNAI1 7 80133955 80219402 N Viable N Y -0.484697758 20.7732824 0.917528244 16.8 . . GNAI3 1 109548611 109618321 N . N Y -0.31116943 28.88232911 0.038811278 48.5 DM Auriculocondylar syndrome 1, 602483 (3) GNAT1 3 50191612 50196516 N . N Y -0.418929621 23.54575447 2.51E-06 80.8 DM Night blindness, congenital stationary, autosomal dominant 3, 610444 (3); ?Night blindness, congenital stationary, type 1G, 616389 (3) GNAT2 1 109603267 109619929 N . N N -0.02031261 47.87868264 0.008158652 55.8 DM Achromatopsia-4, 613856 (3) GNAT3 7 80458671 80512020 N . N Y 0.107238638 57.76465822 0.000297548 68.7 . . GNAZ 22 23070361 23125037 N . N Y -0.658228302 15.08363721 0.886293664 18.4 . . GNB2 7 100673531 100679174 N . N N -0.725757668 13.23725184 0.989239435 10.1 . . GNB2L1 5 181236909 181248096 N . N N -0.230550154 33.7153441 0.994631521 8.5 . . GNB4 3 179396089 179451590 N . N N 0.098778904 57.07588123 0.629775083 26.7 DM Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3) GNG10 9 111661335 111670246 N . N N 0.075162561 55.29316432 0.00031015 68.5 . . GNG11 7 93921699 93928610 N . N N 0.288120873 69.75748104 0.163792462 40 . . GNG12 1 67701466 67833467 N . N N 0.295624092 70.22631244 0.553351818 28.6 . . GNG2 14 51826195 51979342 N . N N 0.166157019 62.22723853 0.523770491 29.3 . . GNG3 11 62707658 62709201 N . N Y 0.000131289 49.44145396 0.52722723 29.2 . . GNG4 1 235547687 235650754 N . N N 0.159610371 61.7121028 0.158455672 40.2 . . GNG5 1 84498325 84506565 N . N N 0.15865385 61.61949413 0.524989345 29.3 . . GNG7 19 2511219 2702709 N . N Y 0.052653149 53.55096371 0.47555714 30.7 . . GNG8 19 46634076 46634685 N . N Y 0.319090009 71.70805117 0.147000774 40.7 . . GNGT1 7 93591573 93911265 N . N Y 0.145560638 60.65289113 0.276892737 36.3 . . GNGT2 17 49202791 49210574 N . N N 0.25810805 67.9284598 0.173047626 39.6 . . GNL1 6 30541377 30557174 N . N N -0.386046286 25.13167795 0.999930615 3.5 FTV . GNL2 1 37566816 37595935 N . N N -0.731042844 13.13306708 0.45303247 31.3 . . GNL3L X 54530211 54561071 N . N N 0.036992354 52.33547491 0.991954332 9.4 . . GNLY 2 85685175 85698854 N . N N 1.00682807 92.85176825 0.001549957 62.9 . . GNMT 6 42960758 42963880 N . N Y 0.083772833 56.01666956 0.667933556 25.6 DM Glycine N-methyltransferase deficiency, 606664 (3) GNPAT 1 231241207 231277973 N . N Y -0.229287694 33.77322452 0.291272733 35.9 DM Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) GNPDA2 4 44682200 44726595 N Viable N Y -0.161108498 37.92903861 0.012646181 54 . . GNPTAB 12 101745497 101830938 N . N N -0.648217925 15.43091972 4.23E-06 79.9 DM Mucolipidosis III alpha/beta, 252600 (3); Mucolipidosis II alpha/beta, 252500 (3) GNPTG 16 1351923 1364113 N . N Y -0.710596154 13.60768652 6.00E-08 86.7 DM . GNRH1 8 25419260 25424654 N . N N 0.608040007 84.39543902 0.098691606 43.2 DM ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3) GNRH2 20 3043622 3045747 N . N N 0.427960039 77.28193552 0.000228749 69.4 . . GNRHR 4 67739328 67754360 N . N N 0.101649038 57.35370724 0.013968045 53.5 DM Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3) GNS 12 64713445 64759447 N . N N -0.993965971 7.95855762 0.082905296 44.2 DM Mucopolysaccharidosis type IIID, 252940 (3) GOLGA1 9 124878357 124948492 N . N N -0.295858114 29.68686693 0.006107394 57.1 . . GOLGA2 9 128255829 128275995 N . N N 0.030901164 51.86664351 0.994925569 8.4 . . GOLGA3 12 132768909 132828858 N Viable N Y -0.367161705 26.02303641 0.991564256 9.6 DM? . GOLGA4 3 37243177 37366751 N . N N -0.589434358 17.0862997 2.26E-09 90.4 . . GOLGA5 14 92794231 92839963 N . N N 0.002499372 49.67297563 0.363133885 33.8 DP . GOLGA6A 15 74069857 74082550 N . N N . . 0.224411354 37.9 . . GOLGA6B 15 72654738 72666394 N . N N . . 0.302338864 35.7 . . GOLGA6C 15 75258599 75270199 N . N N . . 0.04005143 48.3 . . GOLGA6D 15 75258558 75295530 N . N N . . 0.318585416 35.2 . . GOLGA6L1 15 23128268 23136822 N . N N . . . . . . GOLGA6L10 15 82339998 82349475 N . N N . . 0.36895894 33.6 . . GOLGA6L2 15 23439498 23447234 N . N N . . 8.97E-06 78.3 . . GOLGA6L22 15 22458903 22469230 N . N N . . . . . . GOLGA6L4 15 84235773 84245368 N . N N . . 0.389324704 33 . . GOLGA6L6 15 20531856 20541800 N . N N . . 0.086864302 44 FTV . GOLGA6L9 15 82430018 82439153 N . N N . . . . . . GOLGA7 8 41490396 41510980 N . N N 0.122094661 58.87017422 0.691723361 24.8 . . GOLGA7B 10 97850239 97871580 N . N N -0.193034849 35.95531632 0.010488375 54.7 . . GOLGA8A 15 34379068 34437466 N . N N . . 0.693302517 24.8 . . GOLGA8B 15 34525207 34588503 N . N N . . 0.280132445 36.2 . . GOLGA8F 15 28378621 28392018 N . N N . . 0.559396883 28.4 . . GOLGA8G 15 28519611 28533014 N . N N . . 0.447085283 31.5 . . GOLGA8H 15 30604126 30614561 N . N N . . 3.20E-05 75.1 . . GOLGA8J 15 30083053 30093499 N . N N . . 0.35505685 34 . . GOLGA8K 15 32392782 32403292 N . N N . . 0.33764279 34.6 . . GOLGA8M 15 28701954 28738384 N . N N . . 0.920983506 16.7 . . GOLGA8N 15 32593456 32607310 N . N N . . . . . . GOLGA8O 15 32445106 32455634 N . N N . . . . . . GOLGA8Q 15 30552078 30562501 N . N N . . 0.480898387 30.5 . . GOLGA8R 15 30403740 30414162 N . N N . . 0.175047824 39.5 . . GOLGA8S 15 23354748 23367231 N . N N . . 0.004662616 58.5 . . GOLGA8T 15 30135149 30145567 N . N N . . 0.761434671 22.8 . . GOLGB1 3 121663199 121749767 N . N N -0.271922988 31.15702958 4.23E-06 79.8 DP . GOLIM4 3 168008677 168095975 N . N N -0.527497788 19.10053829 5.54E-11 93.3 . . GOLM1 9 86026146 86100173 N . N N 0.926344755 91.6304914 0.002612536 60.9 . . GOLPH3 5 32124704 32174350 N . N N -0.130139339 40.0821902 0.014365491 53.4 . . GOLPH3L 1 150646225 150697144 N . N N 0.401772227 75.92174567 0.022106746 51.2 . . GOLT1A 1 204198160 204214092 N . N N 0.23846774 66.7534873 0.038757883 48.5 . . GOLT1B 12 21501781 21518408 N . N N 0.13805751 60.04514673 0.79838372 21.7 . . GON4L 1 155749662 155859400 N . N N -1.446203587 3.704346819 0.999998892 1.7 DM . GOPC 6 117560269 117602542 N . N Y -0.321389901 28.22828037 0.02198408 51.2 . . GORAB 1 170532129 170553446 N . N N -0.196556891 35.70643051 6.83E-06 79 DM Geroderma osteodysplasticum, 231070 (3) GORASP1 3 39096659 39108363 N . N N 0.279958701 69.3233779 0.69837775 24.7 . . GORASP2 2 170928464 170967129 N . N N -0.388917343 25.00434103 0.89106444 18.2 . . GOSR1 17 30477362 30527592 N . N N -0.417169759 23.60942293 0.450937721 31.4 . . GOT1 10 99396870 99430624 N . N N -0.292334822 29.87208427 0.129221467 41.6 DM Aspartate aminotransferase, serum level of, QTL1, 614419 (3) GOT1L1 8 37934281 37940129 N . N N 0.447896377 78.26590265 2.12E-10 92.4 . . GOT2 16 58707131 58734357 N . N N 0.271498993 68.77351392 0.89649116 17.9 . . GP1BA 17 4932297 4935030 N . N Y -0.368018762 25.9535799 0.013157716 53.8 DM Bernard-Soulier syndrome, type A1 (recessive), 231200 (3); {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3); Bernard-Soulier syndrome, type A2 (dominant), 153670 (3); von Willebrand disease, platelet-type, 177820 (3) GP1BB 22 19722945 19724771 N Viable N Y . . 0.101120792 43 DM Bernard-Soulier syndrome, type B, 231200 (3); Giant platelet disorder, isolated, 231200 (3) GP2 16 20309572 20327808 N . N Y 0.058695894 54.00821902 1.13E-12 95.2 DFP . GP5 3 194394821 194398354 N . N Y -0.01265806 48.49800313 4.01E-06 80 . . GP6 19 55013705 55038264 N . N Y 0.745457818 87.97823696 1.20E-14 96.7 DM Bleeding disorder, platelet-type, 11, 614201 (3) GP9 3 129060767 129062406 N Viable N Y 0.557428105 82.71111883 0.570607601 28.2 DM Bernard-Soulier syndrome, type C, 231200 (3) GPA33 1 167052836 167166479 N . N N 0.545437394 82.24807548 1.50E-06 81.9 . . GPAA1 8 144082590 144086216 N . N N -0.05002151 45.76604735 2.89E-07 84.6 . . GPALPP1 13 44989529 45037669 N . N N 0.328653775 72.25212711 0.000396088 67.7 . . GPAM 10 112149864 112215377 N . N Y -0.048107958 45.96284077 0.000580579 66.6 DM . GPANK1 6 31661229 31666283 N Viable N Y 0.383088549 75.0824796 0.000931901 65 DP . GPAT2 2 96021946 96039451 N . N N 0.572730387 83.19152631 0.0016123 62.8 . . GPATCH1 19 33080880 33130542 N . N N -0.086428999 43.0803959 3.44E-05 74.9 . . GPATCH11 2 37084451 37099244 N . N N 0.313499354 71.29131215 1.27E-05 77.4 . . GPATCH2 1 217426992 217631082 N . N N 0.067004291 54.66226775 9.66E-05 72 . . GPATCH2L 14 76151916 76254342 N . N N -0.726559776 13.22567575 0.539068808 28.9 . . GPATCH3 1 26890488 26900466 N . N N -0.029426144 47.35197083 6.05E-07 83.4 . . GPATCH4 1 156594487 156601496 N . N N 0.443113628 78.02859293 1.69E-07 85.4 FTV . GPATCH8 17 44395284 44503430 N . N N -0.759682553 12.39798576 0.99949549 5.2 DM . GPBAR1 2 218259496 218263859 N Viable N Y 0.386914904 75.23875673 1.86E-06 81.4 DM? . GPBP1 5 57173948 57264679 N . N N -0.175004808 37.08977253 0.975851112 12.3 . . GPBP1L1 1 45627304 45688113 N . N N -0.172134192 37.24026162 0.43532405 31.8 . . GPC1 2 240435671 240468078 N . N N 0.873972423 90.65810036 0.109569938 42.6 DM . GPC4 X 133300103 133415490 N . N Y 0.065090757 54.56387104 0.948476975 14.9 DM? . GPC5 13 91398675 92873682 N . N Y 0.100038089 57.21479424 1.99E-05 76.2 DM . GPC6 13 93226842 94407401 N . N N -0.321237518 28.23406841 0.338854613 34.6 DM Omodysplasia 1, 258315 (3) GPCPD1 20 5544404 5611026 N . N N -0.194643158 35.86849569 0.125571599 41.8 . . GPD1 12 50103819 50111319 N . N N 0.400007863 75.84071309 0.147319093 40.7 DM Hypertriglyceridemia, transient infantile, 614480 (3) GPD1L 3 32105689 32168713 N . N N -0.526844603 19.11790241 0.009537828 55.1 DM Brugada syndrome 2, 611777 (3) GPER1 7 1082208 1093815 N . N Y -0.490132566 20.5938531 0.725420979 23.9 . . GPHA2 11 64934471 64935888 N . N N 0.268480327 68.6056607 2.07E-05 76.1 . . GPHB5 14 63312835 63318879 N . N Y . . . . . . GPIHBP1 8 143213193 143217170 N . N Y 0.640921144 85.36783006 0.023780963 50.7 DM Hyperlipoproteinemia, type 1D, 615947 (3) GPKOW X 49113389 49123801 N . N N 0.382132046 75.02459918 0.979573127 11.8 . . GPLD1 6 24424565 24495205 N Viable N Y 0.325436142 72.05533368 5.64E-09 89.5 . . GPM6A 4 175632934 176002664 N . N Y -0.464103204 21.6993691 0.952961852 14.5 DFP . GPM6B X 13771031 13938638 N . N Y -0.221132832 34.27099612 0.494053307 30.1 . . GPN1 2 27628247 27651508 N . N N 0.135487969 59.87729351 0.004903592 58.2 . . GPN2 1 26876133 26890297 N . N N -0.200384589 35.4691208 0.036923454 48.7 . . GPN3 12 110452484 110469268 N . N N -0.316758145 28.47137813 0.000100472 71.8 . . GPNMB 7 23235967 23275108 N Viable N Y 0.729493997 87.56728599 1.12E-12 95.2 . . GPR1 2 206175316 206218047 N Viable N Y 0.23207049 66.37147653 1.84E-05 76.5 FTV . GPR101 X 137030148 137031674 N . N N 0.921562896 91.52630665 0.403512442 32.7 . Pituitary adenoma, growth hormone-secreting 2, 300943 (3) GPR108 19 6729914 6737603 N . N N 0.932085829 91.76361637 1.69E-08 88.3 . . GPR119 X 130384440 130385447 N . N N -0.039146033 46.66319384 0.097255905 43.4 . . GPR12 13 26755200 26760785 N . N Y -0.45372795 22.13347225 0.852043162 19.8 DM . GPR132 14 105049389 105065445 N . N Y -0.310058921 28.94020953 0.03471241 49 . . GPR135 14 59429022 59465342 N . N N 0.724559727 87.51519361 0.003932041 59.1 . . GPR137 11 64270062 64289500 N . N N -0.203103007 35.27811541 0.48439827 30.4 . . GPR137B 1 236142505 236221865 N . N N -0.048410911 45.9396886 0.00025303 69.1 . . GPR137C 14 52553148 52637713 N . N N -0.481825845 20.92377149 0.695444477 24.8 . . GPR139 16 20031485 20073917 N Viable N Y -0.186335547 36.37784338 0.144423629 40.8 DM? . GPR141 7 37683796 37833788 N . N N -0.010895966 48.63112809 1.53E-05 77 . . GPR142 17 74367407 74372622 N . N N 1.361717971 96.19725647 5.60E-05 73.6 . . GPR143 X 9725346 9786297 N . N Y 0.368890551 74.33003415 0.672222024 25.5 DM Ocular albinism, type I, Nettleship-Falls type, 300500 (3); Nystagmus 6, congenital, X-linked, 300814 (3) GPR146 7 1044576 1059261 N . N N -0.020161029 47.89604677 0.002794126 60.6 . . GPR148 2 130729070 130730336 N . N N 0.862490667 90.4150026 0.004809517 58.3 . . GPR149 3 154337672 154429715 N . N Y -0.879200336 9.955432077 2.65E-05 75.5 . . GPR15 3 98531899 98533150 N . N Y -0.275414705 30.96023615 0.003264999 60 . . GPR150 5 95620078 95622142 N . N N . . 0.002247162 61.5 . . GPR151 5 146513103 146516190 N . N Y 1.220904521 95.24222955 1.06E-05 77.9 . . GPR152 11 67451301 67452729 N Viable N Y 0.067155682 54.6680558 1.01E-05 78 DM? . GPR153 1 6247346 6260975 N . N N 0.078334396 55.57677838 0.000377954 68 . . GPR155 2 174431571 174487094 N . N N -0.898988059 9.608149563 8.13E-11 93.1 . . GPR156 3 120164645 120285094 N . N N 0.657333237 85.83087342 3.68E-07 84.2 . . GPR157 1 9100305 9129170 N . N N 0.383088549 75.0824796 2.63E-05 75.5 . . GPR158 10 25175062 25602226 N Viable N Y -0.523384016 19.28575563 0.678504825 25.2 . . GPR160 3 170037929 170085403 N . N N 0.675714658 86.31128089 0.00375672 59.3 . . GPR162 12 6821545 6829972 N . N N -0.574430068 17.52040285 0.017134388 52.4 . . GPR17 2 127645864 127652639 N Viable N Y 0.77531884 88.67859003 1.07E-05 77.9 . . GPR171 3 151197832 151203201 N . N N -0.461231059 21.83249407 0.001675121 62.6 . . GPR173 X 53049091 53080615 N . N N -0.290574674 29.99363315 0.678239842 25.2 . . GPR174 X 79170972 79172229 N . N Y 0.225374457 65.97210164 0.888101966 18.3 DM? . GPR176 15 39799023 39920892 N . N N -0.524930204 19.22208717 0.413262635 32.4 . . GPR179 17 38325530 38343847 N . N N 3.00533003 99.54274469 2.68E-20 98.8 DM Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) GPR18 13 99254714 99261744 N . N N -0.29042075 30.03993749 9.92E-07 82.5 . . GPR180 13 94601903 94634645 N . N Y -0.511838334 19.74301094 6.59E-11 93.2 . . GPR182 12 56994446 56998441 N Viable N Y -0.46953715 21.46205939 0.000859696 65.3 . . GPR183 13 99294530 99307405 N . N Y 0.0931893 56.64756613 0.025545632 50.4 . . GPR19 12 12660891 12696207 N . N Y -0.283874745 30.4277363 0.348589814 34.2 . . GPR20 8 141356500 141367267 N Viable N Y 0.83998017 90.00405163 0.3150686 35.3 . . GPR21 9 123034527 123035696 N . N Y -0.535305023 18.7706199 0.024651114 50.6 . . GPR22 7 107470018 107475659 N Viable N Y -0.363690885 26.19088962 0.427181285 32.1 . . GPR25 1 200873038 200874123 N . N N 0.127834418 59.29270128 0.005635451 57.5 . . GPR26 10 123666355 123694607 N . N Y -0.296163317 29.65792672 0.627337377 26.7 . . GPR27 3 71754050 71756496 N . N N . . 0.598851196 27.5 . . GPR3 1 27392644 27395814 N . N Y -0.17883254 36.80037043 0.020935797 51.4 . . GPR31 6 167156271 167158329 N . N N 0.802462863 89.1995138 0.000351018 68.2 . . GPR32 19 50770464 50771732 N . N N -0.075552304 44.00069457 7.91E-05 72.6 . . GPR33 14 31482964 31487945 N Viable N Y . . . . FP . GPR34 X 41688973 41697277 N . N Y -0.025096816 47.5834925 0.457038661 31.2 . . GPR35 2 240605431 240631259 N . N N 0.932891782 91.78676854 0.003635581 59.5 . . GPR37 7 124745997 124765627 N . N Y -0.319323968 28.32088904 0.799390711 21.7 DM? . GPR37L1 1 202122858 202133592 N . N Y -0.655202523 15.19939804 2.88E-07 84.6 . . GPR39 2 132416574 132646559 N . N Y -0.000371054 49.40093766 1.55E-12 95.1 . . GPR42 19 35370929 35372962 N . N N . . 0.659177796 25.8 . . GPR45 2 105241743 105243049 N . N N -0.752898517 12.51953464 0.864764501 19.3 . . GPR50 X 151176653 151181465 N Viable N Y 0.686235642 86.56595474 0.445210115 31.6 . . GPR52 1 174448111 174449198 N . N Y 0.047214459 53.18052903 0.065458592 45.5 . . GPR55 2 230907318 230961066 N . N Y -0.071876736 44.2958847 0.000388569 67.8 DFP . GPR6 6 109978256 109980718 N . N Y -0.146906657 38.94194594 0.746040035 23.2 . . GPR61 1 109539872 109548406 N . N N -0.920845623 9.20298663 0.801488898 21.6 . . GPR62 3 51955314 51957504 N . N N . . 0.229621631 37.7 . . GPR63 6 96794126 96837463 N Viable N Y -0.259451686 31.91526307 0.64635908 26.1 . . GPR65 14 88005124 88014811 N Viable N Y -0.013766433 48.44591075 0.505440551 29.8 . . GPR68 14 91232532 91253925 N . N Y -0.599160107 16.73322915 0.000219037 69.5 DP . GPR75 2 53852913 53859989 N . N N -0.375672502 25.64681368 0.003194802 60.1 DM? . GPR75-ASB3 2 53670293 53860160 N . N N 0.012721269 50.46593737 0.247642059 37.2 . . GPR78 4 8558725 8619761 N . N N 0.240681152 66.90976443 1.28E-05 77.4 . . GPR82 X 41724155 41730135 N . N Y -0.001630854 49.29675291 0.001018511 64.6 . . GPR83 11 94377311 94401419 N . N Y 0.262233352 68.20049777 0.032467713 49.3 . . GPR84 12 54362445 54364487 N Viable N Y 1.113937017 94.1019853 2.72E-07 84.7 . . GPR85 7 113078331 113087778 N . N Y -0.606663309 16.55379985 0.8104471 21.3 . . GPR87 3 151294086 151316952 N . N Y 0.324977012 72.03796955 0.290536849 36 . . GPR88 1 100538137 100542018 N . N N . . 0.754055177 23 . . GPR89A 1 145607990 145670648 N . N N . . 0.847988631 20 . . GPR89B 1 147928393 147993521 N . N N . . 0.791699862 21.9 . . GPRASP1 X 102651366 102659083 N . N Y 0.916277267 91.4221219 0.501518109 29.9 . . GPRASP2 X 102712176 102717733 N . N N 0.752808741 88.15187822 0.498014765 30 . . GPRC5A 12 12890782 12917937 N . N Y 0.599873048 84.11761301 8.03E-06 78.6 . . GPRC5B 16 19856691 19886167 Y Viable N Y -0.006111899 49.02471494 0.527206906 29.2 . . GPRC5C 17 74424851 74451653 N . N Y 0.242594876 67.05446547 0.005513607 57.7 . . GPRC5D 12 12940775 12952147 N Viable N Y -0.214433638 34.65879493 2.97E-05 75.2 . . GPRC6A 6 116792085 116829037 N . N Y 1.430533819 96.56190311 4.64E-14 96.4 DP . GPRIN1 5 176595802 176610133 N . N N -0.214938193 34.59512647 0.787287342 22.1 . . GPRIN2 10 46549044 46555530 N . N N 2.932091438 99.48486427 0.000296291 68.7 . . GPRIN3 4 89236386 89308010 N . N N 1.650080493 97.73108757 0.000266284 69 DM? . GPS2 17 7311324 7315564 N . N N -0.587827164 17.15575621 0.590137502 27.7 . . GPSM1 9 136327476 136359605 N Viable N Y -0.50977145 19.81246744 0.002149527 61.6 . . GPSM3 6 32190766 32195523 N Viable N Y 0.343512144 73.05666493 0.609591628 27.2 . . GPT 8 144502973 144507174 N . N N 0.043689954 52.85639868 2.84E-15 97 DM . GPT2 16 46884378 46931297 N . N N -0.72751688 13.20252359 0.00368564 59.4 . ?Mental retardation, autosomal recessive 49, 616281 (3) GPX1 3 49357176 49358600 N Viable N Y 0.097822207 56.98327256 0.006931651 56.6 DFP Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1) GPX2 14 64939152 64942905 N . N N -0.031643 47.17832957 0.002317034 61.4 . . GPX5 6 28525925 28534952 N . N Y 0.612819541 84.5575042 0.008884677 55.4 . . GPX6 6 28503296 28528215 N . N N 0.991820467 92.66655091 3.14E-05 75.1 . . GPX7 1 52602372 52609051 N . N Y 0.330418352 72.31579557 0.000179755 70.1 . . GPX8 5 55160118 55167071 N . N N 0.056480057 53.81721364 0.019066229 51.9 . . GRAMD1A 19 34994784 35026471 N . N N -0.531175395 18.9500492 0.568380699 28.3 . . GRAMD1B 11 123454398 123627774 N . N N -0.182507799 36.58042484 0.984850768 10.9 . . GRAMD1C 3 113828182 113947174 N . N N -0.038842712 46.68634601 8.13E-10 91.3 . . GRAMD2 15 72159807 72197785 N . N N 0.662620317 85.99872663 2.96E-08 87.6 . . GRAMD3 5 126360132 126496494 N . N N -0.160955729 37.95219077 1.54E-07 85.6 . . GRAMD4 22 46576012 46679790 N . N N -0.852203082 10.52266018 0.999791413 4.3 . . GRAP 17 19020673 19047637 N . N Y . . 0.217063635 38.1 . . GRAP2 22 39901082 39973721 N . N Y -0.102845596 41.94593969 0.101871595 43 . . GRAPL 17 19127469 19159176 N . N N . . . . . . GRASP 12 52006940 52015889 N . N Y -0.071071979 44.35376512 0.930936502 16.1 . . GRB14 2 164492812 164621848 N . N Y 0.003304686 49.75979626 0.096601217 43.4 . . GRB7 17 39737927 39747291 N Viable N Y -0.110045452 41.45395613 0.000820006 65.4 . . GREB1 2 11482341 11642788 N Viable N Y 0.093768091 56.66493025 0.025485538 50.4 . . GREB1L 18 21242242 21525417 N . N N . . . . FTV . GREM2 1 240489573 240612149 N . N N -0.049519725 45.82392777 0.081742843 44.3 . . GRHL1 2 9951693 10002277 N . N Y -0.671165896 14.71899057 0.983150779 11.2 . . GRHPR 9 37422666 37436990 N . N N -0.063416885 44.9036291 0.00013344 71 DM Hyperoxaluria, primary, type II, 260000 (3) GRIA1 5 153489615 153813869 N . N Y -1.278004027 4.856167159 0.999436341 5.3 DM? . GRIA3 X 123184153 123490915 N . N Y -0.865449062 10.26798634 0.998653778 6.3 DM Mental retardation, X-linked 94, 300699 (3) GRIA4 11 105609994 105982092 N . N Y -1.530428038 3.194999132 0.98874921 10.2 . . GRID1 10 85599555 86366493 N . N Y -1.939259633 1.800081033 0.950796126 14.7 DP . GRID2IP 7 6497462 6551436 N . N Y . . 0.314734428 35.3 . . GRIFIN 7 2474844 2476894 N . N N . . . . . . GRIK1 21 29536933 29940033 N . N Y -0.843451541 10.71945361 3.21E-05 75 DP . GRIK2 6 101398788 102070083 N . N Y -1.171991482 5.880650576 0.994567954 8.6 DM Mental retardation, autosomal recessive, 6, 611092 (3) GRIK3 1 36795527 37034129 N . N Y -1.725415058 2.361521097 0.99998017 2.8 DM . GRIK4 11 120511759 120988904 N . N Y -0.856689587 10.45320368 0.630846158 26.6 DFP . GRIK5 19 41998321 42069498 N . N Y -0.903623108 9.509752851 0.917779688 16.8 . . GRIN2A 16 9753404 10182754 N . N Y -2.3464153 1.082363836 0.998044808 6.9 DM Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3) GRIN2C 17 74842023 74861504 N . N Y 0.418189625 76.72049546 0.003937648 59.1 FTV . GRIN2D 19 48394875 48444931 N . N Y -1.163679704 5.961683163 0.998648757 6.3 . . GRIN3A 9 101569353 101738580 N . N Y -0.167049899 37.59333218 0.123333065 41.9 DM? . GRIN3B 19 1000419 1009732 N . N Y . . 0.001113712 64.3 . . GRINA 8 143990058 143993415 N . N Y -0.124397678 40.48156509 0.757342473 22.9 . . GRIP2 3 14489111 14542081 N . N N . . . . . . GRIPAP1 X 48973720 49002264 N . N N -0.427389804 23.21583608 0.996933311 7.6 . . GRK1 13 113667155 113737735 N . N Y . . 0.009154212 55.3 DM Oguchi disease-2, 613411 (3) GRK4 4 2963608 3040747 N . N Y 0.927454043 91.66521966 5.69E-07 83.5 DP . GRK5 10 119207589 119459742 N Viable N Y -0.185226508 36.44151184 0.984107718 11.1 DFP . GRK6 5 177403204 177442901 N . N Y -0.486305293 20.71540198 0.248841091 37.1 . . GRK7 3 141778148 141818490 N . N N 0.976150073 92.41187706 1.19E-07 85.9 . . GRM1 6 146027646 146437598 N . N Y -1.410078509 3.883776119 0.989964592 9.9 DM Spinocerebellar ataxia, autosomal recessive 13, 614831 (3) GRM2 3 51707070 51718613 N . N Y -0.165286254 37.70330497 0.983083426 11.2 . . GRM3 7 86643914 86864884 N Viable N Y -1.278960202 4.844591075 0.984710457 10.9 DP . GRM4 6 34018645 34155622 N . N Y -1.867063133 1.996874457 0.979350085 11.9 . . GRM5 11 88504576 89065945 N . N Y -1.775221198 2.263124385 0.985984068 10.8 DM . GRM6 5 178978327 178996206 N Viable N Y 1.122871013 94.22353418 2.42E-09 90.3 DM Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3) GRM7 3 6770001 7741533 N . N Y -1.045237847 7.269780633 0.999169069 5.7 DM . GRM8 7 126438598 127253294 N . N Y -0.972925806 8.32320426 0.004038623 59 DM . GRN 17 44345086 44353102 N . N Y -0.39148464 24.90015628 0.060278429 46 DM Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3); Aphasia, primary progressive, 607485 (3); Ceroid lipofuscinosis, neuronal, 11, 614706 (3) GRP 18 59220168 59230774 N . N N 0.448557666 78.28905481 2.14E-06 81.2 . . GRPEL1 4 7058906 7068197 N . N N -0.01663693 48.16808474 0.896268186 17.9 . . GRPEL2 5 149345430 149354583 N . N N -0.01663693 48.16808474 0.005754672 57.4 . . GRPR X 16123556 16153021 N . N Y 0.000282778 49.45881808 0.138137202 41.2 DM . GRSF1 4 70815782 70839945 N . N N -0.380457228 25.42686809 7.98E-07 82.9 . . GRTP1 13 113324164 113364148 N Viable N Y 0.455399499 78.56688082 4.79E-06 79.6 . . GRWD1 19 48445773 48457022 N . N N 0.236853976 66.63772646 0.337778594 34.6 . . GRXCR1 4 42893267 43030658 N . N N -0.382371374 25.31110725 1.27E-07 85.9 DM Deafness, autosomal recessive 25, 613285 (3) GRXCR2 5 145859733 145872968 N . N Y 0.071637002 55.02112635 1.75E-05 76.6 . ?Deafness, autosomal recessive 101, 615837 (3) GS1-259H13.11 7 99558668 99607810 N . N N . . . . . . GS1-393G12.13 8 144353228 144355609 N . N N . . . . . . GSAP 7 77310751 77416400 N . N N -0.176615867 36.95664757 3.60E-16 97.5 . . GSC2 22 19148576 19150283 N . N Y . . 0.037186207 48.6 . . GSDMA 17 39962973 39977766 N . N N 0.528517954 81.59981478 7.61E-13 95.4 DP . GSDMB 17 39904595 39919854 N . N N 0.320344023 71.78908375 1.73E-07 85.4 DP . GSDMC 8 129748196 129786888 N . N N 0.976150073 92.41187706 9.35E-12 94.3 . . GSDMD 8 143553207 143563062 N . N Y 0.72838545 87.5557099 4.81E-07 83.8 . . GSE1 16 85611409 85676204 N . N Y -0.542498177 18.49858193 . . . . GSG1 12 13083560 13103683 N . N N 0.642023041 85.42571048 0.001349334 63.6 . . GSG1L 16 27787535 28063509 N . N N -0.198623704 35.57909359 0.541032305 28.9 . . GSG1L2 17 9802386 9822071 N . N N . . . . . . GSG2 17 3723903 3726699 N . N N 0.430324044 77.44400069 0.051131763 46.9 . . GSK3A 19 42230186 42242625 N . N Y -0.395617806 24.63390635 0.997436756 7.3 . . GSKIP 14 96363452 96387288 N . N N -0.066439705 44.63737917 0.718816129 24.1 . . GSPT1 16 11868128 11916082 N . N N 0.035884366 52.28917057 0.951655492 14.6 DP . GSPT2 X 51743431 51746232 N . N N -0.499704018 20.18869017 0.90474887 17.6 DM . GSR 8 30678061 30727926 N . N N 0.31747395 71.6154425 0.012481214 54 DM Hemolytic anemia due to glutathione reductase deficiency (1) GSTA1 6 52791664 52803910 N . N N -0.399291813 24.48341726 0.059010542 46.1 FP . GSTA2 6 52750089 52763569 N . N N 0.434654036 77.61764195 4.24E-08 87.2 FP . GSTA3 6 52847910 52909685 N . N Y 0.576259031 83.29571106 0.086863157 44 FP . GSTA4 6 52977948 52995378 N Viable N Y 0.081859407 55.83724026 0.021302254 51.3 . . GSTA5 6 52831655 52870329 N . N N 0.509685942 80.85894542 3.98E-09 89.8 . . GSTCD 4 105708778 105847728 N Viable N Y -0.859706529 10.38374718 1.33E-07 85.8 . . GSTK1 7 143244093 143270854 N . N Y -0.203255573 35.26075129 1.10E-09 91.1 DFP . GSTM1 1 109687814 109709039 N . N Y . . 0.34571372 34.4 DFP . GSTM2 1 109668022 109709551 N . N N -0.008177066 48.7989813 0.008902004 55.4 . . GSTM3 1 109733932 109741038 N . N N 0.165349748 62.17514615 0.000572589 66.6 DFP . GSTM4 1 109656081 109674836 N Viable N Y 0.705728228 87.03478613 0.000917345 65 FP . GSTM5 1 109712255 109775428 N . N N 0.65320457 85.72668866 0.000214167 69.6 . . GSTO1 10 104235356 104267459 N . N N 0.477760474 79.6550327 0.015037843 53.1 DP . GSTO2 10 104268873 104304945 N . N Y 0.478716768 79.67818487 1.67E-07 85.5 DP . GSTP1 11 67583595 67586660 N . N Y 0.151300234 61.07541819 0.115024063 42.4 DM? . GSTT2B 22 23957414 23961186 N . N N . . 0.520153497 29.4 FP . GSTZ1 14 77320884 77331597 N . N Y 0.683218038 86.51386236 1.07E-05 77.9 FP Tyrosinemia, type Ib (1) GTDC1 2 143938068 144332568 N . N N 0.911337664 91.30057302 2.41E-10 92.3 . . GTF2A1L 2 48617798 48733148 N . N N -0.312777691 28.73184002 5.65E-07 83.6 . . GTF2A2 15 59638062 59657541 N . N N 0.038603643 52.45123575 0.386341515 33.1 . . GTF2E1 3 120742637 120783069 N . N N 0.355945931 73.73965388 0.902579886 17.7 DP . GTF2E2 8 30578318 30658251 N . N N -0.341181678 27.18643283 0.008668552 55.5 . . GTF2F1 19 6379569 6393981 N . N N -0.582889864 17.31203334 0.028735271 49.9 . . GTF2F2 13 45120515 45284909 N . N N -0.01759377 48.06389998 0.025230232 50.5 . . GTF2H1 11 18322295 18367044 N . N N -0.477997281 21.09741275 0.995912256 8 DFP . GTF2H2 5 71032670 71067689 N . N N . . 0.724561789 23.9 . . GTF2H2C 5 69560208 69594723 N . N N . . 0.891905532 18.1 . . GTF2H3 12 123633739 123662606 N . N N -0.271739892 31.18018174 1.59E-05 76.9 . . GTF2H4 6 30908184 30914106 N . N N -0.393549347 24.76703131 0.258034887 36.8 . . GTF2IRD2 7 74796144 74851551 N . N N . . . . DM . GTF2IRD2B 7 75092573 75149817 N . N N . . . . . . GTF3A 13 27424544 27435823 N . N N 0.107238638 57.76465822 . . . . GTF3C2 2 27325849 27357034 N . N N -1.217971526 5.417607223 0.999786436 4.4 . . GTF3C3 2 196763032 196799725 N . N N -1.099822064 6.581003646 5.36E-06 79.4 . . GTF3C4 9 132670035 132694955 N . N N -0.648656154 15.41355559 0.014976256 53.2 . . GTF3C6 6 110958560 110967890 N . N N -0.185531789 36.42414771 0.01171949 54.3 . . GTPBP1 22 38705723 38738299 N . N Y -0.803507355 11.4776871 0.996188562 7.9 . . GTPBP10 7 90335223 90391455 N . N N 0.407510974 76.22851189 0.130731485 41.5 . . GTPBP3 19 17334920 17342735 N . N N -0.1964054 35.71221856 0.044752092 47.6 . Combined oxidative phosphorylation deficiency 23, 616198 (3) GTPBP4 10 988019 1019936 N . N N 0.123503895 59.02066331 0.999865567 4 FTV . GTPBP6 X 304529 318819 N . N N . . . . . . GTPBP8 3 112990918 113015060 N . N N 0.087599756 56.28870753 2.88E-06 80.6 . . GTSE1 22 46296741 46330810 N . N N 1.247559531 95.41008277 6.90E-06 79 . . GTSF1 12 54455950 54473602 N . N Y 0.056480057 53.81721364 0.513379498 29.6 . . GTSF1L 20 43726164 43726998 N . N N 0.732874214 87.64253053 0.0573625 46.3 . . GUCA1A 6 42155406 42180056 N . N Y 0.272306077 68.81981826 0.009918328 54.9 DM Cone dystrophy-3, 602093 (3); Cone-rod dystrophy 14, 602093 (3) GUCA1B 6 42184401 42194916 N . N Y -0.076661182 43.91387394 0.001995062 61.9 DM Retinitis pigmentosa 48, 613827 (3) GUCA1C 3 108907792 108953895 N . N N 0.369846866 74.37633848 0.000632586 66.3 . . GUCA2A 1 42162691 42164718 N . N Y 0.654972172 85.79035712 0.006072258 57.2 . . GUCA2B 1 42153421 42155824 N . N Y 0.147473793 60.82653238 0.707935696 24.4 . . GUCD1 22 24540423 24555935 N . N N -0.440636427 22.72385252 0.016687865 52.6 . . GUCY1A2 11 106674012 107018524 N . N N -0.307188276 29.02703016 0.377257493 33.4 . . GUCY1A3 4 155666711 155732349 N . N Y -0.558467104 17.97187012 1.41E-06 82.1 . Moyamoya 6 with achalasia, 615750 (3) GUCY2C 12 14612632 14696585 N . N Y -0.713979515 13.56717023 1.78E-18 98.3 DM Diarrhea 6, 614616 (3); Meconium ileus, 614665 (3) GUCY2D 17 8002594 8020339 N . N Y -1.372555661 4.126873879 0.000772457 65.6 DM Leber congenital amaurosis 1, 204000 (3); Cone-rod dystrophy 6, 601777(3) GUCY2F X 109372906 109482072 N . N Y 1.573116317 97.33750072 1.52E-05 77 . . GUF1 4 44678427 44700926 N . N N 1.152563454 94.5303004 2.37E-11 93.8 . . GUK1 1 228139962 228148984 N . N N 0.055674233 53.76512126 0.00010002 71.9 . . GULP1 2 188291669 188595931 N . N N -0.257690928 32.05996411 0.67755775 25.3 . . GVQW1 9 32566789 32568621 N . N N . . . . . . GXYLT1 12 42081845 42144879 N . N N 0.535064702 81.88342884 0.987483161 10.5 . . GXYLT2 3 72888073 72998138 N . N N 0.080096755 55.71569138 1.76E-06 81.6 . . GYG2 X 2828788 2882818 N . N N 0.718012692 87.37049256 1.71E-05 76.7 DM? . GYLTL1B 11 45921621 45929096 N . N N 0.361839242 74.0059038 8.27E-12 94.3 FTV . GYPA 4 144109303 144140751 N . N N 0.255386906 67.77218267 0.015312982 53 DM [Blood group, MN] (3); {Malaria, resistance to}, 611162 (3) GYPB 4 143996104 144019345 N . N N 1.004917158 92.81704 0.442245535 31.7 FP [Blood group, Ss] (3); {Malaria, resistance to}, 611162 (3) GYPC 2 126655933 126696675 N . N N 0.612819541 84.5575042 0.013869769 53.6 DM {Malaria, resistance to}, 611162 (3); [Blood group, Gerbich], 616089 (3) GYPE 4 143870867 143905563 N . N N 0.457017001 78.64212537 0.001639097 62.7 DP . GYS2 12 21536189 21604847 N . N Y -0.623127192 16.07918041 1.22E-14 96.6 DM Glycogen storage disease 0, liver, 240600 (3) GZF1 20 23362182 23373063 N . N N -0.65887892 15.06048504 0.007885723 56 . . GZMA 5 55102648 55110252 N . N Y 0.65320457 85.72668866 3.24E-07 84.4 . . GZMB 14 24630954 24634267 N . N Y 0.032208434 52.02870869 1.79E-06 81.5 DFP . GZMH 14 24606480 24609699 N . N N 0.578171457 83.38831973 0.000213178 69.6 . . GZMK 5 55024253 55034570 N Viable N Y 0.282678709 69.47965503 0.000569041 66.6 . . GZMM 19 544034 549924 N . N N 1.071637256 93.65051803 0.001210033 64 . . H1F0 22 37805093 37807436 N . N Y -0.24459911 32.77768131 0.154802582 40.4 . . H1FNT 12 48328980 48330279 N . N Y 0.258256388 67.94003589 0.005066233 58 . . H1FOO 3 129543214 129551467 N Viable N Y 0.301362114 70.58517104 0.398598146 32.8 . . H1FX 3 129314771 129316277 N Viable N Y . . 0.496856075 30 . . H2AFB1 X 154884972 154885558 N . N N . . . . . . H2AFB2 X 155380787 155381134 N . N N . . . . . . H2AFB3 X 155459415 155460005 N . N N . . . . . . H2AFJ 12 14774383 14778002 N . N N -0.042973552 46.37957979 0.765927442 22.7 . . H2AFV 7 44826791 44848083 N . N N 0.159610371 61.7121028 0.41211435 32.5 . . H2AFX 11 119093854 119095467 N . N Y -0.149930626 38.75094056 0.6204105 26.9 . . H2AFY 5 135333900 135399914 N . N Y -0.620712187 16.16600104 0.79508957 21.8 . . H2AFY2 10 70052796 70112280 N . N N -0.164783496 37.74382127 0.97564111 12.3 . . H2BFM X 104039949 104042454 N . N N . . 0.186492117 39.1 . . H2BFS 21 43565189 43565648 N . N N . . . . . . H2BFWT X 104011147 104013687 N . N N 1.461855466 96.77606066 0.000863658 65.3 DM . H3F3C 12 31791185 31792241 N . N N 0.626870269 84.96845517 0.297369302 35.8 . . H6PD 1 9234775 9271337 N . N Y 1.514215072 97.0307345 0.000111404 71.5 DM Cortisone reductase deficiency 1, 604931 (3) HAAO 2 42767089 42792593 N . N N 0.767667839 88.51073682 7.80E-06 78.7 . . HABP2 10 113550837 113589602 N . N Y 0.809314096 89.3094866 1.17E-14 96.7 DFP {?Thyroid cancer, nonmedullary, 5}, 616535 (3); {Venous thromboembolism, susceptibility to}, 188050 (3) HABP4 9 96450201 96491336 N . N N 0.078183267 55.57099033 0.004932505 58.2 . . HACD1 10 17589032 17617377 N . N N . . . . . . HACD2 3 123490820 123585185 N . N N . . . . . . HACD3 15 65530418 65578352 N . N N . . . . . . HACD4 9 20999515 21031636 N . N N . . . . . . HACL1 3 15560704 15601852 N Viable N Y -0.046345684 46.11332986 4.18E-10 91.9 . . HADH 4 107989714 108035175 N . N Y 0.231113855 66.29623198 0.00061369 66.4 DM . HADHB 2 26243170 26290468 N . N N -0.86257743 10.33744284 1.05E-07 86.1 DM Trifunctional protein deficiency, 609015 (3) HAGH 16 1795620 1827194 N . N N -0.074595468 44.09909128 0.000143398 70.8 . [Glyoxalase II deficiency], 614033 (1) HAGHL 16 726936 735525 N . N N . . 0.00014893 70.7 . . HAL 12 95972662 95996365 N . N N 0.477257157 79.63188053 5.91E-17 97.8 DM [Histidinemia], 235800 (3) HAMP 19 35280716 35285143 N . N Y 0.130554386 59.44897841 0.042505134 47.9 DM Hemochromatosis, type 2B, 613313 (3) HAO1 20 7882981 7940474 N . N N 0.233027146 66.41199282 0.000672389 66.1 . . HAO2 1 119368779 119394130 N . N N -0.197513786 35.67170226 4.48E-08 87.1 . . HAPLN2 1 156619294 156625725 N . N Y -0.077618099 43.83284135 1.05E-05 77.9 . . HAPLN3 15 88877288 88895626 N . N N 0.883237032 90.79122533 3.92E-06 80 FTV . HAPLN4 19 19255641 19262796 N . N N -0.30079494 29.40904092 0.032684785 49.3 . . HARBI1 11 46602861 46617909 N . N N 0.117611782 58.55761996 0.005701341 57.5 . . HARS 5 140673173 140692024 N . N N -0.097104392 42.28743416 0.000736051 65.8 DM Usher syndrome type 3B, 614504 (3) HARS2 5 140691426 140699291 N . N N -0.431064706 23.12901545 8.13E-05 72.5 DM ?Perrault syndrome 2, 614926 (3) HAS1 19 51713112 51723994 N Viable N Y 0.830712876 89.8072582 6.04E-11 93.2 DFP . HAS3 16 69105564 69118719 N . N Y -0.291225399 29.94154078 0.269387112 36.5 . . HAUS1 18 46104332 46128333 N . N N 0.054717474 53.7014528 0.000296743 68.7 . . HAUS2 15 42548810 42569994 N . N N 0.29385898 70.12212768 0.001400432 63.3 . . HAUS4 14 22946228 22957161 N . N N 0.109152052 57.94408752 0.03680988 48.7 . . HAUS5 19 35612744 35625349 N . N N 1.069064982 93.61000174 0.000826137 65.4 . . HAUS6 9 19053143 19103119 N . N N 0.853700044 90.26451352 6.61E-10 91.4 . . HAUS7 X 153447666 153495516 N . N N 0.788266285 88.93905192 0.95945396 14 . . HAUS8 19 17049729 17075625 N . N N 0.199338946 64.3514499 0.000726405 65.8 . . HAVCR1 5 157029413 157059119 N . N Y 0.826886131 89.70886149 0.003054336 60.3 DFP {Atopy, resistance to}, 147050 (3) HAVCR2 5 157085832 157142869 N . N Y 0.609140858 84.45331944 0.111384119 42.5 . . HAX1 1 154272511 154275875 N . N Y 0.107238638 57.76465822 1.11E-05 77.8 DM Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) HBA1 16 176680 177522 N . N N . . 0.511601563 29.6 DM Thalassemias, alpha-, 604131 (3); Methemoglobinemias, alpha- (3); Erythremias, alpha- (3); Heinz body anemias, alpha-, 140700 (3); Hemoglobin H disease, nondeletional, 613978 (3) HBA2 16 172847 173710 N . N Y . . 0.448693557 31.4 DM Thalassemia, alpha-, 604131 (3); Heinz body anemia, 140700 (3); Erythrocytosis (3); Hypochromic microcytic anemia (3); Hemoglobin H disease, nondeletional, 613978 (3) HBD 11 5232678 5235370 N . N N 0.285399426 69.6822365 0.000155108 70.6 DM Thalassemia, delta- (3); Thalassemia due to Hb Lepore (3) HBE1 11 5268345 5505617 N . N N -0.094538075 42.4726515 0.010814424 54.6 DM . HBG1 11 5248083 5249892 N . N N . . 0.02977947 49.6 DM Fetal hemoglobin quantitative trait locus 1, 141749 (3) HBG2 11 5248274 5645789 N . N N -0.013918082 48.39381837 0.24130351 37.3 DM Fetal hemoglobin quantitative trait locus 1, 141749 (3); Cyanosis, transient neonatal, 613977 (3) HBM 16 153892 166768 N . N N 0.556472142 82.66481449 0.006846745 56.7 DM . HBP1 7 107168961 107202529 N . N N -0.341984971 27.1690687 0.770302412 22.6 . . HBQ1 16 180453 181181 N . N N . . 0.005828393 57.4 . . HBS1L 6 134960378 135103056 N . N Y 0.575601056 83.28413498 0.924522221 16.4 DP . HCAR1 12 122726076 122730843 N . N Y -0.327935902 27.84048157 0.14099939 41 DM? . HCAR2 12 122701293 122703343 N . N Y 0.288418427 69.82114951 0.020109273 51.7 . . HCAR3 12 122714756 122716892 N . N N 1.66094097 97.77160387 6.93E-06 79 . . HCCS X 11111301 11123078 N . N N 0.50490493 80.62742374 0.950550391 14.7 DM Linear skin defects with multiple congenital anomalies 1, 309801 (3) HCFC1 X 153947553 153971807 N . N N -1.258080084 5.081900793 0.999995934 2.2 DM Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) HCFC1R1 16 3022620 3024286 N . N N 0.77693964 88.71331828 0.000463237 67.2 . . HCFC2 12 104064457 104106524 N . N N -0.470494176 21.42154309 0.994468276 8.6 . . HCG27 6 31197760 31203968 N . N N . . . . . . HCK 20 32052188 32101856 N . N Y 0.410380843 76.3674249 . . FP . HCLS1 3 121631399 121660927 N . N Y 1.544693273 97.2101638 5.09E-05 73.8 DFP . HCN1 5 45259247 45696151 N . N Y -1.10173548 6.534699311 0.953138503 14.5 DM? Epileptic encephalopathy, early infantile, 24, 615871 (3) HCN3 1 155277583 155289848 N . N Y 0.132920659 59.63419575 0.015093383 53.1 . . HCRT 17 42184060 42185452 N Viable N Y . . 0.502440434 29.9 DM ?Narcolepsy 1, 161400 (3) HCRTR1 1 31617686 31632518 N . N Y 0.122395494 58.93963072 0.261800018 36.7 DP . HCRTR2 6 55106460 55282620 N . N Y 0.142990968 60.43294553 0.063644036 45.6 DM . HCST 19 35902480 35904377 N . N Y 0.236554885 66.60299821 0.011933598 54.2 . . HDAC10 22 50245183 50251405 N Viable N Y -0.377286168 25.61208543 3.28E-12 94.8 . . HDAC11 3 13479724 13506424 N . N N -0.412383648 23.80042832 0.044780208 47.6 . . HDAC5 17 44076746 44123702 N . N Y -1.368870346 4.155814088 0.999808248 4.3 . . HDAC6 X 48801377 48824982 N . N Y 0.271650036 68.78509 0.999920798 3.6 DM? ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3) HDAC9 7 18086949 19002416 N . N Y -0.851098137 10.53423627 0.998375125 6.6 DM? . HDC 15 50241947 50266026 N . N Y -0.750831944 12.57741506 0.514822964 29.6 DM {Gilles de la Tourette syndrome, susceptibility to}, 137580 (3) HDDC2 6 125219962 125302078 N . N N 0.353884195 73.67019737 0.001273362 63.7 . . HDDC3 15 90929964 90932569 N Viable N Y 0.418544532 76.73785958 0.071830628 45 . . HDGF 1 156742107 156766925 N . N Y -0.122636306 40.5799618 0.269699274 36.5 . . HDGFL1 6 22569493 22571666 N . N N . . 0.313343421 35.4 . . HDGFRP2 19 4472287 4502211 N . N Y -0.288506791 30.17306245 0.89285412 18.1 . . HDGFRP3 15 83112738 83208018 N . N N 0.183076334 63.39063495 0.939816244 15.6 . . HDHD1 X 7048920 7148190 N . N N 0.148430386 60.90756497 0.259847002 36.7 . . HDHD3 9 113373419 113376999 N . N N 0.35116309 73.45025178 0.005551021 57.6 . . HDLBP 2 241227264 241317061 N . N N -1.461657023 3.571221856 0.999998383 1.9 DM? . HDX X 84317874 84502479 N . N Y 0.135487969 59.87729351 0.517074459 29.5 DM . HEATR1 1 236549005 236604504 N . N N 1.263701825 95.52584361 0.999999993 0.8 . . HEATR3 16 50065941 50106387 N . N N 0.026770398 51.55987729 0.000127665 71.2 DP . HEATR4 14 73478484 73558947 N . N N 0.754238147 88.18081843 6.23E-17 97.8 . . HEATR5A 14 31291791 31420582 N . N N . . . . . . HEATR5B 2 36968383 37084342 N . N N -2.742347867 0.769809573 8.10E-10 91.3 . . HEATR6 17 60043194 60078931 N . N N -0.619159379 16.20072929 4.94E-10 91.8 . . HEATR9 17 35854946 35868891 N . N N . . . . . . HEBP1 12 12974864 13000273 N . N N 0.257299872 67.86479134 8.07E-05 72.5 . . HEBP2 6 138403531 138422197 N . N N 0.680350018 86.42704173 0.000947406 64.9 . . HECA 6 139135112 139180802 N . N N -1.084967057 6.71412861 0.347342389 34.3 . . HECTD2 10 91409280 91514829 N Viable N Y -0.289463756 30.10939399 0.99441649 8.7 . . HECTD3 1 45002540 45011329 N Viable N Y -0.964608267 8.47369335 0.01704278 52.5 . . HECTD4 12 112160188 112382439 N . N N . . 1 0.2 . . HECW1 7 43112599 43566001 N . N N -2.664524996 0.816113909 0.999999894 1.1 . . HECW2 2 196194370 196593692 N . N Y -1.405186821 3.901140244 0.999995852 2.2 . . HELB 12 66302545 66347645 N . N N 0.721349648 87.47467732 2.02E-13 95.8 FTV . HELQ 4 83407343 83455856 N . N N 0.115349237 58.37240262 4.80E-11 93.4 DM? . HELZ 17 67070438 67245989 N . N N -1.392919556 3.976384789 1 0.4 . . HELZ2 20 63558086 63574239 N . N N 3.985443847 99.76847832 1.26E-09 91 . . HEMGN 9 97926791 97944856 N . N N -0.197513786 35.67170226 3.19E-07 84.4 . . HEMK1 3 50569152 50596168 N . N N 0.03507878 52.23129015 8.23E-05 72.5 . . HENMT1 1 108648290 108661526 N . N N -0.10747793 41.66232564 1.42E-06 82 . . HEPACAM 11 124919193 124936412 N . N Y 0.245163355 67.1818024 0.630644861 26.6 DM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3); Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3) HEPACAM2 7 93188586 93226524 N . N N -0.08305528 43.36400996 8.71E-09 89.1 . . HEPH X 66162549 66268867 N . N Y -0.023685392 47.70504138 0.009589268 55.1 . . HEPHL1 11 94021361 94113751 N . N N 1.154978029 94.54766453 7.16E-28 99.6 . . HEPN1 11 124919244 124920677 N . N N 0.145560638 60.65289113 0.026229492 50.3 . . HERC1 15 63608618 63833942 N . N N -6.402280028 0.040516293 1 0.3 . . HERC3 4 88521048 88708542 N . N Y -0.929002374 9.064073624 0.719742123 24.1 . . HERC4 10 67921899 68075348 N . N Y -1.018237878 7.657579441 0.992707096 9.2 . . HERC5 4 88457117 88506163 N . N N -0.743181062 12.78578457 5.21E-05 73.7 . . HERC6 4 88378739 88443111 N Viable N Y 1.164854921 94.69236557 3.19E-09 90.1 . . HERPUD1 16 56932048 56944863 N . N Y -0.434892888 22.97273832 0.821042866 21 . . HERPUD2 7 35632659 35695571 N . N N -0.041864765 46.45482433 0.906200798 17.5 . . HES2 1 6412418 6424670 N . N N . . 0.067046655 45.3 . . HES3 1 6244192 6245578 N . N Y . . 0.268868568 36.5 . . HES4 1 998962 1000172 N . N N . . 0.000147943 70.7 . . HES5 1 2528745 2530245 N . N Y . . 0.532717162 29.1 . . HES6 2 238238267 238240662 N . N N . . 0.008861564 55.4 FP . HEXA 15 72340919 72376476 N . N Y 0.208755511 64.98813451 5.05E-07 83.7 DM Tay-Sachs disease, 272800 (3); GM2-gangliosidosis, several forms, 272800 (3); [Hex A pseudodeficiency], 272800 (3) HEXB 5 74640023 74722647 N . N Y -0.104607368 41.83596689 1.49E-05 77.1 DM Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) HEXDC 17 82418318 82442645 N . N N 1.598340338 97.49377785 1.59E-06 81.8 . . HEXIM2 17 45160700 45170040 N . N N -0.508164568 19.87034786 0.368236513 33.7 . . HEY1 8 79764010 79767863 N . N Y -0.090710311 42.74468947 0.91610473 17 DM . HEYL 1 39624153 39639945 N Viable N Y 0.523736129 81.40302136 6.81E-07 83.2 . . HFE 6 26087281 26098343 N . N Y 0.549114755 82.41014065 8.50E-07 82.8 DM Hemochromatosis, 235200 (3); {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria variegata, susceptibility to}, 176200 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3); {Alzheimer disease, susceptibility to}, 104300 (3); [Transferrin serum level QTL2], 614193 (3) HFE2 1 146017468 146021918 N Viable N Y -0.205016781 35.17393066 0.012330397 54.1 DM . HFM1 1 91260766 91404869 N . N N -1.377073005 4.086357585 1.45E-23 99.2 . Premature ovarian failure 9, 615724 (3) HGD 3 120628173 120682571 N . N N -0.468580168 21.49678764 6.42E-05 73.2 DM Alkaptonuria, 203500 (3) HGFAC 4 3441887 3449495 N . N Y 1.020529703 93.03119755 5.21E-07 83.7 . . HGH1 8 144137769 144140843 N . N N . . . . . . HGSNAT 8 43140455 43202855 N . N N 0.264147024 68.34519882 1.44E-06 82 DM Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3); Retinitis pigmentosa 73, 616544 (3) HHATL 3 42692663 42702827 N . N N 0.823209461 89.61046478 1.49E-05 77.1 . . HHIPL1 14 99645110 99680569 N Viable N Y -0.891634218 9.764426694 0.00214437 61.6 . . HHIPL2 1 222522258 222548103 N . N N 0.696764379 86.83799271 1.14E-17 98.1 FTV . HHLA1 8 132061486 132111159 N . N N . . . . . . HHLA2 3 108296490 108378285 N . N N 0.906555705 91.21375239 8.09E-05 72.5 . . HHLA3 1 70354805 70385339 N . N N 0.14651721 60.7454998 0.00618097 57.1 . . HIAT1 1 100038097 100083377 N . N N -0.719211967 13.43404526 0.983243231 11.2 . . HIATL1 9 94374551 94461042 N . N N -0.051129725 45.70237889 0.023950186 50.7 . . HIATL2 9 96898066 97013580 N . N N . . 0.663791002 25.7 . . HIBADH 7 27525442 27662995 N Viable N Y -0.240770687 32.9976269 0.250720099 37.1 . . HIBCH 2 190189735 190344193 N . N N -0.039951086 46.61688951 4.18E-08 87.2 DM 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) HIC2 22 21417404 21451463 N . N N -0.498441623 20.26393471 0.947187316 15 . . HID1 17 74950743 74973166 N . N N 0.32608497 72.09584997 0.46550532 31 DM? . HIF1AN 10 100529072 100559998 N . N Y -0.086078072 43.11512415 0.867690855 19.2 DP . HIF3A 19 46297046 46343433 N . N Y 0.597307564 84.0192163 0.21811305 38.1 . . HIGD1A 3 42784298 42804531 N . N N 0.267523946 68.51884008 0.450480882 31.4 . . HIGD1B 17 44846353 44850480 N . N N 0.163436574 62.02465706 0.002345584 61.3 . . HIGD1C 12 50953922 50970506 N . N N 0.37161271 74.48052324 2.42E-05 75.7 . . HIGD2A 5 176388747 176389771 N . N N -0.172439875 37.20553337 0.238671224 37.4 DM? . HIGD2B 15 72675783 72686149 N . N N . . 0.094380787 43.5 . . HILPDA 7 128455849 128458418 N . N N 0.356606194 73.78595821 0.422104597 32.2 . . HINT1 5 131159027 131171735 N . N Y 0.039560397 52.53226833 0.084264497 44.2 DM Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3) HINT2 9 35812960 35815354 N . N N 0.169983117 62.51085258 0.000235168 69.3 . . HINT3 6 125956781 125980244 N . N N 0.115548149 58.40713087 0.096712748 43.4 . . HIP1R 12 122834453 122862960 N Viable N Y -1.294647487 4.728830237 1.44E-06 82 . . HIPK1 1 113929192 113977869 N . N Y -1.342537681 4.381547722 0.999942915 3.4 . . HIPK3 11 33256672 33357023 N . N Y -0.741127124 12.84366499 0.893187377 18 . . HIPK4 19 40379271 40390187 N . N N 0.34491897 73.14348556 0.003924876 59.2 . . HIRIP3 16 29992321 29996436 N Viable N Y -0.00691722 48.92053018 0.019002782 52 . . HIST1H1A 6 26017085 26017732 N . N Y 0.032359762 52.04607281 0.003530799 59.7 . . HIST1H1B 6 27866849 27867529 N . N N -0.119613321 40.80569543 0.509138756 29.7 . . HIST1H1C 6 26055787 26056428 N . N Y 0.868383761 90.54812757 . . . . HIST1H1D 6 26234268 26234933 N . N Y 0.312035841 71.21027956 . . . . HIST1H1E 6 26156391 26157050 N . N Y -0.686979096 14.30225155 . . . . HIST1H1T 6 26107419 26108136 N . N Y 1.035222159 93.19905076 . . . . HIST1H2AA 6 25726132 25726527 N . N N -0.590699388 17.02263124 0.000860979 65.3 . . HIST1H2AB 6 26033176 26033568 N . N N -0.325218356 28.00833478 0.005319443 57.8 . . HIST1H2AC 6 26124145 26139116 N . N N -0.450054414 22.26080917 0.599175549 27.5 . . HIST1H2AD 6 26198851 26199243 N . N N -0.498746657 20.24078254 4.00E-05 74.5 . . HIST1H2AE 6 26216975 26217367 N . N N -0.351556594 26.68287318 0.624123654 26.8 DM? . HIST1H2AG 6 27133042 27135291 N . N N -0.416212455 23.64993923 0.000610464 66.4 . . HIST1H2AH 6 27147129 27147515 N . N N 0.229200645 66.1746831 6.30E-05 73.3 . . HIST1H2AI 6 27808199 27808701 N . N N -0.313083888 28.69711177 0.581587114 27.9 . . HIST1H2AJ 6 27814354 27814740 N . N N -0.555098546 18.06447879 0.191197681 38.9 . . HIST1H2AK 6 27837947 27838339 N . N N 0.166306355 62.25039069 0.068428502 45.2 . . HIST1H2AL 6 27865355 27865747 N . N N 0.043387416 52.82745847 0.062486916 45.7 . . HIST1H2AM 6 27892757 27893149 N . N N -0.297120516 29.6000463 0.000856482 65.3 . . HIST1H2BA 6 25726909 25727292 N . N N 0.000282778 49.45881808 0.132823726 41.4 . . HIST1H2BB 6 26043227 26123904 N . N N -0.078575026 43.76338485 0.130327871 41.6 . . HIST1H2BC 6 26114873 26123926 N . N N -0.510079547 19.80089136 0.002878012 60.5 . . HIST1H2BD 6 26158146 26171349 N . N N -0.365605444 26.09828095 0.000277979 68.9 . . HIST1H2BE 6 26183795 26184180 N . N N 0.035884366 52.28917057 0.000307872 68.6 . . HIST1H2BF 6 26199559 26199939 N . N N -0.394660481 24.6686346 0.00030002 68.7 . . HIST1H2BG 6 26216066 26216692 N . N N -0.160151469 38.02743532 2.94E-06 80.6 . . HIST1H2BH 6 26251651 26252031 N . N N -0.402163571 24.28662384 0.00029573 68.7 . . HIST1H2BI 6 26272976 26273356 N . N N -0.123593291 40.51629334 0.138012142 41.2 . . HIST1H2BJ 6 27125897 27132750 N . N N -0.402163571 24.28662384 0.478842114 30.6 . . HIST1H2BK 6 27146418 27146798 N . N N -0.037232312 46.79053076 0.490754148 30.2 . . HIST1H2BL 6 27807444 27807931 N . N N -0.274611335 31.00075245 0.002867554 60.6 . . HIST1H2BM 6 27815044 27815424 N . N N -0.151691433 38.58887538 0.002753464 60.7 . . HIST1H2BN 6 27837760 27865798 N . N N -0.292489205 29.84314406 0.139774615 41.1 . . HIST1H2BO 6 27893463 27893843 N . N N -0.192077745 36.04213695 3.07E-05 75.2 . . HIST1H3A 6 26020490 26020900 N . N N -0.458359319 21.93667882 3.98E-05 74.5 . . HIST1H3B 6 26031650 26032060 N . N N -0.540092197 18.56225039 0.307282993 35.6 . . HIST1H3C 6 26045411 26045821 N . N N -0.478152026 21.08004862 0.215540519 38.2 . . HIST1H3D 6 26196840 26197250 N . N N -0.344053504 27.04173178 0.011195071 54.4 . . HIST1H3E 6 26225155 26225565 N . N N -0.416212455 23.64993923 0.000813429 65.5 . . HIST1H3F 6 26250195 26250605 N . N N -0.299035003 29.50743763 0.042215362 48 . . HIST1H3G 6 26269405 26271815 N . N N -0.440636427 22.72385252 1.71E-05 76.7 . . HIST1H3H 6 27810064 27811300 N . N N -0.375023253 25.68154193 0.024939156 50.5 . . HIST1H3I 6 27871905 27872315 N . N N -0.321544247 28.21670429 0.360879945 33.9 . . HIST1H3J 6 27890382 27893106 N . N N -0.179942957 36.73091393 0.695883937 24.7 . . HIST1H4A 6 26021679 26021990 N . N N 0.275027119 68.98767147 0.002285403 61.5 . . HIST1H4B 6 26026815 26027252 N . N N -0.141317516 39.35289691 0.008541827 55.5 . . HIST1H4C 6 26103876 26104310 N . N N -0.426587603 23.26214042 8.86E-05 72.3 . . HIST1H4D 6 26188765 26189076 N . N N -0.31116943 28.88232911 0.0022643 61.5 . . HIST1H4E 6 26204645 26204956 N . N N -0.350599275 26.7407536 0.000642251 66.2 . . HIST1H4F 6 26240426 26240737 N . N N -0.395617806 24.63390635 0.181985151 39.2 . . HIST1H4G 6 26246681 26246977 N . N N -0.072985841 44.23221624 0.002629997 60.9 . . HIST1H4H 6 26285113 26285509 N . N N -0.600117693 16.70428894 0.008790329 55.4 . . HIST1H4I 6 27138588 27139881 N . N N -0.20804097 35.04659374 0.446296013 31.5 . . HIST1H4J 6 27824108 27824480 N . N N -0.344053504 27.04173178 0.42375383 32.2 . . HIST1H4K 6 27831216 27831527 N . N N -0.540092197 18.56225039 0.429118935 32 . . HIST1H4L 6 27873199 27873510 N . N N 0.072442927 55.09058286 0.191234624 38.9 . . HIST2H2AA3 1 149842188 149842736 N . N N . . . . . . HIST2H2AA4 1 149851061 149851624 N . N N . . . . . . HIST2H2AB 1 149887524 149887916 N . N N -0.178028729 36.84667477 0.216215034 38.2 . . HIST2H2AC 1 149886975 149887364 N . N N -0.450054414 22.26080917 0.209670055 38.5 . . HIST2H2BE 1 149842204 149886652 N . N Y -0.15647662 38.26474504 0.487682589 30.3 . . HIST2H2BF 1 149782689 149812373 N . N N -0.018550615 48.01759565 0.025999981 50.4 . . HIST2H3A 1 149852619 149854274 N . N N . . . . . . HIST2H3C 1 149839538 149841193 N . N N . . . . . . HIST2H3D 1 149813271 149813681 N . N N -0.212672702 34.75719164 0.49893728 30 . . HIST2H3PS2 1 143905556 143905966 N . N N . . 0.13598352 41.3 . . HIST2H4A 1 149832659 149839767 N . N N . . . . . . HIST2H4B 1 149854045 149861210 N . N N . . . . . . HIST3H2A 1 228456979 228457873 N . N N -0.223047092 34.13208312 0.484381729 30.4 . . HIST3H2BB 1 228458107 228460470 N . N N -0.59261449 16.93002257 0.022826387 51 . . HIST3H3 1 228424845 228425325 N . N N 0.222654188 65.80424842 0.000822081 65.4 DM . HIST4H4 12 14767999 14771131 N . N N -0.230550154 33.7153441 0.260791363 36.7 . . HIVEP1 6 12008762 12164999 N . N N -0.90340038 9.515540893 0.999986917 2.7 . . HIVEP2 6 142751467 142945201 N . N Y -2.554537125 0.937662789 0.999999664 1.4 DM? . HIVEP3 1 41506365 42035925 N . N Y 0.429900454 77.4034844 0.030810602 49.5 . . HJURP 2 233833416 233854566 N . N N 0.408772001 76.28639231 1.26E-05 77.5 . . HK1 10 69269984 69401882 N . N N -1.534108474 3.183423048 0.55573331 28.5 DM . HK3 5 176880869 176899332 N . N N 0.425050837 77.0851421 1.16E-14 96.7 . . HKDC1 10 69220303 69267559 N . N N -0.252306318 32.28569775 1.85E-12 95 . . HKR1 19 37312837 37369365 N . N N 0.770839849 88.58019332 2.72E-10 92.2 . . HLA-A 6 29941260 29945884 N . N Y 8.683577596 99.94790762 0.132779665 41.4 FP {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) HLA-B 6 31353872 31357188 N . N N 6.678780804 99.90739133 0.002664635 60.8 DP {Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) HLA-C 6 31268749 31357158 N . N Y 8.184183119 99.93633154 9.95E-10 91.1 DM {Psoriasis susceptibility 1}, 177900 (3); {HIV-1 viremia, susceptibility to}, 609423 (3) HLA-DMA 6 32948613 32969094 N . N Y 0.491810698 80.14701626 0.687977633 24.9 . . HLA-DMB 6 32934629 32941070 N . N N 0.378306375 74.85095792 0.004905106 58.2 FP . HLA-DOB 6 32812763 32817048 N . N N 0.106281943 57.6662615 9.09E-05 72.2 . . HLA-DPA1 6 33064569 33080775 N . N N 1.352154859 96.12779997 0.000185717 70 . . HLA-DPB1 6 33075926 33087201 N . N N 2.854615681 99.43277189 7.18E-09 89.3 DP {Beryllium disease, chronic, susceptibility to} (3) HLA-DQA1 6 32628179 32647062 N . N Y 3.886575016 99.73953811 0.16662533 39.9 DM? {Celiac disease, susceptibility to}, 212750 (3) HLA-DQA2 6 32741342 32747215 N . N N 3.668710906 99.69902182 0.005044064 58.1 . . HLA-DQB1 6 32659467 32668383 N . N Y 4.017167969 99.78005441 0.353015152 34.1 DP {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3); {Multiple sclerosis, susceptibility to, 1}, 126200 (3); {Celiac disease, susceptibility to}, 212750 (3) HLA-DQB2 6 32756098 32763534 N . N N 0.975857343 92.39451294 0.009355929 55.2 . . HLA-DRA 6 32439842 32445046 N . N N 0.346381025 73.21294206 0.70016489 24.6 DP . HLA-DRB1 6 32552990 32589848 N . N N 6.957514208 99.91317937 5.62E-05 73.6 DM {Pemphigoid, susceptibility to} (2); {Sarcoidosis, susceptibility to, 1}, 181000 (3); {Multiple sclerosis, susceptibility to, 1}, 126200 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3) HLA-DRB5 6 32517343 32530287 N . N N . . 0.003227266 60 FP . HLA-E 6 30489467 30494205 N . N Y 0.206691474 64.80870522 0.347084032 34.3 DP . HLA-F 6 29722775 29738528 N . N Y 0.500418343 80.45957053 4.40E-05 74.3 . . HLA-G 6 29826967 29831125 N . N N 0.477908896 79.66082074 9.55E-08 86.2 DFP {Asthma, susceptibility to}, 600807 (2) HLCS 21 36750888 36990236 N . N N -0.370739403 25.83781907 0.486548324 30.4 DM Holocarboxylase synthetase deficiency, 253270 (3) HLF 17 55265012 55325065 N . N N -0.59261449 16.93002257 0.877861798 18.7 . . HM13 20 31514428 31577923 N . N N -0.445267562 22.48075476 0.882288325 18.5 . . HMBOX1 8 28890394 29064764 N . N N -0.468734171 21.47363547 0.997096381 7.5 . . HMCES 3 129278828 129306186 N . N N -0.192881585 36.00162065 4.52E-05 74.2 . . HMCN1 1 185734551 186190949 N . N N -1.640677262 2.720379696 2.19E-18 98.3 DM {Macular degeneration, age-related, 1}, 603075 (3) HMCN2 9 130265882 130434123 N . N N . . . . . . HMG20A 15 77420412 77485607 N . N N -0.195752553 35.7874631 0.932476251 15.9 . . HMG20B 19 3572777 3579088 N . N N 0.322915185 71.92799676 0.342236181 34.5 . . HMGA2 12 65824131 65966295 N . N Y 0.190579485 63.80158592 0.733852104 23.6 DM Leiomyoma, uterine, somatic, 150699 (2) HMGB2 4 173331695 173335125 N . N Y -0.079531963 43.66498813 0.907849743 17.4 . . HMGB3 X 150980509 150990775 N . N Y -0.10491211 41.78387452 0.770459764 22.6 . ?Microphthalmia, syndromic 13, 300915 (3) HMGB4 1 33860475 33864791 N . N N 0.409275399 76.30375644 9.96E-06 78.1 . . HMGCLL1 6 55434369 55579214 N . N N 0.180505995 63.22856977 8.77E-07 82.7 . . HMGCS1 5 43289395 43313512 N . N N -0.112262427 41.3266192 0.972848684 12.7 . . HMGCS2 1 119747996 119768905 N . N N -0.539784071 18.5911906 1.06E-08 88.9 DM HMG-CoA synthase-2 deficiency, 605911 (3) HMGN2 1 26472450 26475972 N . N N -0.044887353 46.22330266 0.796674559 21.8 . . HMGN3 6 79201245 79234738 N . N Y 0.334096466 72.51837703 0.175434355 39.5 . . HMGN4 6 26538405 26546254 N . N N 0.334096466 72.51837703 0.557082342 28.5 . . HMGN5 X 81113701 81201942 N . N Y . . 0.32671565 35 . . HMGXB3 5 150000046 150053142 N . N N . . . . . . HMGXB4 22 35257452 35295807 N . N N -0.771579694 12.14909996 0.218813415 38.1 . . HMHA1 19 1065923 1086628 N . N N -1.01412853 7.68651965 0.453633762 31.3 DM? . HMHB1 5 143812161 143820719 N . N N 0.431639031 77.47872895 . . . . HMMR 5 163460203 163491945 N . N Y 0.955553563 92.0993228 1.04E-14 96.7 . {Breast cancer, susceptibility to}, 114480 (3) HMOX2 16 4474690 4510347 N . N Y 0.253623009 67.679574 0.001100656 64.3 DP . HMP19 5 174045604 174243501 N . N N -0.313083888 28.69711177 . . . . HMSD 18 63949301 63981774 N . N N 0.176529703 62.94495572 0.002323952 61.4 FP . HN1 17 75135248 75168281 N . N N 0.132467594 59.58789142 0.019313451 51.9 . . HN1L 16 1678256 1702280 N . N N 0.003958565 49.8061006 0.516099964 29.5 . . HNF4G 8 75407914 75566843 N . N Y -0.470494176 21.42154309 0.54463419 28.8 . . HNMT 2 137964020 138016364 N . N N 0.049127994 53.35995833 0.096729383 43.4 DFP {Asthma, susceptibility to}, 600807 (3) HNRNPA0 5 137745651 137754376 N . N N -0.041059779 46.53585692 0.863701458 19.3 . . HNRNPA1 12 54280193 54287088 N . N N -0.10763024 41.63338543 0.966614388 13.4 DM ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3, 615424 (3); Amyotrophic lateral sclerosis 20, 615426 (3) HNRNPA1L2 13 52640786 52643796 N . N N 0.875585258 90.67546449 6.70E-05 73 . . HNRNPA2B1 7 26189927 26201529 N . N N -0.402163571 24.28662384 0.970043353 13 DM . HNRNPA3 2 177212563 177223958 N . N N -0.426587603 23.26214042 0.99264494 9.3 . . HNRNPAB 5 178204507 178211180 N . N N -0.196709583 35.69485443 0.960162612 13.9 . . HNRNPCL1 1 12847377 12947578 N . N N 3.533647902 99.67586965 0.010723266 54.6 . . HNRNPCL2 1 13115496 13116854 N . N N . . . . . . HNRNPCL3 1 13060869 13062229 N . N N . . . . . . HNRNPCL4 1 13164586 13165467 N . N N . . . . . . HNRNPD 4 82352498 82374503 N . N Y -0.15743371 38.19528853 0.957344185 14.2 . . HNRNPDL 4 82422564 82430408 N . N N -0.238856623 33.14811599 0.916051063 17 . Limb-girdle muscular dystrophy, type 1G, 609115 (3) HNRNPF 10 43385617 43409166 N . N N -0.443353128 22.55021126 0.864039577 19.3 . . HNRNPH1 5 179614178 179634784 N . N N -0.319629709 28.30352492 0.999148294 5.7 . . HNRNPH2 X 101408295 101414133 N . N N -0.216501186 34.48515367 0.86828424 19.1 . . HNRNPH3 10 68331174 68343191 N . N N -0.062612024 44.95572148 0.996456324 7.8 FP . HNRNPK 9 83968083 83980616 N . N N -0.787699492 11.80181745 0.999782389 4.4 . Au-Kline syndrome, 616580 (3) HNRNPLL 2 38561978 38603586 N . N N -0.89083175 9.776002778 0.005394388 57.8 . . HNRNPM 19 8444767 8489114 N . N N -1.379383555 4.063205418 0.999948049 3.3 . . HNRNPR 1 23303771 23344336 N . N N -0.820428635 11.15934479 0.999079074 5.8 . . HNRNPUL1 19 41262496 41307598 N . N N -1.24335267 5.16293338 0.999847512 4.1 . . HNRNPUL2 11 62712630 62727349 N . N N -0.455336082 22.06980379 0.999925395 3.5 . . HNRNPUL2-BSCL2 11 62690275 62727384 N . N N . . . . . . HOGA1 10 97584323 97612802 N . N N 0.204928458 64.67558025 7.33E-06 78.8 DM Hyperoxaluria, primary, type III, 613616 (3) HOMER1 5 79372636 79514217 N . N Y -0.465060678 21.67042889 0.995922024 8 . . HOMER2 15 82836946 82986153 N . N Y -0.374868313 25.69311802 0.054546879 46.5 DP . HOMER3 19 18929201 18941261 N . N N 0.023748636 51.34571974 0.222332288 37.9 . . HOMEZ 14 23272422 23299447 N . N N 0.206841947 64.8202813 0.342229012 34.5 DM . HOOK1 1 59814786 59876378 N . N N -0.943201879 8.820975864 4.16E-05 74.4 . . HOOK2 19 12763003 12872740 N . N N 0.256796681 67.83585113 6.32E-09 89.4 . . HOOK3 8 42896932 43030539 N . N N -1.067087781 6.963014412 0.999998005 1.9 . . HORMAD1 1 150698060 150720888 N . N Y 0.372716004 74.56155583 0.003126913 60.1 DM? . HORMAD2 22 30080174 30177075 N . N Y 0.439288148 77.85495167 3.45E-05 74.9 . . HOXA10 7 27170591 27180261 N . N Y 0.288268772 69.80378538 0.678435261 25.2 DM . HOXA10-HOXA9 7 27163535 27180013 N . N N . . . . . . HOXA11 7 27181510 27185223 N . N Y 0.227287513 66.09365052 0.863825169 19.3 DM Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3) HOXA4 7 27128507 27130799 N . N Y 0.399859596 75.829137 0.00942667 55.2 DM . HOXA6 7 27145396 27150603 N . N Y -0.294249011 29.74474735 1.80E-05 76.5 . . HOXA7 7 27153716 27157936 N . N Y 0.146667159 60.78022805 0.00316907 60.1 . . HOXA9 7 27162435 27175180 N . N Y 0.152256873 61.16223881 0.000100013 71.9 . . HOXB13 17 48724763 48729178 N . N Y -0.239813643 33.09023557 0.009874751 55 DM . HOXB5 17 48591257 48593961 N . N Y -0.098213329 42.19482549 0.481440388 30.5 DP . HOXB6 17 48595751 48604992 N . N Y -0.079531963 43.66498813 0.009583407 55.1 DM . HOXB7 17 48607227 48633572 N . N Y 0.467388591 79.20356543 0.007596391 56.2 . . HOXB8 17 48611377 48614939 N . N Y -0.130139339 40.0821902 0.444768418 31.6 . . HOXB9 17 48621159 48626356 N . N Y 0.180355903 63.21120565 0.101637476 43 . . HOXC10 12 53985065 53990279 N . N Y 0.042581773 52.76957805 0.648346218 26.1 . . HOXC11 12 53973126 53977643 N . N N 0.152256873 61.16223881 0.078695281 44.5 . . HOXC12 12 53954834 53958956 N . N N -0.227678773 33.88319731 1.89E-09 90.6 . . HOXC5 12 54032853 54035358 N . N N 0.097822207 56.98327256 0.039073776 48.4 . . HOXC6 12 53990624 54030823 N . N Y 0.005872186 49.93922556 0.907689925 17.5 . . HOXC9 12 53994895 54003337 N . N Y -0.031643 47.17832957 0.128099662 41.6 . . HOXD1 2 176188579 176190907 N . N Y 0.098778904 57.07588123 0.01058846 54.7 . . HOXD10 2 176108790 176119942 N . N Y -0.010895966 48.63112809 0.132556118 41.4 DM Vertical talus, congenital, 192950 (3); Charcot-Marie-Tooth disease, foot deformity of, 192950 (3) HOXD11 2 176104216 176109754 N . N Y . . 0.013189848 53.8 . . HOXD12 2 176099730 176101193 N . N Y 0.709552984 87.11003068 0.003345917 59.9 . . HOXD13 2 176092891 176095938 N . N Y 0.387722289 75.27927302 0.332069485 34.8 DM Synpolydactyly, type II, 186000 (3); Brachydactyly, type E, 113300 (3); Brachydactyly, type D, 113200 (3); Synpolydactyly with foot anomalies, 186000 (3); Syndactyly, type V, 186300 (3); ?Brachydactyly-syndactyly syndrome, 610713 (3) HOXD4 2 176151222 176153226 N . N Y -0.127268446 40.25583145 0.167399011 39.8 DM . HOXD8 2 176129694 176132695 N . N Y 0.317324799 71.58071424 0.617630962 27 . . HOXD9 2 176122720 176124937 N . N Y 0.104368575 57.54471262 0.422099308 32.2 . . HPCA 1 32885994 32898441 N . N Y -0.254973777 32.16414887 0.433846186 31.8 . Dystonia 2, torsion, autosomal recessive, 224500 (3) HPCAL1 2 10302889 10427617 N . N N -0.254016546 32.19887712 0.779954229 22.3 . . HPCAL4 1 39678648 39691689 N Viable N Y -0.10204113 42.00382011 0.018422751 52.1 . . HPD 12 121839527 121863596 N . N N -0.060546352 45.05411819 0.007765206 56.1 DM Tyrosinemia, type III, 276710 (3); Hawkinsinuria, 140350 (3) HPDL 1 45326905 45328533 N . N N -0.139403663 39.45708167 0.013964827 53.5 . . HPGDS 4 94298535 94342876 N . N Y 0.401772227 75.92174567 8.22E-07 82.9 . . HPN 19 35040506 35066571 N . N Y -0.110348593 41.44238004 0.997916182 7 . . HPR 16 72063224 72077246 N . N N 1.509891283 97.01337038 2.95E-07 84.6 . . HPRT1 X 134460153 134520513 N . N Y 0.06765942 54.67384384 0.916893576 16.9 DM Lesch-Nyhan syndrome, 300322 (3); HPRT-related gout, 300323 (3) HPS3 3 149129584 149173732 N . N N 0.036490487 52.31232274 3.52E-15 97 DM Hermansky-Pudlak syndrome 3, 614072 (3) HPS4 22 26443423 26483837 N . N Y 0.384503612 75.11141981 1.40E-05 77.2 DM Hermansky-Pudlak syndrome 4, 614073 (3) HPS5 11 18278668 18322198 N . N N 0.366781783 74.17375702 9.08E-06 78.3 DM Hermansky-Pudlak syndrome 5, 614074 (3) HPS6 10 102065390 102068038 N . N N -0.581933287 17.32939746 0.301742442 35.7 DM Hermansky-Pudlak syndrome 6, 614075 (3) HPSE 4 83292461 83335153 N Viable N Y -0.043626754 46.35063958 1.81E-08 88.3 . . HPSE2 10 98457077 99235862 N . N N -0.22178469 34.23626787 1.85E-06 81.5 DM Urofacial syndrome 1, 236730 (3) HPX 11 6431049 6442617 N . N Y 0.434803554 77.64079412 0.004121447 58.9 . . HRAS 11 532242 537287 N . N Y -0.379654309 25.47317243 0.007941049 56 DM {Bladder cancer, somatic}, 109800 (3); Costello syndrome, 218040 (3); {Thyroid carcinoma, follicular, somatic}, 188470 (3); Congenital myopathy with excess of muscle spindles, 218040 (3); {Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); {Spitz nevus or nevus spilus, somatic}, 137550 (3) HRASLS 3 193241125 193277738 N . N N 0.353884195 73.67019737 0.000717831 65.9 . . HRASLS2 11 63552770 63563383 N . N N 0.170939673 62.57452104 0.018273804 52.1 . . HRASLS5 11 63461404 63491194 N . N N 1.427198658 96.52717486 0.00012337 71.3 . . HRC 19 49151198 49155424 N . N Y 2.87664955 99.45013602 3.14E-05 75.1 DFP . HRCT1 9 35906192 35907141 N . N N 1.30139682 95.80945766 0.15829062 40.3 . . HRG 3 186660216 186678240 N . N Y 1.271668837 95.5663599 1.70E-12 95.1 DM Thrombophilia due to HRG deficiency, 613116 (3); Thrombophilia due to elevated HRG, 613116 (1) HRH1 3 11137093 11263557 N . N Y 0.260319777 68.05579672 0.001561168 62.9 . . HRH2 5 175658030 175686242 N . N Y -0.61320898 16.38015859 0.835273259 20.4 DFP . HRH3 20 62214970 62220267 N . N Y -0.079379727 43.6881403 0.366881478 33.7 DFP . HRH4 18 24460629 24479957 N . N Y 0.036035566 52.3065347 1.67E-07 85.5 DFP . HRK 12 116856144 116881441 N . N Y . . . . . . HRNR 1 152212082 152224193 N . N N 13.3972395 99.96527175 5.01E-29 99.6 . . HRSP12 8 98102344 98117241 N . N N -0.125507302 40.39474446 0.281991269 36.2 . . HS1BP3 2 20560448 20651089 N . N N 0.660855672 85.94663425 0.000353325 68.2 DP . HS3ST2 16 22814177 22916338 N . N N -0.265193969 31.55061643 0.212162588 38.4 . . HS3ST3A1 17 13495689 13601927 N . N N . . . . . . HS3ST3B1 17 14301083 14349404 N . N N 0.100692319 57.27267465 0.085454927 44.1 . . HS3ST4 16 25692026 26137688 N . N N 0.136294125 59.95253806 0.581015605 27.9 . . HS3ST5 6 114055586 114343045 N . N N 0.00315321 49.71927997 0.569245913 28.2 . . HS3ST6 16 1911463 1918440 N . N N 1.202071758 95.03386005 0.003223754 60 . . HS6ST2 X 132626016 132961395 N . N Y 0.455250847 78.5495167 0.119199983 42.1 . . HS6ST3 13 96090839 96839562 N . N N 0.262082672 68.1773456 0.747377573 23.2 . . HSBP1L1 18 79964561 79970822 N . N N . . . . . . HSCB 22 28742031 28757515 N . N N 0.037797903 52.3759912 0.00014192 70.8 . . HSD11B1 1 209686178 209734950 N . N Y -0.478152026 21.08004862 0.691555251 24.8 DM Cortisone reductase deficiency 2, 614662 (3) HSD11B1L 19 5680604 5688523 N . N N . . 0.001696306 62.5 . . HSD17B1 17 42549214 42555213 N Viable N Y -0.410469485 23.93355328 0.056017513 46.4 DP . HSD17B10 X 53431258 53434373 N . N N 0.062069705 54.29762111 0.886870268 18.3 DM 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3); ?Mental retardation, X-linked syndromic 10, 300220 (3) HSD17B11 4 87336610 87391386 N Viable N Y -0.273654159 31.05284482 0.000142446 70.8 . . HSD17B13 4 87303789 87322906 N . N N 0.518145495 81.19465185 0.001957426 61.9 . . HSD17B14 19 48813017 48836678 N . N N 1.132624181 94.35665914 0.001372525 63.5 . . HSD17B3 9 96235306 96302152 N . N N -0.338310159 27.33692192 2.49E-05 75.7 DM Pseudohermaphroditism, male, with gynecomastia, 264300 (3) HSD17B6 12 56752161 56787790 N . N N 0.480629485 79.77658158 0.381986471 33.3 . . HSD17B8 6 33204642 33206831 N . N N 0.14284054 60.39821728 0.744497984 23.3 . . HSD3B1 1 119507198 119515054 N . N N 0.510791519 80.90524975 8.51E-05 72.4 DP . HSD3B2 1 119414931 119423035 N . N N 0.165499977 62.20408636 1.21E-06 82.3 DM 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) HSDL1 16 84122146 84145192 N . N N -0.826017495 11.02621983 0.000929031 65 . . HSDL2 9 112379937 112472410 N . N N -0.109391694 41.51183655 3.95E-05 74.5 . . HSF2 6 122399546 122433119 Y Viable N Y -0.707878759 13.69450715 0.919340111 16.7 DM . HSF2BP 21 43529192 43659493 N Viable N Y 0.1035625 57.4868322 6.37E-10 91.5 . . HSF4 16 67163385 67169945 N Viable N Y 0.327847069 72.2231869 2.50E-10 92.2 DM Cataract 5, multiple types, 116800 (3) HSF5 17 58420167 58488384 N . N N 0.022943191 51.29941541 0.741540032 23.4 . . HSFX1 X 149774068 149776867 N . N N . . . . . . HSFX2 X 149592515 149594716 N . N N . . . . . . HSFY1 Y 18546671 18588963 N . N N . . . . DM? . HSFY2 Y 18731440 18828662 N . N N . . . . . . HSH2D 19 16134028 16158575 N . N Y . . . . . . HSPA12A 10 116671192 116742574 N . N N -0.535957502 18.74167969 0.980307172 11.7 . . HSPA12B 20 3732667 3753111 N . N N 0.17587319 62.9275916 0.010508204 54.7 . . HSPA13 21 14371115 14383484 N . N N -0.274457717 31.01811657 0.00188637 62.1 . . HSPA14 10 14838164 14871741 N . N N -0.379500211 25.48474851 0.991685162 9.5 . . HSPA1A 6 31815464 31817946 N . N Y . . . . DFP . HSPA1B 6 31827735 31830255 N . N Y . . . . DFP . HSPA1L 6 31809619 31815065 N . N N -0.186988947 36.33732708 2.19E-06 81.1 DP . HSPA2 14 64535905 64546173 N . N Y -0.701178982 13.88551253 . . . . HSPA4 5 133051962 133106449 N . N Y -0.507858025 19.88771199 0.999958226 3.2 . . HSPA4L 4 127781821 127840733 N . N Y -0.466515898 21.58939631 0.030011121 49.6 . . HSPA6 1 161524540 161526910 N . N N 1.2323896 95.32326214 0.461296069 31.1 . . HSPA8 11 123057489 123063230 N . N N -1.333552846 4.456792267 0.997882601 7 DFP . HSPA9 5 138554882 138575444 N . N N -0.888763627 9.822307114 0.981119322 11.6 DM? . HSPB1 7 76302544 76304295 N Viable N Y -0.396575171 24.57602593 6.92E-06 79 DM Neuropathy, distal hereditary motor, type IIB, 608634 (3); Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) HSPB2 11 111912242 111914093 N Viable N Y 0.180355903 63.21120565 0.211781189 38.4 . . HSPB2-C11orf52 11 111912736 111926871 N . N N . . . . . . HSPB3 5 54455601 54456384 N Viable N Y 0.482395106 79.81709788 0.000440374 67.4 DM ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3) HSPB6 19 35754568 35758079 N . N N . . 0.391248531 33 DM . HSPB7 1 16014028 16019594 N . N N 0.196318636 64.16623256 0.013149237 53.8 DP . HSPB8 12 119178642 119221131 N . N Y 0.13438084 59.79626092 0.02775547 50.1 DM Neuropathy, distal hereditary motor, type IIA, 158590 (3); Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) HSPB9 17 42121431 42123352 N . N N 0.353884195 73.67019737 5.41E-05 73.7 . . HSPBAP1 3 122740003 122793824 N . N N 0.19742545 64.22990102 9.98E-07 82.5 . . HSPBP1 19 55262231 55280381 N . N Y 0.064133998 54.51756671 0.009480862 55.2 . . HSPC047 7 102672879 102678856 N . N N . . . . . . HSPE1 2 197499994 197503457 N . N N 0.174616683 62.82340684 0.787528048 22.1 . . HSPE1-MOB4 2 197500413 197550726 N . N N -0.020464318 47.86710656 0.889798358 18.2 . . HSPH1 13 31134974 31162388 N . N Y -0.338963051 27.30798171 0.983009121 11.3 . . HTATIP2 11 20363685 20383783 N . N Y -0.202298558 35.34178387 3.64E-12 94.8 . . HTATSF1 X 136497079 136512346 N . N N -0.168458721 37.48335938 0.973206628 12.6 . . HTN1 4 70050402 70058845 N . N N 0.653060723 85.71511258 0.00180852 62.3 . . HTN3 4 70028413 70036538 N . N N 0.319090009 71.70805117 0.000271793 68.9 FP . HTR1A 5 63960356 63962507 N Viable N Y -0.038037426 46.71528622 0.926694463 16.3 DM Periodic fever, menstrual cycle dependent, 614674 (3) HTR1D 1 23191895 23194729 N Viable N Y 0.226480797 66.06471031 0.813006425 21.2 . . HTR1E 6 86937306 87016683 N . N N -0.421801054 23.46472188 0.023709766 50.8 . . HTR1F 3 87990696 87993835 N Viable N Y -0.557814484 17.98923424 0.001614775 62.8 . . HTR2A 13 46831550 46897076 N . N Y -0.714424723 13.54401806 0.77277361 22.5 DFP {Schizophrenia, susceptibility to}, 181500 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3); {Seasonal affective disorder, susceptibility to}, 608516 (3); {Alcohol dependence, susceptibility to}, 103780 (3); {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3) HTR3A 11 113974881 113990313 N . N Y -0.468429026 21.50257568 1.03E-09 91.1 DM? . HTR3B 11 113904677 113946565 N Viable N Y 0.978869896 92.46975748 6.15E-07 83.4 DFP . HTR3C 3 184053047 184060671 N . N N 0.413251052 76.53527812 2.34E-08 88 DP . HTR3D 3 184031544 184039369 N . N N 1.173011897 94.76761012 2.59E-06 80.8 . . HTR3E 3 184097064 184106995 N . N N 1.150649146 94.52451236 0.001336466 63.6 DFP . HTR5A 7 155070324 155085749 N . N Y -0.166544931 37.66857672 0.005788634 57.4 DP . HTR6 1 19665287 19679562 N . N Y -0.300642103 29.41482896 0.001067254 64.5 DP . HTR7 10 90740823 90857698 N Viable N Y -0.796961222 11.64554031 0.034017699 49.1 FP . HTRA1 10 122461525 122514908 N . N Y -0.738849285 12.91312149 0.016947547 52.5 DM {Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3); CARASIL syndrome, 600142 (3) HTRA2 2 74529377 74533348 N Viable N Y -0.253862657 32.21624125 0.002301276 61.4 DM {Parkinson disease 13}, 610297 (3) HTRA3 4 8269765 8307111 N . N N 0.190879187 63.84789026 1.72E-05 76.7 . Vitreoretinopathy, neovascular inflammatory, 193235 (3) HTRA4 8 38974164 38988662 N Viable N Y 0.209561389 65.04601493 2.53E-07 84.8 . . HUNK 21 31873315 32044633 N . N Y 0.123503895 59.02066331 0.997271075 7.4 . . HUS1B 6 655939 656963 N . N N 0.688955753 86.6296232 0.008313233 55.7 DP . HVCN1 12 110627841 110704950 N . N Y 0.302318539 70.64305146 0.750490678 23.1 FP . HYAL1 3 50299889 50312381 N . N Y -0.156171384 38.30526133 0.005536706 57.7 DM ?Mucopolysaccharidosis type IX, 601492 (3) HYAL3 3 50292828 50299468 N . N N -0.090558257 42.75047751 1.52E-05 77 . . HYAL4 7 123828983 123877478 N Viable N Y 0.655265795 85.79614516 2.05E-15 97.1 . . HYI 1 43451003 43453989 N . N N 0.363300057 74.07536031 3.16E-08 87.6 . . HYKK 15 78507564 78537372 N . N N 0.504095467 80.61584766 0.000214856 69.6 . . HYLS1 11 125883614 125900648 N . N N 0.054717474 53.7014528 5.82E-05 73.5 DM Hydrolethalus syndrome, 236680 (3) HYPK 15 43796142 43803043 N . N N 0.147473793 60.82653238 0.02103075 51.4 . . HYPM X 37990817 37991317 N . N N . . . . . . HZGJ 2 68130149 68261230 N . N N . . . . . . IAH1 2 9473658 9496543 N Viable N Y -0.045692193 46.15384615 0.000119135 71.3 . . IAPP 12 21354959 21379978 N . N Y 0.342555909 72.99878451 0.166030146 39.9 DM . IARS 9 92210207 92293756 N . N N -1.173494473 5.86328645 4.35E-09 89.7 . . IARS2 1 220094102 220148041 N . N N -0.382876691 25.276379 0.472741795 30.8 . ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3) IBA57 1 228165815 228182257 N . N N 0.123201392 58.99751114 0.083021015 44.2 DM ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3); ?Spastic paraplegia 74, autosomal recessive, 616451 (3) IBSP 4 87799581 87812435 N . N Y 0.428107326 77.30508769 7.13E-08 86.5 DP . IBTK 6 82169983 82247754 N . N N -0.683965545 14.41801239 0.901146102 17.7 . . ICA1 7 8113184 8262687 N . N Y -0.294095963 29.76211148 0.004950368 58.2 . . ICA1L 2 202773150 202871985 N . N N 0.013526612 50.54118192 0.442027586 31.7 . . ICAM1 19 10270835 10286615 N . N Y 0.494023468 80.24541298 0.117797321 42.2 DFP {Malaria, cerebral, susceptibility to}, 611162 (3) ICAM2 17 64002594 64020634 N . N Y 0.593178019 83.91503154 0.023266939 50.9 . . ICAM3 19 10333776 10339823 N . N N 0.38052018 74.94356659 2.08E-22 99.1 . . ICAM4 19 10286967 10288522 N . N Y 0.366169324 74.15639289 1.53E-05 77 FP [Blood group, Landsteiner-Wiener], 111250 (3) ICAM5 19 10289981 10296778 N . N N -0.590393082 17.04578341 . . DP . ICE1 5 5420664 5490234 N . N N . . . . . . ICE2 15 60419609 60479160 N . N N . . . . . . ICK 6 53001279 53061802 N Viable N Y -0.730235358 13.15043121 0.107449829 42.7 DM Endocrine-cerebroosteodysplasia, 612651 (3) ICOS 2 203936748 203961577 N . N Y 0.072442927 55.09058286 0.052009229 46.8 DM Immunodeficiency, common variable, 1, 607594 (3) ICOSLG 21 44222991 44240966 N . N Y 0.16167322 61.90310818 0.042548452 47.9 . . ICT1 17 75012670 75021261 N . N N 0.407362793 76.21114777 0.019342733 51.9 . . ID1 20 31605283 31606515 N . N Y 0.44679135 78.19644614 0.007655575 56.2 . . ID3 1 23557918 23559794 N . N Y 0.157846676 61.58476587 0.688794338 24.9 DFP . IDE 10 92451684 92574076 N . N Y -1.328621411 4.491520519 0.426771018 32.1 DFP . IDH1 2 208236227 208266074 N Viable N Y -0.190967704 36.11159345 0.001453708 63.1 DM {Glioma, susceptibility to, somatic}, 137800 (3) IDH2 15 90083045 90102504 N Viable N Y -0.609379428 16.47276726 0.376558105 33.4 DM D-2-hydroxyglutaric aciduria 2, 613657 (3) IDH3A 15 78131498 78171949 N . N N -0.151691433 38.58887538 0.23094836 37.7 . . IDH3B 20 2658395 2664219 N . N N -0.387003268 25.10852579 3.06E-05 75.2 DM Retinitis pigmentosa 46, 612572 (3) IDH3G X 153785766 153794523 N . N N 0.107238638 57.76465822 0.968084889 13.2 . . IDI1 10 1039908 1049170 N . N N -0.10763024 41.63338543 0.002050009 61.8 . . IDI2 10 1018907 1025859 N . N N -0.193838554 35.89164786 6.34E-09 89.4 FTV . IDNK 9 83623049 83644130 N . N Y 0.640921144 85.36783006 0.484632918 30.4 . . IDO1 8 39902275 39928444 N . N Y 0.21706442 65.48590612 1.42E-05 77.2 DM? . IDO2 8 39934614 40016391 N . N Y . . 9.40E-06 78.2 . . IDS X 149476990 149521096 N . N Y 0.375585437 74.723621 0.979259919 11.9 DM Mucopolysaccharidosis II, 309900 (3) IDUA 4 986997 1004506 N . N Y 0.610246384 84.49962378 2.64E-08 87.8 DM Mucopolysaccharidosis Ih, 607014 (3); Mucopolysaccharidosis Is, 607016 (3); Mucopolysaccharidosis Ih/s, 607015 (3) IER2 19 13150415 13154908 N . N N -0.033556726 47.03941657 0.681051567 25.1 . . IER3 6 30743199 30744554 N . N Y 0.168070043 62.3893037 0.671461599 25.5 . . IER3IP1 18 47152998 47176374 N . N N 0.001088113 49.55142675 0.018434689 52.1 DM Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) IER5 1 181088712 181092899 N . N N 0.17476603 62.85234705 0.666267931 25.6 . . IER5L 9 129175552 129178262 N . N N . . 0.829266816 20.7 . . IFFO1 12 6538375 6556083 N . N N -0.48167256 20.94692366 0.020732349 51.4 . . IFFO2 1 18904281 18956686 N . N N . . 0.382583916 33.2 . . IFI16 1 158999968 159055155 N . N N 0.268931648 68.63460091 0.002956041 60.4 . . IFI27 14 94104836 94116698 N . N N 0.442966544 78.02280489 0.056185609 46.3 . . IFI27L1 14 94081282 94103846 N . N N 0.745969788 87.98981305 0.076473378 44.7 . . IFI27L2 14 94127779 94130253 N . N N 0.026467762 51.52514904 0.001507401 63 . . IFI30 19 18173162 18178117 N . N Y . . 2.60E-05 75.6 DP . IFI35 17 43006725 43014456 N . N N 0.852118493 90.23557331 5.70E-08 86.8 . . IFI44 1 78649796 78664078 N Viable N Y -0.048259287 45.95126469 4.72E-14 96.4 . . IFI44L 1 78619922 78646145 N . N N 1.102755647 93.96886033 2.22E-10 92.4 FP . IFI6 1 27666061 27672218 N . N N . . 0.230931225 37.7 . . IFIT1 10 89392546 89406486 N . N Y 0.485412039 79.91549459 0.0053482 57.8 . . IFIT1B 10 89378056 89385205 N . N N 0.980783127 92.51606182 7.26E-09 89.3 . . IFIT2 10 89301955 89309276 N . N Y -0.363537126 26.20825375 0.001482201 63.1 . . IFIT3 10 89327894 89340971 N . N N 0.051041541 53.45835504 0.004426533 58.7 . . IFIT5 10 89414586 89421001 N . N N 0.392504758 75.48764253 0.05814235 46.2 . . IFITM1 11 313506 315272 N . N Y -0.018550615 48.01759565 0.221686063 37.9 . . IFITM10 11 1732410 1750591 N . N N . . . . . . IFITM2 11 307631 315272 N . N N 0.642833002 85.44886265 0.2993759 35.7 . . IFITM3 11 319669 327537 N . N Y 0.307908866 70.93824159 0.199202473 38.8 DFP {Influenza, severe, susceptibility to}, 614680 (3) IFNA1 9 21409169 21441316 N . N N 0.299449341 70.47519824 0.711485384 24.3 . Interferon, alpha, deficiency (1) IFNA10 9 21206181 21207143 N . N N 1.163595862 94.66342536 0.001872534 62.1 DP . IFNA13 9 21367424 21368962 N . N N 0.72537073 87.52676969 0.711459503 24.3 . . IFNA14 9 21239002 21239991 N . N N 0.171089591 62.59767321 . . . . IFNA16 9 21216373 21217311 N . N N 0.837111437 89.94617121 0.006569869 56.9 . . IFNA17 9 21206528 21228222 N . N N 1.351199238 96.12201192 0.007025822 56.6 DP . IFNA2 9 21384254 21385388 N . N N 0.369846866 74.37633848 0.044589404 47.6 DFP . IFNA21 9 21165637 21166660 N . N N 0.395225439 75.60340337 8.63E-08 86.3 . . IFNA4 9 21186694 21187671 N . N Y 1.380261207 96.28986514 0.240444347 37.4 . . IFNA5 9 21304326 21305312 N . N N 0.417734923 76.70313133 0.006836061 56.7 . . IFNA6 9 21349835 21351378 N . N N 0.44583509 78.14435377 0.000913991 65.1 . . IFNA7 9 21201469 21202205 N . N N 0.972176436 92.35399664 9.02E-05 72.2 . . IFNA8 9 21409147 21410185 N . N N 0.013375229 50.50645367 2.12E-06 81.2 . . IFNAR1 21 33324477 33359862 N . N Y -0.140208598 39.40498929 0.00062033 66.3 DP . IFNAR2 21 33229901 33265675 N . N Y -0.017290605 48.08126411 0.005066026 58 DP {Hepatitis B virus, susceptibility to}, 610424 (3) IFNB1 9 21077105 21077963 N . N Y 0.604360167 84.27967818 0.013694438 53.6 DM? . IFNE 9 21480839 21482313 N . N Y 0.302318539 70.64305146 8.79E-07 82.7 . . IFNG 12 68154768 68159747 N . N Y -0.081445868 43.46240667 0.020446566 51.5 DFP {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3); {Aplastic anemia}, 609135 (3); {Tuberculosis, protection against}, 607948 (3); {AIDS, rapid progression to}, 609423 (3);{Hepatitis C virus, response to therapy of}, 609532 (3) IFNGR1 6 137197484 137219449 N . N Y 0.183376188 63.43115124 0.327969027 34.9 DM Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3); {H. pylori infection, susceptibility to}, 600263 (3); {Tuberculosis, susceptibility to}, 607948 (3); Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3); {Tuberculosis infection, protection against}, 607948 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3) IFNGR2 21 33402896 33479348 N . N Y 0.00123959 49.58036696 0.881281109 18.6 DM Immunodeficiency 28, mycobacteriosis, 614889 (3) IFNK 9 27524314 27526498 N . N N 0.840791109 90.0272038 9.61E-09 88.9 . . IFNL1 19 39296325 39298673 N . N N 0.607228418 84.37228686 2.82E-05 75.3 . . IFNL2 19 39268514 39270092 N . N N 1.532262713 97.11176709 1.95E-05 76.3 FTV . IFNL3 19 39243553 39245129 N Viable N Y 2.262347004 98.95236442 1.16E-05 77.7 . {Hepatitis C virus infection, response to therapy of}, 609532 (3) IFNLR1 1 24154157 24187959 N . N Y -0.302555896 29.33379638 0.308615222 35.5 FTV . IFNW1 9 21140214 21142145 N . N N 0.689765371 86.64698732 0.006165915 57.1 . . IFRD1 7 112422968 112481017 N . N Y -0.412383648 23.80042832 0.105462457 42.8 DM? . IFRD2 3 50287732 50292918 N . N N -0.075552304 44.00069457 5.53E-06 79.4 . . IFT22 7 101313367 101321823 N Viable N Y . . . . . . IFT43 14 75902136 76084585 N . N N 0.352119595 73.52549632 4.38E-07 83.9 DM Cranioectodermal dysplasia 3, 614099 (3) IFT46 11 118544528 118572970 N . N N 0.29113834 69.98900272 0.950870755 14.7 . . IFT74 9 26947039 27062930 N . N Y 0.076572313 55.40892516 9.27E-06 78.3 . . IFT81 12 110124335 110218797 N . N N -0.584803178 17.23678879 5.76E-07 83.5 . . IGBP1 X 70133449 70166324 N . N N 0.453338311 78.48584824 0.933825158 15.9 DM Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3) IGDCC3 15 65327127 65378040 N . N Y -0.330354499 27.71893269 0.00023306 69.3 . . IGDCC4 15 65381464 65423072 N . N N 0.710176367 87.13318284 0.014885498 53.2 . . IGF2BP2 3 185643739 185825056 N . N N -0.673079812 14.68426231 0.942124149 15.4 . {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) IGF2BP3 7 23310209 23470467 N . N N -0.705964203 13.78132778 0.999726189 4.6 . . IGFALS 16 1790413 1794971 N . N Y 0.934957546 91.80413266 2.80E-05 75.4 DM Acid-labile subunit, deficiency of, 615961 (3) IGFBP1 7 45888357 45893668 N . N Y 0.119374702 58.69074492 0.00178328 62.4 DP . IGFBP2 2 216632828 216664436 N . N Y -0.154562494 38.40365804 0.844353785 20.1 . . IGFBP3 7 45912245 45921874 N Viable N Y 0.034927599 52.21971407 0.362251902 33.9 DFP . IGFBP4 17 40443461 40457731 N . N Y -0.033556726 47.03941657 0.23666901 37.5 . . IGFBP5 2 216672105 216695525 N . N N 0.314455675 71.33761648 0.85997835 19.5 DFP . IGFBP6 12 53097436 53102345 N . N N 0.337921524 72.70938242 0.092331337 43.6 . . IGFBP7 4 57030773 57110385 N Viable N Y . . 0.005963209 57.3 DM Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3) IGFBPL1 9 38408994 38424447 N . N N . . 0.008503933 55.6 . . IGFL1 19 46229752 46231243 N . N N 0.890449695 90.94171442 5.93E-06 79.2 . . IGFL2 19 46143106 46161299 N . N N 0.299449341 70.47519824 0.000244161 69.2 . . IGFL3 19 46120071 46124674 N . N N 0.177486232 63.00862418 0.001093786 64.4 . . IGFL4 19 46039748 46077118 N . N N 0.419500646 76.80152804 0.003129503 60.1 . . IGFLR1 19 35738801 35742453 N . N N 0.54080415 82.10337443 0.000164884 70.4 . . IGFN1 1 201190825 201228952 N . N N . . 2.50E-18 98.3 . . IGHMBP2 11 68903842 68940602 N . N N 0.931612255 91.74625224 1.51E-08 88.4 DM Neuronopathy, distal hereditary motor, type VI, 604320 (3); Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) IGIP 5 140125935 140129392 N . N N 0.379115977 74.87411009 0.419918844 32.3 . . IGLL1 22 23573125 23580308 N . N Y 1.752771321 98.07258205 0.017167742 52.4 DM Agammaglobulinemia 2, 613500 (3) IGLL5 22 22734620 22896107 N . N N 0.88117671 90.72176883 . . . . IGLON5 19 51311848 51330354 N . N N -0.076661182 43.91387394 0.822062298 20.9 . . IGSF1 X 131273506 131399703 N . N Y -0.162416454 37.83064189 0.996859546 7.6 DM Hypothyroidism, central, and testicular enlargement, 300888 (3) IGSF10 3 151425384 151458709 N . N N 0.884471867 90.8143775 2.99E-36 99.9 . . IGSF11 3 118900557 119146068 N Viable N Y -0.235985706 33.32175725 0.175167238 39.5 . . IGSF21 1 18107746 18378483 N . N N -0.30431789 29.24697575 0.547298803 28.7 . . IGSF22 11 18704305 18726230 N . N N 1.699908 97.89894079 1.20E-20 98.8 . . IGSF23 19 44613630 44636781 N . N N . . . . . . IGSF3 1 116574399 116667755 N . N N 0.248803099 67.37280778 0.987084919 10.6 . ?Lacrimal duct defect, 149700 (3) IGSF5 21 39745407 39802096 N . N Y 1.563379651 97.28540835 2.32E-11 93.8 . . IGSF6 16 21639537 21652660 N . N N 0.561252451 82.78636337 0.072554781 44.9 . . IGSF8 1 160091340 160098943 N . N N -0.253559528 32.24518146 2.28E-06 81.1 . . IGSF9 1 159927039 159945604 N . N Y -0.966240282 8.438965098 0.56891088 28.2 . . IGSF9B 11 133908564 133956985 N . N N -1.949401103 1.771140823 0.999873394 4 . . IK 5 140647058 140662479 N . N N -0.331764245 27.65526422 3.47E-06 80.3 . . IKBIP 12 98613405 98645113 N . N N 0.422667795 76.98674538 9.59E-05 72 DM? . IKBKE 1 206470476 206496889 N . N Y -0.400900992 24.36186838 0.804391777 21.5 DFP . IKZF3 17 39757715 39864188 N Viable N Y -0.756573024 12.45586618 0.994921788 8.5 . . IKZF4 12 56007659 56038435 N . N N 0.425387042 77.11408231 0.953608121 14.4 . . IKZF5 10 122990806 123008817 N Viable N Y -0.438721742 22.81646119 0.42273684 32.2 . . IL10 1 206767602 206772494 N . N Y 0.284443026 69.58383979 0.029162226 49.8 DM {HIV-1, susceptibility to}, 609423 (3); {Graft-versus-host disease, protection against}, 614395 (3); {Rheumatoid arthritis, progression of}, 180300 (3) IL10RA 11 117986348 118001483 N . N Y 0.953639376 92.07038259 0.968345856 13.2 DM Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3) IL10RB 21 33266358 33297234 N . N Y 0.311734573 71.17555131 0.000334787 68.4 DM . IL11 19 55364389 55370463 N . N N . . 0.427157856 32.1 . . IL12A 3 159988750 159996019 N . N Y 0.08936246 56.39289228 0.299096926 35.7 DP . IL12B 5 159314783 159330887 N . N Y 0.412144579 76.45424553 0.000223246 69.4 DM Immunodeficiency 29, mycobacteriosis, 614890 (3) IL12RB1 19 18058995 18098944 N Viable N Y 0.530736432 81.68084737 1.18E-07 85.9 DM Immunodeficiency 30, 614891 (3) IL12RB2 1 67307364 67396900 N Viable N Y 0.439741618 77.8723158 4.51E-06 79.8 DM . IL13 5 132656263 132661110 N Viable N Y 0.291946181 70.03530706 0.025714691 50.4 DFP {Asthma, susceptibility to}, 600807 (3); {Allergic rhinitis, susceptibility to}, 607154 (3) IL13RA1 X 118727572 118794539 N . N Y 0.302318539 70.64305146 0.979171606 11.9 . . IL13RA2 X 115003975 115019977 N . N Y -0.190163599 36.15789778 7.64E-05 72.7 . . IL15 4 141636599 141733987 N Viable N Y -0.125507302 40.39474446 0.917197527 16.9 . . IL15RA 10 5937569 5978187 N . N Y 0.397138302 75.69601204 3.17E-08 87.6 . . IL16 15 81159575 81314058 N . N Y -0.292401762 29.84893211 3.12E-05 75.1 DFP . IL17A 6 52186387 52190638 N . N Y 0.209411733 65.03443885 0.167208391 39.8 DFP . IL17B 5 149371324 149404202 N . N N 0.302318539 70.64305146 0.002074284 61.7 . . IL17C 16 88638591 88640473 N . N Y 0.154170188 61.31851595 0.000566477 66.6 . . IL17D 13 20702127 20723098 N . N N 0.571478862 83.14522197 0.158810135 40.2 . . IL17F 6 52236681 52244537 N . N Y 0.317324799 71.58071424 0.030273925 49.6 DM ?Candidiasis, familial, 6, autosomal dominant, 613956 (3) IL17RA 22 17084954 17115694 N . N Y 1.139630217 94.42611565 0.11941793 42.1 DM ?Candidiasis, familial, 5, autosomal recessive, 613953 (3) IL17RB 3 53846580 53865800 N . N Y 0.663725837 86.05660705 3.51E-08 87.4 DFP . IL17RC 3 9917074 9933630 N . N Y 0.171545609 62.62082537 4.25E-10 91.8 . Candidiasis, familial, 9, 616445 (3) IL17RD 3 57089982 57170306 N Viable N Y -0.372652286 25.7452104 2.64E-05 75.5 DM Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3) IL17RE 3 9902612 9916402 N . N Y 0.542717698 82.16125485 0.008619878 55.5 . . IL17REL 22 49994513 50012659 N . N N 0.738610262 87.81038375 0.327459012 34.9 DP . IL18 11 112143251 112164117 N Viable N Y 0.289077164 69.85587776 0.102774109 42.9 DFP . IL18BP 11 71998541 72005715 N Viable N Y 0.55566167 82.64745037 3.33E-06 80.3 . . IL18R1 2 102311529 102398775 N . N Y -0.635563637 15.77820223 5.02E-07 83.7 FP . IL18RAP 2 102418689 102452565 N . N Y -0.010744443 48.64270417 0.366507425 33.7 DFP . IL19 1 206798870 206842981 N . N N 0.261933591 68.13682931 0.020320233 51.6 DP . IL1A 2 112773915 112784590 N . N Y 0.916783155 91.42790994 1.12E-05 77.8 DFP . IL1B 2 112829751 112836903 N . N Y -0.312126643 28.79550848 0.925868312 16.3 DFP {Gastric cancer risk after H. pylori infection}, 137215 (3) IL1F10 2 113067970 113075850 N . N N 0.619366893 84.74272154 0.003960243 59.1 . . IL1R1 2 102064544 102179874 N . N Y -0.521102007 19.43624472 0.362921431 33.8 DFP . IL1R2 2 101991844 102028544 N Viable N Y 0.02389999 51.36308387 1.95E-07 85.2 . . IL1RAP 3 190514051 190659750 N . N Y -0.286592944 30.25409504 0.506746749 29.8 . . IL1RAPL1 X 28587399 29956723 N . N Y -0.626300493 15.98657174 0.996893678 7.6 DM Mental retardation, X-linked 21/34, 300143 (3) IL1RAPL2 X 104566315 105767829 N . N N 0.26862913 68.62881287 0.973379476 12.6 . . IL1RL1 2 102311502 102352037 N . N Y 1.093490704 93.88203971 1.28E-07 85.9 . . IL1RL2 2 102186973 102240002 N . N Y 0.409575464 76.31533252 1.97E-07 85.2 . . IL1RN 2 113107214 113134016 N . N Y -0.341181678 27.18643283 0.340218949 34.5 DM {Gastric cancer risk after H. pylori infection}, 137215 (3); {Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3) IL2 4 122451470 122456725 N . N Y -0.051433536 45.65607455 0.784777637 22.2 DFP Severe combined immunodeficiency due to IL2 deficiency (1) IL20 1 206865354 206869223 N . N N 0.565887443 82.91948834 0.002539178 61.1 DP . IL20RA 6 136999971 137045180 N Viable N Y 0.418840633 76.77837588 0.007575317 56.2 DP . IL20RB 3 136946230 137011085 N . N Y -0.073790488 44.15118365 0.000354183 68.1 DM? . IL21 4 122612628 122621069 N . N Y 0.001088113 49.55142675 0.50219058 29.9 DFP . IL21R 16 27402162 27452042 N . N Y -0.057675878 45.29142791 0.846367844 20 DM [IgE, elevated level of], 147050 (3); Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 (3) IL22 12 68248242 68253607 N . N Y 0.322915185 71.92799676 0.490718396 30.2 DP . IL22RA1 1 24119771 24143121 N . N Y 0.062523198 54.31498524 0.064400851 45.6 . . IL22RA2 6 137143820 137173648 N . N Y 0.449660369 78.35272327 1.21E-09 91 . . IL23A 12 56334174 56340410 N . N Y -0.269022695 31.31330671 0.842438306 20.2 . . IL23R 1 67166400 67259979 N . N Y 0.094297141 56.72281067 0.006495296 56.9 DFP {Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3) IL24 1 206897443 206904139 N Viable N Y -0.001630854 49.29675291 0.002715888 60.8 . . IL25 14 23372809 23376403 N . N Y 0.431784952 77.48451699 3.63E-06 80.2 . . IL26 12 68201351 68225821 N . N N 0.094952155 56.76911501 0.052761762 46.7 . . IL27 16 28499362 28512051 N . N Y 0.080902701 55.81408809 0.927792678 16.2 . . IL27RA 19 14031748 14053216 N . N Y -0.333373338 27.57423164 8.97E-07 82.7 . . IL2RA 10 6010689 6062325 N . N Y -0.013766433 48.44591075 0.88128872 18.6 DM Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3); {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) IL2RB 22 37125838 37175054 N . N Y 0.118719679 58.66180471 0.986756576 10.7 FTV . IL2RG X 71107404 71112108 N . N Y 0.368890551 74.33003415 0.957764471 14.1 DM Severe combined immunodeficiency, X-linked, 300400 (3); Combined immunodeficiency, X-linked, moderate, 312863 (3) IL3 5 132060529 132063204 N . N Y 0.399859596 75.829137 3.72E-09 89.9 DFP . IL31 12 122172030 122174199 N . N N -0.260562407 31.82844244 0.150887238 40.5 . . IL31RA 5 55851379 55922853 N Viable N Y -0.524628496 19.24523934 2.13E-15 97.1 DM Amyloidosis, primary localized cutaneous, 2, 613955 (3) IL32 16 3065297 3082192 N . N N 0.754573317 88.21554668 3.77E-07 84.2 . . IL33 9 6215786 6257983 N Viable N Y 0.00315321 49.71927997 1.05E-08 88.9 . . IL34 16 70579895 70660682 N . N Y 0.389635172 75.36030561 0.114215553 42.4 DM? . IL36A 2 113005461 113008044 N . N N 0.679394134 86.39231348 0.00012331 71.3 . . IL36B 2 113022091 113052867 N . N N 0.454294559 78.50321236 0.003517297 59.7 . . IL36G 2 112973203 112985665 N . N N 0.285399426 69.6822365 2.50E-05 75.7 . . IL36RN 2 113058638 113065382 N . N Y 0.604360167 84.27967818 0.00097234 64.8 DM Psoriasis 14, pustular, 614204 (3) IL37 2 112912971 112918882 N . N N 0.714187722 87.25473172 0.007836058 56.1 . . IL3RA X 1336616 1382689 N . N N 0.397440353 75.71337616 1.10E-12 95.2 . . IL4 5 132673986 132682676 N . N Y 0.094952155 56.76911501 0.168021415 39.8 DFP . IL4I1 19 49889654 49929539 N . N Y -0.157128223 38.22422874 0.262058045 36.7 . . IL4R 16 27313668 27364778 N . N Y 0.231570067 66.31359611 0.031743833 49.4 DFP {Atopy, susceptibility to}, 147050 (3); {AIDS, slow progression to}, 609423 (3) IL5 5 132541444 132556838 N . N Y 0.154976897 61.35903224 0.028374415 50 DP . IL5RA 3 3066326 3126613 N . N Y 0.159910445 61.75261909 0.000332265 68.4 . . IL6 7 22725884 22732002 N . N Y -0.130139339 40.0821902 0.289669117 36 DFP {Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Kaposi sarcoma, susceptibility to}, 148000 (3); {Diabetes, susceptibility to}, 222100, 125853 (3); {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3); {Crohn disease-associated growth failure}, 266600 (3) IL6R 1 154405193 154469450 N Viable N Y -0.020161029 47.89604677 0.047869037 47.2 DFP [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3); [Interleukin 6, serum level of, QTL], 614752 (3) IL6ST 5 55935095 55994993 Y Viable N Y -0.250689729 32.4303988 0.997842778 7.1 . . IL7 8 78675743 78805523 N . N Y 0.23846774 66.7534873 0.879873742 18.6 FP . IL7R 5 35852695 35879603 N . N Y 1.071783895 93.66209411 3.72E-06 80.1 DM Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) IL9 5 135892246 135895827 N . N Y 0.632461877 85.11894426 0.00054088 66.8 DFP . IL9R X 155997581 156010817 N . N Y 0.938787742 91.850437 1.92E-06 81.4 FTV . ILDR1 3 121987323 122022204 N . N Y 0.621577198 84.79481391 7.94E-07 83 DM Deafness, autosomal recessive 42, 609646 (3) ILDR2 1 166895711 166975482 N . N N 0.030446167 51.85506743 0.398939847 32.8 . . ILKAP 2 238170401 238203729 N . N N -0.384285668 25.21271054 0.992507797 9.3 . . ILVBL 19 15114984 15125785 N . N N 0.116957788 58.52289171 1.14E-05 77.7 . . IMMP1L 11 31432401 31509645 N . N N -0.071071979 44.35376512 0.020713165 51.5 . . IMMP2L 7 110663051 111562517 N . N N -0.055108985 45.45349308 0.040760918 48.2 DM . IMMT 2 86143932 86195770 N . N N -0.491895074 20.51860855 0.000945647 64.9 DM? . IMP3 15 75639085 75648706 N . N N 0.038754674 52.485964 5.33E-05 73.7 . . IMP4 2 130342225 130347810 N . N N -0.103802501 41.88805927 0.000968218 64.8 . . IMPA2 18 11981025 12030883 N . N Y 0.069723511 54.87642531 0.237822649 37.4 DP . IMPACT 18 24426616 24453535 N . N N 0.617600446 84.70220524 3.32E-05 75 . . IMPDH1 7 128392277 128410252 N . N Y -0.429150862 23.17531979 0.005811859 57.4 DM Retinitis pigmentosa 10, 180105 (3); Leber congenital amaurosis 11, 613837 (3) IMPG1 6 75921115 76072678 N . N N 0.663078664 86.01609076 6.13E-13 95.5 . Macular dystrophy, vitelliform, 4, 616151 (3) IMPG2 3 101222546 101320560 N . N N -1.04032596 7.379753429 1.47E-08 88.5 DM Retinitis pigmentosa 56, 613581 (3); Macular dystrophy, vitelliform, 5, 616152 (3) INA 10 103277163 103290351 N . N Y 0.032208434 52.02870869 0.292917015 35.9 . . INADL 1 61742477 62163920 N . N N 1.251172472 95.43323494 6.18E-26 99.4 DP . INAFM1 19 47274453 47275707 N . N N . . . . . . INCA1 17 4988130 4997610 N . N Y 0.264802972 68.36835099 8.26E-09 89.2 . . INF2 14 104689606 104722535 N Viable N Y 0.598422958 84.05973259 0.999083288 5.8 DM Glomerulosclerosis, focal segmental, 5, 613237 (3); Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) ING1 13 110712736 110723339 N . N Y -0.322194338 28.12988366 0.011435702 54.3 . Squamous cell carcinoma, head and neck, somatic, 275355 (3) ING2 4 183504994 183511096 N . N Y -0.124550289 40.46420096 0.283379994 36.1 . . ING3 7 120950749 120977216 N . N N -0.64226435 15.61034902 0.993602955 9 . . ING4 12 6650280 6663148 N . N N -0.283071606 30.49140476 0.052101924 46.8 . . ING5 2 241702035 241729478 N . N N -0.358102358 26.39347109 0.445393628 31.6 . . INHA 2 219569162 219575713 N . N Y 0.179549296 63.17068936 0.199710682 38.8 DM . INHBC 12 57434760 57450828 N . N Y 0.374628926 74.65995254 0.083686117 44.2 . . INHBE 12 57452323 57459280 N . N Y -0.010895966 48.63112809 7.68E-06 78.7 . . INIP 9 112683926 112718236 N . N N 0.091125502 56.52022921 0.017451553 52.3 . . INMT 7 30697985 30757602 N . N N 1.058541661 93.47108873 0.000120278 71.3 FP . INMT-FAM188B 7 30752137 30892081 N . N N . . . . . . INO80B-WBP1 2 74455088 74460884 N . N N . . . . . . INO80C 18 35452230 35497991 N . N N 0.022791848 51.2704752 0.000502409 67 . . INO80D 2 205993721 206086303 N . N N -0.820127946 11.18249696 0.998179514 6.8 . . INO80E 16 29995294 30005793 N . N N 0.36138737 73.96538751 0.017414685 52.3 . . INPP1 2 190343470 190371665 N Viable N Y -0.383328502 25.24743879 0.000237352 69.2 . . INPP4B 4 142023160 142847432 N . N Y -0.978659686 8.259535799 0.99861101 6.4 . . INPP5B 1 37860697 37947057 N . N Y -0.802252896 11.51241535 7.43E-09 89.3 . . INPP5D 2 233059967 233207903 N . N Y . . 0.167430841 39.8 . . INPP5F 10 119726097 119829278 N . N N 0.14344749 60.45030966 0.001468831 63.1 . . INPP5J 22 31122731 31134696 N . N N 0.059652711 54.08346356 6.43E-12 94.5 . . INSC 11 15112424 15247208 N . N N 1.390932169 96.34195752 1.34E-09 90.9 . . INSIG1 7 155297776 155310235 N . N Y 0.147473793 60.82653238 0.124543666 41.9 DFP . INSIG2 2 118088452 118110997 N . N N 0.011461629 50.36754066 0.023277147 50.9 DFP . INS-IGF2 11 2132538 2161209 N . N N 0.337921524 72.70938242 0.036441413 48.7 . . INSL3 19 17816512 17821574 N . N Y . . 0.034126507 49 DM Cryptorchidism, 219050 (3) INSL4 9 5231419 5235304 N . N N 0.415822269 76.63946287 2.06E-05 76.1 . . INSL5 1 66797741 66801256 N . N Y 0.663431417 86.02766684 1.52E-05 77 . . INSL6 9 5131979 5185668 N . N Y 0.430020338 77.42084853 4.57E-05 74.1 DM? . INSM2 14 35534042 35537054 N . N N 0.152407451 61.18539098 . . . . INSRR 1 156840063 156859018 N . N Y -0.603876577 16.61746831 4.92E-07 83.8 . . INTS10 8 19817140 19852083 N . N N -0.901857354 9.544481102 0.984216595 11.1 . . INTS3 1 153728067 153774808 N . N N -1.810020592 2.182091798 0.999997023 2.1 . . INTS4 11 77878720 77994678 N . N N -1.139107606 6.158476587 0.653071264 25.9 . . INTS5 11 62646848 62653302 N . N N -1.890534102 1.910053829 0.999284368 5.6 . . INTS7 1 211940399 212035542 N . N N -1.200095311 5.585460439 0.860980155 19.5 . . INTS8 8 94813311 94881746 N . N N -1.148523552 6.094808126 0.989948635 10 . . INTS9 8 28767661 28890242 N . N N -1.47694018 3.478613185 2.00E-06 81.3 . . IP6K1 3 49724294 49786542 N . N Y -0.298880801 29.53637784 0.235179981 37.5 . . IP6K2 3 48688003 48740353 N . N Y -0.533390518 18.85165249 0.989457703 10.1 . . IP6K3 6 33721667 33746985 N . N N 1.322283531 95.9252185 0.048533853 47.2 . . IPCEF1 6 154154496 154356792 N . N N -0.222893607 34.16102333 0.39994059 32.8 . . IPO11 5 62403972 62628582 N . N N -1.335169968 4.451004225 0.996456955 7.8 . . IPO13 1 43946939 43968022 N . N N -0.923411499 9.168258378 0.972444338 12.8 . . IPO4 14 24180219 24188964 N . N N -0.654766065 15.21676217 3.22E-06 80.4 . . IPO5 13 97953658 98024297 N . N N -1.371736065 4.138449962 0.999998737 1.8 . . IPO7 11 9384622 9448126 N . N N -1.363418664 4.213694507 0.999998375 1.9 . . IPO8 12 30628988 30695986 N . N N -0.940185321 8.855704115 0.979783803 11.8 . . IPP 1 45694324 45750650 N Viable N Y -0.403771142 24.18822712 0.00253171 61.1 . . IQCA1 2 236324147 236507542 N . N N 0.709856007 87.1273948 0.001381171 63.5 . . IQCA1L 7 151190873 151205496 N . N N . . . . . . IQCB1 3 121769763 121835079 N . N N 0.193749521 64.05047173 1.20E-07 85.9 DM Senior-Loken syndrome 5, 609254 (3) IQCC 1 32205661 32208687 N . N N 0.406704787 7.62E+01 2.26E-07 85 . . IQCD 12 113195441 113221094 N . N N 0.057587761 53.92139839 7.66E-06 78.7 . . IQCE 7 2558972 2614734 N Viable N Y 0.91739686 91.45685015 1.34E-25 99.4 DM? . IQCF1 3 51894876 51903335 N . N N 0.68226197 86.49071019 0.0468541 47.4 . . IQCF2 3 51861629 51863424 N . N N 0.443922687 78.05174509 0.000296978 68.7 . . IQCF3 3 51817604 51830856 N . N N 0.694401032 86.77432425 0.127529597 41.7 . . IQCF5 3 51873721 51875584 N . N N . . 0.433199986 31.9 . . IQCF6 3 51778561 51779187 N . N N . . . . . . IQCG 3 197889075 197960142 N . N Y 0.68991226 86.66435145 3.61E-15 96.9 . . IQCH 15 67254800 67502260 N . N N -0.834992399 10.88151878 2.69E-12 94.9 . . IQCJ 3 158962928 159266307 N . N N 0.337921524 72.70938242 0.098429365 43.2 . . IQCJ-SCHIP1 3 158962235 159897366 N . N N -0.058784478 45.21039532 0.66050206 25.7 . . IQCK 16 19716456 19858467 N . N N 0.35116309 73.45025178 0.053932626 46.5 . . IQGAP1 15 90388218 90502243 N . N Y -1.985982759 1.684320194 0.999976585 2.9 DP . IQGAP2 5 76403249 76708132 N Viable N Y -0.481905319 20.90061932 4.10E-15 96.9 FTV . IQGAP3 1 156525405 156572604 N . N N 0.500581919 80.46535857 6.47E-16 97.4 DM? . IQSEC1 3 12897220 13073117 N . N N -1.376243171 4.092145627 0.998506227 6.5 . . IQSEC2 X 53232876 53321324 N . N N -0.357948071 26.40504717 0.975390479 12.4 DM Mental retardation, X-linked 1, 309530 (3) IQSEC3 12 66765 178460 N Viable N Y -0.331310888 27.67262835 0.925104239 16.4 . . IQUB 7 123452400 123535077 N Viable N Y -0.569647938 17.64773977 3.24E-13 95.7 . . IRAK1 X 154010500 154019980 N . N Y 1.000424379 92.76494762 0.994301924 8.7 DFP . IRAK1BP1 6 78867472 78946440 N . N N 0.373672448 74.62522429 0.000864774 65.2 . . IRAK2 3 10164865 10243743 N Viable N Y 1.210835784 95.13225676 2.90E-08 87.7 . . IRAK3 12 66188879 66254622 N . N Y 0.999617879 92.75915958 3.58E-15 97 DM {Asthma susceptibility 5}, 611064 (3) IRAK4 12 43758944 43789543 N . N Y -0.212519778 34.79191989 0.000576872 66.6 DM IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3) IREB2 15 78437431 78501456 N . N Y -0.525584879 19.16999479 0.99999973 1.3 . . IRF1 5 132481609 132490798 N . N Y -0.440636427 22.72385252 0.867788618 19.2 FP Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia, acute (3); Gastric cancer, somatic, 613659 (3); Nonsmall cell lung cancer, somatic, 211980 (3) IRF2 4 184387713 184474580 N . N Y -0.210758594 34.87295248 0.382047181 33.3 DP . IRF2BP1 19 45883607 45886170 N . N N -0.835435412 10.86415466 0.974430422 12.5 . . IRF2BP2 1 234604269 234609525 N . N N -0.531476218 18.93268507 0.470291319 30.8 . . IRF2BPL 14 77024543 77028699 N . N N -0.984396794 8.143774961 0.968935346 13.1 . . IRF3 19 49659569 49665875 N . N Y 0.499461757 80.4422064 0.003217418 60 . {?Herpes simplex encephalitis, susceptibility to, 7}, 616532 (3) IRF4 6 391739 411447 N . N Y -0.641306922 15.65086531 0.92222069 16.6 DM? [Skin/hair/eye pigmentation, variation in, 8], 611724 (3) IRF5 7 128937612 128950035 N . N Y -0.273500756 31.08178503 0.288476016 36 DFP {Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) IRF7 11 612553 615999 N . N Y -0.009787637 48.71216068 3.31E-07 84.4 DFP ?Immunodeficiency 39, 616345 (3) IRF8 16 85898803 85922609 N Viable N Y 0.813792502 89.39630723 0.926540238 16.3 DM Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3); Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 614894 (3) IRF9 14 24161053 24166565 N . N Y -0.389874437 24.9580367 0.631965598 26.6 . . IRG1 13 76948497 76958642 N . N N . . . . . . IRGC 19 43716010 43720021 N . N N -0.083860557 43.30034149 0.043735507 47.7 . . IRGM 5 150846523 150900736 N . N Y . . . . DFP {Mycobacterium tuberculosis, protection against}, 607948 (3); Inflammatory bowel disease 19, 612278 (3) IRGQ 19 43584369 43596135 N . N N -0.413187838 23.76570006 0.001197228 64 . . IRS2 13 109752698 109786568 N . N Y . . . . DM? {Diabetes mellitus, noninsulin-dependent}, 125853 (3) IRS4 X 108732482 108736409 N . N Y -0.027361277 47.46194362 0.609434374 27.2 DM? . IRX1 5 3596054 3601403 N . N N -0.281003772 30.58401343 0.002310654 61.4 . . IRX2 5 2745845 2751662 N . N Y -0.508966819 19.83561961 0.648697597 26.1 . . IRX3 16 54283304 54286763 N . N Y 0.031251654 51.92452393 . . . . IRX4 5 1877413 1887236 N . N Y . . 0.253769011 37 DM? . IRX5 16 54930862 54934485 N . N Y -0.746352589 12.73369219 . . DM Hamamy syndrome, 611174 (3) IRX6 16 55323760 55330760 N . N Y 0.371103225 74.46315911 2.82E-08 87.7 . . ISCA1 9 86264546 86282538 N . N N 0.045150018 52.96637148 0.778973883 22.3 . . ISCA2 14 74493720 74497106 N . N N -0.013918082 48.39381837 6.27E-05 73.3 . Multiple mitochondrial dysfunctions syndrome 4, 616370 (3) ISCU 12 108562582 108569384 N . N N -0.028924269 47.36354691 0.135947771 41.3 DM Myopathy with lactic acidosis, hereditary, 255125 (3) ISG15 1 1001138 1014541 N . N Y 0.39426906 75.53973491 0.009847813 55 DM Immunodeficiency 38, 616126 (3) ISG20 15 88636153 88656483 N . N N -0.181703531 36.63251722 0.006091387 57.1 . . ISG20L2 1 156721891 156728799 N . N N -0.088796495 42.91254269 0.821397244 20.9 . . ISLR 15 74173671 74176872 N . N N 0.048322504 53.28471378 0.000436482 67.5 . . ISM1 20 13221771 13300651 N . N N 0.302467839 70.66620362 0.05422219 46.5 . . ISM2 14 77474394 77498850 N . N N 1.326111482 95.96573479 1.26E-05 77.5 . . ISOC1 5 129094751 129114028 N . N N -0.567232387 17.72298431 0.005293034 57.9 . . ISOC2 19 55452985 55462343 N . N N 0.273262571 68.86033455 0.043319434 47.8 . . IST1 16 71845996 71931199 N . N N -0.189053899 36.22156624 0.023110672 50.9 . . ISX 22 35066136 35087387 N . N Y 1.283660986 95.69369682 0.000189151 70 . . ISY1 3 129127415 129161293 N . N N -0.313083888 28.69711177 0.998290706 6.7 . . ISY1-RAB43 3 129087575 129161036 N . N N -0.266151109 31.49273601 0.998894935 6 . . ISYNA1 19 18434388 18438301 N . N N -0.73214908 13.11570296 0.0026393 60.9 DP . ITCH 20 34363235 34511393 N . N N -1.32126329 4.55518898 0.999990177 2.5 DM Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) ITFG1 16 47154387 47464149 N . N N -0.25003479 32.45933901 0.962023993 13.8 . . ITFG2 12 2812622 2859791 N . N N -0.765990612 12.28222492 1.39E-06 82.1 . . ITFG3 16 234546 268971 N . N N 0.40031172 75.85228917 2.74E-05 75.4 . . ITGA1 5 52787896 52959210 N . N Y -0.832126352 10.9393992 0.002375685 61.3 . . ITGA10 1 145891208 145910189 N . N Y 0.072244512 55.05006656 8.55E-11 93 . . ITGA11 15 68296533 68432162 N . N Y 0.517964696 81.1599236 0.000116169 71.4 DP . ITGA2 5 52989326 53094779 N Viable N Y -0.625707325 16.00972391 9.23E-09 89 DM ?Glycoprotein Ia deficiency, 614200 (1) ITGA2B 17 44372180 44389505 N . N Y -1.354816673 4.259998842 4.07E-05 74.5 DM Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) ITGAD 16 31393312 31426505 N . N Y 1.460906828 96.76448457 6.33E-12 94.5 FTV . ITGAE 17 3714628 3801243 N Viable N Y 0.070483395 54.91115356 7.99E-13 95.3 DP . ITGAL 16 30472658 30523185 N . N Y -1.560174255 3.021357875 0.430339544 32 . . ITGAM 16 31259990 31332892 N . N Y -0.428706734 23.18110783 1.34E-08 88.6 DFP {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3) ITGAX 16 31355134 31382997 N . N Y -0.708110035 13.68871911 6.11E-05 73.3 . . ITGB1BP2 X 71301734 71305371 N . N Y 0.240380673 66.89818834 0.000383159 67.9 . . ITGB3BP 1 63440770 63593721 N . N N 0.063983137 54.4886265 1.47E-05 77.1 . . ITGB5 3 124761948 124901418 N . N Y 0.297183223 70.32470915 0.000480019 67.1 . . ITGB6 2 160099666 160271888 N . N Y 0.034576738 52.17340974 1.91E-15 97.1 . Amelogenesis imperfecta, type IH, 616221 (3) ITGB7 12 53191318 53207307 N . N Y -1.246075562 5.145569254 0.002654239 60.9 . . ITGBL1 13 101452593 101720856 N . N N -0.530519144 18.97898941 0.170877824 39.7 . . ITIH1 3 52777592 52792068 N . N N 0.638813246 85.31573769 4.79E-18 98.2 FP . ITIH2 10 7703269 7749520 N . N N -0.042216466 46.40273196 7.07E-10 91.4 . . ITIH3 3 52794768 52809009 N . N N 0.968004654 92.28454014 6.67E-12 94.4 DP . ITIH4 3 52812975 52831479 N . N Y 0.908934892 91.26005672 4.63E-05 74.1 DP {Hypercholesterolemia, susceptibility to}, 143890 (3) ITIH5 10 7559270 7666998 N . N N . . 5.64E-13 95.5 . . ITIH6 X 54748899 54798240 N . N N 2.327856338 99.01603288 9.89E-11 92.9 DM? . ITK 5 157142933 157255191 N . N Y -0.927237968 9.104589917 1.50E-05 77.1 DM Lymphoproliferative syndrome 1, 613011 (3) ITLN1 1 160876539 160885170 N . N Y 0.173002985 62.75973838 0.004891194 58.2 . . ITLN2 1 160945025 160954799 N . N N 0.733019432 87.65410662 1.15E-05 77.7 . . ITM2A X 79360384 79367667 N . N Y 0.209411733 65.03443885 0.842718352 20.2 . . ITM2B 13 48233158 48270357 N . N Y -0.08703502 43.03409157 0.715126636 24.2 DM Dementia, familial British, 176500 (3); Dementia, familial Danish, 117300 (3); ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3) ITPKA 15 41493393 41503551 N . N Y -0.129182361 40.14585866 0.821022369 21 . . ITPKB 1 226631690 226739323 N . N Y 0.259822834 68.02106847 0.998850076 6.1 . . ITPKC 19 40717103 40740860 N . N Y 0.21817215 65.5669387 0.164215304 40 DP {Kawasaki disease, susceptibility to}, 611775 (3) ITPR2 12 26336515 26833198 N . N Y -2.963895081 0.619320484 5.74E-11 93.3 . ?Anhidrosis, isolated, with normal sweat glands, 106190 (3) ITPR3 6 33620365 33696574 N . N Y -3.57163418 0.358858598 4.98E-12 94.7 DP {Diabetes, type 1, susceptibility to}, 222100 (2) ITPRIP 10 104309698 104338404 N . N Y -0.556554166 18.01817445 1.35E-05 77.3 . . ITPRIPL1 2 96325331 96330517 N . N N 0.346680316 73.22451815 1.11E-07 86 . . ITPRIPL2 16 19113932 19121629 N . N N 0.259363026 68.00949239 0.018503394 52.1 . . ITSN2 2 24202864 24360714 N Viable N Y -0.612202673 16.42646293 0.024433691 50.6 DM? . IVL 1 152908545 152911886 N Viable N Y . . 3.43E-09 90 . . IWS1 2 127436207 127526886 N . N N -0.645785708 15.51195231 0.98644488 10.7 . . IYD 6 150368892 150405969 N . N N 0.464666725 79.07044047 0.088309192 43.9 DM Thyroid dyshormonogenesis 4, 274800 (3) IZUMO1 19 48740852 48746909 N . N Y 0.040668219 52.64224113 0.002416263 61.2 . . IZUMO1R 11 94305593 94307721 N Viable N Y . . . . . . IZUMO2 19 50152548 50163195 N . N N 0.265759477 68.41465532 1.07E-05 77.9 . . IZUMO3 9 24542952 24545946 N . N N . . . . . . IZUMO4 19 2096429 2099593 N . N N 0.414057549 76.56421832 4.70E-08 87.1 . . JADE2 5 134524312 134583230 N . N N 0.247379597 67.29756323 . . . . JADE3 X 46912276 47061242 N . N N -0.318518891 28.37876946 . . . . JAGN1 3 9890554 9894349 N . N N 0.126877769 59.25218499 0.023062733 50.9 . Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3) JAK3 19 17824780 17848071 N . N Y -0.29011822 30.06308966 0.9958638 8 DM SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) JAKMIP1 4 6026199 6200591 N . N N -1.120420525 6.372634138 0.993166784 9.1 . . JAKMIP2 5 147585439 147782848 N . N N -0.92915172 9.05249754 0.999936528 3.4 . . JAKMIP3 10 132104671 132184809 N . N N -0.510578472 19.78352723 0.053931825 46.6 . . JAM2 21 25639272 25717562 N Viable N Y 0.218827885 65.61903108 0.148660697 40.7 . . JAZF1 7 27830573 28180743 N Viable N Y -0.041059779 46.53585692 0.958302382 14.1 . . JCHAIN 4 70655541 70681817 N . N Y . . . . . . JDP2 14 75427716 75474111 N . N Y -0.033556726 47.03941657 0.85610611 19.7 . . JKAMP 14 59484443 59505410 N . N N -0.342138919 27.14591654 0.059897686 46 . . JMJD1C 10 63167221 63521850 N . N Y -2.22506306 1.250217052 1 0.4 DM . JMJD4 1 227730425 227735411 N . N N 0.314754515 71.37813278 1.87E-07 85.3 . . JMJD7 15 41828085 41837581 N . N N 0.780909061 88.81750304 0.234310957 37.6 . . JMJD7-PLA2G4B 15 41828095 41848155 N . N N 0.980647789 92.51027377 9.16E-25 99.3 . . JMJD8 16 681671 684528 N . N N . . 3.80E-10 91.9 . . JMY 5 79236189 79327215 N . N N -0.197362146 35.68327835 0.999722637 4.6 . . JOSD1 22 38685543 38701556 N . N N -0.268065472 31.35961104 0.319904565 35.1 . . JOSD2 19 50505998 50511353 N . N N 0.049933723 53.40047462 0.428022034 32.1 . . JPH3 16 87601835 87698156 N . N Y 0.084227285 56.03982173 0.986177997 10.7 DM Huntington disease-like 2, 606438 (3) JPH4 14 23568035 23578800 N . N N . . 0.987347573 10.5 . . JRK 8 142657460 142681968 N . N N . . . . DM . JRKL 11 96389989 96507574 N . N N -0.384285668 25.21271054 0.000583511 66.6 . . JSRP1 19 2252252 2269759 N . N Y 0.284591847 69.63014412 8.90E-10 91.2 FP . JTB 1 153974269 153977688 N . N N 0.063983137 54.4886265 0.645223905 26.2 . . JUNB 19 12791496 12793315 N . N N . . 0.585014693 27.8 . . JUND 19 18279760 18281622 N . N Y . . 0.560887374 28.4 . . KAAG1 6 24356903 24358284 N . N N 0.372568852 74.5441917 0.019191239 51.9 . . KANK1 9 470291 746106 N . N N -0.408236857 24.02037391 . . DM Cerebral palsy, spastic quadriplegic, 2, 612900 (3) KANK2 19 11164267 11197791 N . N N 0.40158319 75.89280546 0.981511999 11.5 . Palmoplantar keratoderma and woolly hair, 616099 (3) KANK3 19 8322584 8343262 N . N N . . 8.53E-06 78.5 . . KANK4 1 62236979 62319414 N . N N 0.890258742 90.93592638 5.40E-08 86.9 . . KANSL1 17 46029916 46225374 N . N Y 0.393122134 75.50500666 0.999733506 4.5 DM Koolen-De Vries syndrome, 610443 (3) KANSL1L 2 210021423 210171383 N . N N -0.11739796 40.93303236 0.476930027 30.6 . . KANSL2 12 48653401 48682238 N . N N -0.247316664 32.6098281 0.404028497 32.6 DM? . KANSL3 2 96593170 96642787 N . N N -0.522058982 19.35521213 0.994530637 8.6 . . KAT2B 3 20040023 20154404 N . N Y -0.122332238 40.60890201 0.998926901 6 . . KATNA1 6 149594873 149648972 N . N N -0.789457867 11.75551311 0.001925875 62 . . KATNAL1 13 30202630 30307484 N . N N -0.43393578 23.0248307 0.946326583 15.1 . . KATNAL2 18 46917492 47102243 N . N N 0.35226973 73.53707241 0.000125862 71.2 DM? . KATNBL1 15 34140674 34210096 N . N N -0.054152096 45.51716154 0.014154739 53.5 . . KAZALD1 10 101061841 101068131 N . N N 0.266716005 68.46095966 0.000335811 68.4 . . KAZN 1 14598704 15118043 N . N Y 0.076572313 55.40892516 0.144589791 40.8 . . KBTBD11 8 1973878 2006936 N . N N . . 0.273543145 36.4 . . KBTBD12 3 127915232 127987671 N . N N 0.287612942 69.74590496 9.96E-13 95.3 . . KBTBD13 15 65076816 65078192 N . N N . . 3.34E-05 75 DM Nemaline myopathy 6, autosomal dominant, 609273 (3) KBTBD2 7 32868172 32894131 N . N N -0.962994377 8.508421601 0.991275949 9.7 . . KBTBD3 11 106051098 106077765 N . N N -0.740609356 12.8726052 2.60E-05 75.6 . . KBTBD4 11 47572197 47579015 N . N N -0.643066859 15.59298489 0.018074364 52.2 . . KBTBD6 13 41127569 41132746 N . N N -0.747155718 12.69896394 0.93481936 15.8 . . KBTBD7 13 41189833 41194566 N . N N -1.162722796 5.973259246 0.223860925 37.9 . . KBTBD8 3 66998307 67011210 N . N N -0.93761225 8.902008451 0.00167057 62.6 . . KCNA1 12 4909905 4931361 Y Viable N Y -0.821386015 11.14198067 0.051801456 46.8 DM Episodic ataxia/myokymia syndrome, 160120 (3) KCNA10 1 110517251 110518838 N . N Y 0.735083071 87.7351392 0.003059489 60.3 . . KCNA3 1 110672465 110675033 N . N Y -0.404880574 24.14192279 . . DP . KCNA4 11 30009741 30017023 N . N Y -1.057669987 7.113503502 0.946234021 15.2 . . KCNA5 12 5043989 5046788 N . N Y -0.459969298 21.90773861 0.000687392 66 DM Atrial fibrillation, familial, 7, 612240 (3) KCNA6 12 4809176 4813412 N . N Y -0.917973275 9.260867049 0.961132595 13.8 . . KCNA7 19 49067418 49072941 N . N N -0.635563637 15.77820223 0.008250223 55.7 . . KCNAB1 3 156037701 156539138 N . N Y -0.103650534 41.89963535 0.066550343 45.4 . . KCNAB2 1 5991466 6101193 N . N Y -0.257690928 32.05996411 0.839972632 20.3 DM . KCNAB3 17 7921859 7929803 N Viable N Y -0.29042075 30.03993749 6.03E-12 94.5 . . KCNB1 20 49363877 49482647 N Viable N Y -0.42723718 23.22162412 0.98258787 11.3 . Epileptic encephalopathy, early infantile, 26, 616056 (3) KCNB2 8 72537391 72938349 N . N Y -1.132559664 6.22793309 0.954615847 14.3 DM? . KCNC1 11 17734812 17783055 N . N N -0.687283786 14.28488742 0.709972136 24.4 . Epilepsy, progressive myoclonic 7, 616187 (3) KCNC2 12 75040077 75209868 N Viable N Y -0.14962524 38.77409272 0.003596818 59.6 . . KCNC3 19 50311937 50333515 N . N Y -1.024937791 7.536030561 0.850943335 19.9 DM Spinocerebellar ataxia 13, 605259 (3) KCNC4 1 110211343 110283100 N . N N 0.039057439 52.49754008 0.000534225 66.9 . . KCND1 X 48961378 48971569 N . N N -0.076509147 43.9370261 0.447025941 31.5 . . KCND2 7 120273668 120750331 N . N Y -0.697503755 14.01863749 0.980460832 11.7 DM . KCND3 1 111770662 111989155 N . N N -0.741566385 12.83787695 0.803752595 21.5 DM Spinocerebellar ataxia 19, 607346 (3); Brugada syndrome 9, 616399 (3) KCNE1 21 34446688 34512275 N . N Y 0.38485322 75.1519361 0.004186135 58.9 DM Jervell and Lange-Nielsen syndrome 2, 612347 (3); Long QT syndrome 5, 613695 (3) KCNE2 21 34364024 34371389 N . N Y 0.276939876 69.10922035 0.001018406 64.7 DM Long QT syndrome 6, 613693 (3); Atrial fibrillation, familial, 4, 611493 (3) KCNE3 11 74454841 74467729 N . N Y 0.04051715 52.61908896 0.444435272 31.6 DM Brugada syndrome 6, 613119 (3) KCNE4 2 223051814 223198399 N . N N -0.078575026 43.76338485 0.560426843 28.4 DM? . KCNE5 X 109623700 109625172 N . N N . . . . . . KCNF1 2 10911937 10914225 N . N N -0.858903013 10.38953522 0.49836903 30 . . KCNG1 20 51003656 51023129 N . N N -0.753855899 12.49059443 0.274579646 36.4 . . KCNG2 18 79863668 79900184 N . N N -0.260408668 31.84580656 0.00583162 57.4 . . KCNG3 2 42442017 42494097 N . N N -0.651682625 15.33831105 0.04059744 48.2 . . KCNG4 16 84218667 84239750 N . N N 0.905101911 91.16166001 3.97E-17 97.8 . . KCNH1 1 210678315 211134115 N . N Y -1.768671446 2.286276553 0.33301456 34.8 . Temple-Baraitser syndrome, 611816 (3); Zimmermann-Laband syndrome 1, 135500 (3) KCNH3 12 49539157 49558308 N Viable N Y -1.043326658 7.32187301 0.999889995 3.8 . . KCNH4 17 42156891 42181278 N Viable N Y -1.574360157 2.934537246 0.999978751 2.8 . . KCNH5 14 62699454 63102037 N . N Y -1.464655946 3.548069688 0.769049292 22.6 . . KCNH6 17 63523334 63548977 N Viable N Y 0.580866935 83.49829253 3.94E-17 97.9 DM? . KCNH7 2 162371407 162838730 N . N N -1.540522108 3.137118713 0.984445949 11 . . KCNH8 3 19148454 19535646 N . N N -0.500060532 20.17711408 0.000102484 71.8 . . KCNIP1 5 170353487 170736632 N . N N -0.023183121 47.73398159 0.020231957 51.6 . . KCNIP2 10 101825974 101843920 N . N Y 0.151300234 61.07541819 0.018688178 52 . . KCNIP3 2 95297304 95386083 N . N Y 0.123201392 58.99751114 0.852600761 19.8 . . KCNIP4 4 20728616 21948799 N . N Y -0.448139541 22.37657001 0.967714667 13.3 DM? . KCNJ11 11 17385859 17389331 N . N Y -0.252905653 32.27412166 0.31472413 35.3 DM Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Diabetes, permanent neonatal, 606176 (3); Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3); {Diabetes mellitus, type 2, susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3); Maturity-onset diabetes of the young, type 13, 616329 (3) KCNJ12 17 21376197 21419872 N . N Y 5.775631456 99.87266308 1.43E-05 77.2 . . KCNJ13 2 232766464 232776568 N . N N -0.159194457 38.09110378 0.758052442 22.9 DM Snowflake vitreoretinal degeneration, 193230 (3); Leber congenital amaurosis 16, 614186 (3) KCNJ14 19 48455509 48466980 N Viable N Y -0.056870751 45.35509637 8.51E-05 72.4 . . KCNJ15 21 38157034 38307357 N . N Y -0.049367758 45.85286797 0.150462039 40.6 DFP . KCNJ16 17 70053429 70135608 N . N Y 0.471362413 79.35984257 5.42E-06 79.4 . . KCNJ18 17 21692523 21704612 N . N N . . . . DM {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3) KCNJ3 2 154698299 154858352 N Viable N Y -0.340224471 27.22116108 0.989708243 10 DP . KCNJ4 22 38426327 38455199 N . N N -1.124400756 6.343693928 0.825953321 20.8 . . KCNJ5 11 128891356 128921035 N . N Y -0.842938812 10.72524165 0.309232169 35.5 DM Long QT syndrome 13, 613485 (3); Hyperaldosteronism, familial, type III, 613677 (3) KCNJ8 12 21764955 21775581 N . N Y -0.417169759 23.60942293 0.256769968 36.9 DM . KCNJ9 1 160081570 160090563 N Viable N Y 0.093995484 56.69387046 0.583029242 27.9 DP . KCNK1 1 233614004 233672512 N . N Y -0.238856623 33.14811599 0.580150979 28 . . KCNK10 14 88180103 88326907 N . N N -1.259317288 5.064536667 0.007579692 56.2 . . KCNK12 2 47516581 47570939 N . N N . . 0.671633264 25.5 . . KCNK13 14 90061765 90185857 N . N N 0.594134289 83.9497598 0.25800786 36.8 . . KCNK15 20 44745780 44752313 N . N N 0.213237933 65.26017248 0.106847942 42.8 . . KCNK16 6 39314698 39322968 N . N N 0.566990485 82.96000463 0.011361865 54.4 . . KCNK17 6 39299001 39314553 N . N N 0.525648717 81.46090178 3.39E-06 80.3 . . KCNK18 10 117197489 117210299 N Viable N Y 0.075464048 55.32789257 0.000349561 68.2 DM {Migraine, with or without aura, susceptibility to, 13}, 613656 (3) KCNK2 1 215005775 215237093 N . N Y -0.292334822 29.87208427 0.339842885 34.5 . . KCNK3 2 26692690 26733420 N . N Y -0.018550615 48.01759565 . . DM Pulmonary hypertension, primary, 4, 615344 (3) KCNK4 11 64291302 64300031 N . N N -0.079379727 43.6881403 0.0424812 48 . . KCNK6 19 38319844 38332076 N . N Y 0.718012692 87.37049256 0.199609234 38.8 FP . KCNK7 11 65592855 65595996 N . N Y -0.160955729 37.95219077 6.43E-06 79.1 . . KCNK9 8 139600838 139703056 N . N Y -0.846768806 10.63263298 0.126993746 41.7 DM Birk-Barel mental retardation dysmorphism syndrome, 612292 (3) KCNMA1 10 76869601 77638595 N . N Y -1.965723023 1.736412572 0.999216603 5.6 DM Generalized epilepsy and paroxysmal dyskinesia, 609446 (3) KCNMB1 5 170374671 170389677 N . N Y 0.523736129 81.40302136 2.07E-05 76.1 DFP {Hypertension, diastolic, resistance to}, 608622 (3) KCNMB2 3 178272932 178844429 N . N N -0.17611458 36.99137582 0.65245963 26 . . KCNMB3 3 179236691 179267002 N . N N 0.463710367 79.01834809 2.58E-08 87.9 DFP . KCNMB4 12 70366276 70434292 N . N Y -0.049519725 45.82392777 0.829402296 20.7 . . KCNN1 19 17951293 18000080 N . N N . . 0.931699633 16 . . KCNN3 1 154697455 154870280 N . N Y -0.860663415 10.36638305 0.864940881 19.3 DM? . KCNN4 19 43766533 43781257 N . N Y -0.69095767 14.20964288 8.36E-06 78.5 . . KCNQ1 11 2444684 2849109 N . N Y -0.926281221 9.127742085 2.45E-05 75.7 DM Long QT syndrome 1, 192500 (3); Jervell and Lange-Nielsen syndrome, 220400 (3); Atrial fibrillation, familial, 3, 607554 (3); Short QT syndrome 2, 609621 (3); {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) KCNQ4 1 40784012 40840452 N . N Y 0.080247996 55.73305551 0.985178282 10.9 DM Deafness, autosomal dominant 2A, 600101 (3) KCNRG 13 50015254 50020922 N . N N 0.084729555 56.09191411 0.000520289 67 . . KCNS1 20 45092310 45101112 N . N N -0.058784478 45.21039532 0.362998541 33.8 DM? . KCNS2 8 98427022 98432848 N . N Y -0.531476218 18.93268507 0.528896631 29.2 . . KCNS3 2 17877847 18361616 N . N N -0.135576128 39.70596747 0.016090126 52.8 DP . KCNT1 9 135702185 135795508 N . N N -1.793675731 2.21682005 0.005348738 57.8 DM Epileptic encephalopathy, early infantile, 14, 614959 (3); Epilepsy, nocturnal frontal lobe, 5, 615005 (3) KCNT2 1 196225779 196609225 N . N N -2.026724347 1.574347398 0.666802214 25.6 . . KCNU1 8 36784324 36936128 N . N Y -0.508377015 19.86455982 3.91E-12 94.7 . . KCNV1 8 109963645 109975847 N . N Y -0.417169759 23.60942293 0.778125704 22.3 . . KCNV2 9 2717502 2730037 N . N Y -0.17727383 36.89876715 6.27E-17 97.8 DM Retinal cone dystrophy 3B, 610356 (3) KCP 7 128862451 128910719 N . N Y . . . . . . KCTD1 18 26454910 26657401 N . N N -0.282114394 30.53770909 0.934855731 15.8 DM Scalp-ear-nipple syndrome, 181270 (3) KCTD11 17 7351889 7354944 N . N N 0.196318636 64.16623256 0.447451322 31.5 DP . KCTD12 13 76880166 76886390 N . N N 0.05935026 54.0603114 0.353531089 34.1 . . KCTD13 16 29905012 29927035 N . N N -0.506249788 19.96874457 0.791960934 21.9 DM . KCTD14 11 78015715 78080219 N . N N 1.20766407 95.09174046 0.002892993 60.5 . . KCTD16 5 144170832 144485686 N . N N -0.266954701 31.4637958 0.959972608 13.9 . . KCTD17 22 37051736 37063390 N . N N 0.210368257 65.09231927 0.051116993 46.9 . Dystonia 26, myoclonic, 616398 (3) KCTD18 2 200488952 200519784 N . N N 0.503288375 80.58111941 0.000526111 66.9 . . KCTD19 16 67289428 67326763 N . N N 0.404140759 76.01435434 3.34E-08 87.5 . . KCTD2 17 75032575 75065889 N . N N -0.283071606 30.49140476 0.061899988 45.8 . . KCTD20 6 36442767 36491143 N . N N -0.116894686 40.97933669 0.399321758 32.8 . . KCTD21 11 78171249 78188822 N . N N -0.082250388 43.42189037 0.291108596 35.9 . . KCTD3 1 215567392 215621807 N . N N -1.035158958 7.414481681 0.986866111 10.6 . . KCTD4 13 45192853 45194717 N . N N -0.410624002 23.91618915 0.040704502 48.2 . . KCTD5 16 2682475 2709030 N . N N -0.009133893 48.72373676 0.544871004 28.8 . . KCTD6 3 58492114 58502360 N . N N -0.277483031 30.77501881 0.206951627 38.5 . . KCTD7 7 66628881 66811187 N . N N -0.378697035 25.5252648 0.496529666 30.1 DM Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3) KCTD8 4 44173909 44448807 N . N N -0.555899965 18.03553858 0.291159282 35.9 . . KCTD9 8 25427847 25458476 N . N N -0.282114394 30.53770909 0.073396831 44.8 . . KDELC1 13 102784281 102799007 N . N N -0.512641945 19.71985877 6.42E-06 79.1 . . KDELC2 11 108472105 108498432 N . N N 0.013526612 50.54118192 1.57E-08 88.4 . . KDELR1 19 48382570 48391553 N . N N 0.109001675 57.91514731 0.895487512 17.9 . . KDELR2 7 6445953 6484242 N . N N -0.316758145 28.47137813 0.268728641 36.5 . . KDELR3 22 38468062 38483447 N . N N 0.349250172 73.35185507 2.26E-06 81.1 . . KDM1B 6 18155329 18223853 N . N Y -0.496678803 2.03E+01 0.815087937 21.1 . . KDM2A 11 67119269 67258087 N . N N -1.512550516 3.28181976 0.999999955 1 . . KDM3A 2 86440647 86492716 N . N Y -1.591979062 2.853504659 0.98175684 11.5 . . KDM3B 5 138352596 138437028 N . N N -1.988943098 1.672744111 0.999999999 0.6 . . KDM4A 1 43650158 43705515 N . N N -0.29011822 30.06308966 0.999993865 2.3 . . KDM4C 9 6757641 7175648 N . N Y -1.141569323 6.13532442 0.000758735 65.7 DP . KDM4D 11 94973681 94999518 N . N Y 0.121438731 58.82965793 0.149201647 40.6 . . KDM4E 11 95025258 95027596 N . N N . . 0.764772098 22.8 . . KDM5D Y 19703865 19744939 N . N N . . 0.015134044 53.1 . . KDSR 18 63327726 63367510 N . N N -0.589741923 17.07472362 0.472000395 30.8 . . KEL 7 142941114 142962681 N . N Y 0.752160326 88.14030214 2.01E-16 97.6 FP [Blood group, Kell], 110900 (3) KERA 12 91050491 91057983 N . N Y -0.191924635 36.05950107 0.00041437 67.6 DM Cornea plana congenita, recessive, 217300 (3) KHDC1 6 73241314 73310365 N . N N 0.454294559 78.50321236 6.80E-05 73 . . KHDC1L 6 73223544 73225770 N . N N 0.190579485 63.80158592 0.013352848 53.7 . . KHDC3L 6 73362677 73364171 N . N Y 0.204778284 64.66400417 0.241204609 37.3 DM Hydatidiform mole, recurrent, 2, 614293 (3) KHDRBS2 6 61679960 62286227 N . N Y -0.038994253 46.68055797 0.142878302 40.9 . . KHDRBS3 8 135457457 135656722 N Viable N Y -0.369279534 25.88991144 0.868289437 19.1 . . KHK 2 27086747 27100772 N . N N 0.523884453 81.41459744 5.36E-05 73.7 DM [Fructosuria], 229800 (3) KHNYN 14 24429286 24441834 N . N N -0.801442629 11.54135556 1.39E-05 77.2 . . KHSRP 19 6413348 6424794 N . N Y -0.980873791 8.219019506 0.999711222 4.6 . . KIAA0020 9 2720469 2844241 N . N N 1.547726072 97.23331597 1.66E-14 96.6 . . KIAA0040 1 175156987 175192999 N . N N . . . . . . KIAA0100 17 28614440 28645454 N . N N -2.275782148 1.180760549 0.265243746 36.6 DM? . KIAA0101 15 64364311 64387687 N . N Y 0.047063497 53.15737686 0.129504562 41.6 . . KIAA0141 5 141923808 141942047 N . N N 0.12063333 58.77177751 3.06E-10 92.1 . . KIAA0195 17 75441159 75500090 N . N Y -1.494295704 3.40336864 1.59E-07 85.5 . . KIAA0196 8 125024260 125091840 N . N N -2.1973317 1.279157261 4.81E-13 95.6 DM Spastic paraplegia 8, autosomal dominant, 603563 (3); Ritscher-Schinzel syndrome, 220210 (3) KIAA0226 3 197671393 197749727 N . N N -0.047956921 45.97441685 4.77E-06 79.6 DM ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3) KIAA0226L 13 46342000 46438190 N . N N 0.861683483 90.40342652 2.02E-11 93.9 . . KIAA0232 4 6781375 6884170 N . N N -1.465346464 3.542281646 0.994720896 8.5 DM? . KIAA0319 6 24544104 24646155 N . N N 0.398709818 75.7596805 7.96E-12 94.3 DFP {Dyslexia, susceptibility to, 2}, 600202 (3) KIAA0319L 1 35433490 35557950 N . N N -1.197228081 5.608612606 0.188543869 39 . . KIAA0355 19 34254537 34355586 N . N N -0.740171751 12.88418128 0.877125217 18.7 . . KIAA0368 9 111360692 111484745 N . N N -0.146965037 38.93036986 0.999999936 1 . . KIAA0391 14 35121846 35277614 N . N N -0.369126321 25.91885165 1.78E-05 76.6 . . KIAA0408 6 127440343 127459391 N . N N -0.322043675 28.14724779 1.96E-06 81.3 . . KIAA0430 16 15594386 15643166 N . N N -2.482421466 0.983967124 0.999999566 1.5 . . KIAA0513 16 85027751 85094230 N . N N -0.216195302 34.51409388 0.075830642 44.7 FP . KIAA0556 16 27550133 27780369 N . N N 0.264291444 68.35098686 1.31E-17 98 . . KIAA0825 5 94152966 94618604 N . N N 0.243250221 67.10655785 4.26E-07 84 . . KIAA0895 7 36324221 36390125 N . N N 0.211474757 65.18492794 0.00114572 64.2 . . KIAA0895L 16 67175602 67184040 N . N N 0.03507878 52.23129015 0.018433058 52.1 . . KIAA0907 1 155913043 155934400 N . N N -0.962037121 8.514209643 0.997113618 7.5 . . KIAA0922 4 153466346 153636711 N . N N -0.723940186 13.28934421 0.999390133 5.4 . . KIAA0930 22 45190338 45240769 N . N N -0.764076355 12.32852926 0.815289887 21.1 . . KIAA1024 15 79432516 79472290 N . N N 0.292707678 70.07582335 0.000865676 65.2 . . KIAA1024L 5 129748079 129766732 N Viable N Y . . . . . . KIAA1033 12 105107324 105169134 N . N N -0.092018727 42.68680905 0.155503529 40.3 DM ?Mental retardation, autosomal recessive 43, 615817 (3) KIAA1107 1 92167052 92184723 N . N N . . . . . . KIAA1109 4 122152333 122362758 N . N N -7.487976255 0.023152168 3.91E-08 87.3 . . KIAA1143 3 44737661 44761662 N . N Y 0.580894119 83.51565665 0.02510247 50.5 . . KIAA1147 7 141656728 141702153 N . N N -0.133814513 39.83909244 0.00204302 61.8 . . KIAA1161 9 34366670 34376853 N Viable N Y . . 5.13E-10 91.7 . . KIAA1191 5 176346061 176361968 N . N N 0.085686282 56.13821844 0.001560873 62.9 . . KIAA1210 X 119078635 119150579 N . N N 1.667187968 97.78896799 0.090793121 43.7 DM? . KIAA1211 4 56049073 56328625 N . N N 0.104171219 57.50998437 0.130364633 41.5 . . KIAA1211L 2 98793846 98936259 N Viable N Y -0.448789697 22.35341784 . . . . KIAA1217 10 23694746 24547848 N . N N -1.455437124 3.605950107 0.014167894 53.4 DM? . KIAA1257 3 128909866 129002690 N . N N 0.688955753 86.6296232 1.75E-08 88.3 . . KIAA1324L 7 86876906 87059699 N . N N 0.009045538 50.2344157 0.000166955 70.3 . . KIAA1328 18 36829106 37232172 N . N N 0.416927285 76.69155525 6.07E-05 73.4 . . KIAA1407 3 113964137 114056613 N . N N 1.859257012 98.32725589 3.29E-23 99.2 . . KIAA1456 8 12945642 13031503 N . N N 0.952837085 92.06459455 . . . . KIAA1462 10 30012800 30115494 N . N N 1.060490273 93.48845286 0.104293752 42.9 DM? . KIAA1467 12 13044284 13142521 N . N N -0.353969197 26.61341668 0.221017048 38 . . KIAA1468 18 62187258 62307829 N . N N -0.450553088 22.24344504 0.99999956 1.5 . . KIAA1522 1 32741885 32774970 N . N N -0.158441584 38.12004399 0.802365147 21.6 . . KIAA1524 3 108549869 108589644 N . N N 0.023246295 51.30520345 5.75E-08 86.8 . . KIAA1549 7 138831381 138981318 N Viable N Y 1.991949146 98.55877757 0.99864579 6.3 DM? . KIAA1549L 11 33542072 33674102 N . N Y -1.309199063 4.642009608 0.003708229 59.4 . . KIAA1551 12 31959370 31993107 N . N N 2.07427233 98.68611449 0.036491109 48.7 . . KIAA1586 6 57046532 57055239 N . N N -0.030382941 47.27093824 1.78E-06 81.5 DM? . KIAA1614 1 180913154 180951614 N . N N 0.913898289 91.32372518 2.19E-13 95.8 . . KIAA1644 22 44243667 44312851 N . N N -0.363690885 26.19088962 0.676861238 25.3 . . KIAA1671 22 24952730 25197448 N . N N . . . . . . KIAA1683 19 18257097 18274509 N . N N 2.768525459 99.35173931 8.28E-06 78.5 . . KIAA1755 20 38210488 38260772 N . N N 1.650443233 97.73687561 2.32E-15 97.1 FTV . KIAA1841 2 61065871 61138034 N . N N -0.203908406 35.22023499 3.33E-06 80.3 . . KIAA1875 8 144107726 144118315 N . N N . . . . . . KIAA1919 6 111259348 111271167 N . N N -0.368169446 25.94779186 4.16E-05 74.4 DM? . KIAA1958 9 112486847 112669397 N . N N -0.869930295 10.18695375 0.04900214 47.1 . . KIAA2012 2 202073255 202197862 N . N N . . . . . . KIAA2013 1 11919591 11926428 N . N N -0.317561949 28.41928576 . . . . KIAA2022 X 74732849 74925485 N . N N -0.846318438 10.64999711 0.950542379 14.7 DM Mental retardation, X-linked 98, 300912 (3) KIAA2026 9 5881596 6007901 N . N N . . . . . . KIF12 9 114086126 114099227 N . N N 0.086794166 56.20767494 1.78E-05 76.6 . . KIF13A 6 17759183 17987623 N . N Y -0.216409728 34.49094171 0.999958506 3.2 . . KIF13B 8 29067279 29263124 N . N Y -1.878991742 1.962146206 0.000199447 69.8 . . KIF15 3 44761717 44873376 N . N N 0.544145033 82.20755918 7.47E-13 95.4 . . KIF17 1 20664014 20718017 N . N Y 1.2760016 95.60108815 3.34E-13 95.7 DM . KIF18A 11 28020620 28108308 N . N Y -0.531175395 18.9500492 0.149441083 40.6 DP . KIF18B 17 44924709 44947711 N . N N 0.057890757 53.94455056 8.31E-05 72.4 . . KIF1C 17 4997948 5028401 N . N Y -0.89966024 9.590785437 0.470778561 30.8 . Spastic ataxia 2, autosomal recessive, 611302 (3) KIF21A 12 39293228 39443390 N . N N -1.284156203 4.815650865 6.18E-05 73.3 DM Fibrosis of extraocular muscles, congenital, 1, 135700 (3); Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) KIF21B 1 200969390 201023700 N . N Y -2.556559016 0.931874747 0.99941409 5.4 . . KIF23 15 69414246 69448427 N . N N -0.222590721 34.17838745 0.999999791 1.3 DM . KIF24 9 34252381 34329200 N Viable N Y 0.067765378 54.67963188 7.56E-14 96.2 . . KIF25 6 167996241 168045089 N . N N 1.069870684 93.62157782 3.75E-09 89.9 . . KIF27 9 83836698 83921465 N . N N 0.322878573 71.90484459 1.35E-09 90.9 . . KIF2B 17 53822901 53825213 N . N N 1.622771174 97.58638653 3.73E-15 96.9 . . KIF2C 1 44739818 44767767 N . N N -0.694482425 14.12861029 0.017194072 52.4 . . KIF3C 2 25926596 25982749 N . N Y -0.549050942 18.24390809 0.909864326 17.3 . . KIF4A X 70290090 70420832 N . N N 0.467686361 79.23250564 0.999968445 3 . ?Mental retardation, X-linked 100, 300923 (3) KIF4B 5 155013755 155018132 N . N N 0.645521627 85.51831915 3.11E-19 98.5 . . KIF5C 2 148875250 149026759 N . N Y . . 0.999515597 5.2 DM Cortical dysplasia, complex, with other brain malformations 2, 615282 (3) KIF6 6 39329990 39725405 N . N N 0.509184403 80.81842913 1.04E-16 97.7 DP . KIF9 3 47228026 47283451 N . N N 0.568252232 83.00630897 2.17E-11 93.8 . . KIFC1 6 33391536 33409924 N . N N -0.029426144 47.35197083 0.015578034 53 . . KIFC2 8 144466043 144474202 N . N N -0.139907192 39.41656538 0.001340579 63.6 . . KIFC3 16 57758217 57863053 N . N N -1.262039736 5.029808416 0.46789312 30.9 . . KIN 10 7750962 7787981 N . N N -0.261365676 31.77635006 0.003221987 60 . . KIR2DL1 19 54769811 54784322 N . N N 2.154531528 98.79029924 0.184502117 39.1 FP . KIR2DL3 19 54724459 54767884 N . N N 2.191105909 98.8539677 0.038026499 48.6 FTV . KIR2DL4 19 54803535 54814517 N . N N . . 0.875263421 18.9 FP . KIR3DL1 19 54724497 54867215 N . N N 2.399519659 99.08548938 9.78E-06 78.1 DP {AIDS, delayed/rapid progression to}, 609423 (3) KIR3DL2 19 54850443 54867207 N . N N . . 0.221236755 38 DP . KIR3DL3 19 54724479 54736536 N . N N . . 0.532094899 29.1 . . KIR3DX1 19 54532692 54545771 N . N N . . . . . . KIRREL2 19 35855861 35867109 N . N N 0.830866718 89.81304625 8.95E-06 78.3 . . KIRREL3 11 126423359 127003460 N . N Y -0.46092589 21.86143428 0.977505781 12.1 DM Mental retardation, autosomal dominant 4, 612581 (3) KISS1 1 204190341 204196486 N . N Y 0.706540877 87.05215026 0.524779455 29.3 DM ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3) KISS1R 19 917287 921015 Y Viable N Y . . 0.003971074 59.1 DM Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3); ?Precocious puberty, central, 1, 176400 (3) KIZ 20 21125983 21246622 N . N Y . . . . . Retinitis pigmentosa 69, 615780 (3) KL 13 33016433 33066145 N . N Y -0.064876519 44.77050414 1.95E-05 76.3 DM {Coronary artery disease, susceptibility to} (3); Tumoral calcinosis, hyperphosphatemic, 211900 (3) KLB 4 39406853 39451536 N . N Y 0.475498699 79.53348382 0.094473079 43.5 DFP . KLC1 14 103561896 103714249 N . N Y -0.93856934 8.878856283 0.514955332 29.6 . . KLC2 11 66257294 66267860 N . N Y -0.820275787 11.17092088 0.997255173 7.4 . . KLC3 19 45333434 45351520 N . N N 0.63834588 85.3041616 3.16E-06 80.4 . . KLC4 6 43040777 43075099 N . N N -0.415907187 23.67309139 0.236002385 37.5 . . KLF10 8 102648779 102655902 N . N Y -0.059589522 45.15830295 0.003421767 59.8 DM . KLF11 2 10042849 10054836 N . N Y -0.498441623 20.26393471 0.00111669 64.3 DM Maturity-onset diabetes of the young, type VII, 610508 (3) KLF12 13 73686089 74133905 N . N N -0.123440781 40.55680963 0.982233162 11.4 . . KLF13 15 31326855 31435665 N . N Y . . 0.62911365 26.7 . . KLF14 7 130731235 130734061 N Viable N Y . . 0.218113823 38.1 . . KLF15 3 126342635 126357442 N . N Y 0.108195341 57.87463101 0.435175999 31.8 . . KLF16 19 1852399 1863568 N . N N . . 0.473218601 30.8 . . KLF17 1 44118850 44135140 N Viable N Y 0.2133882 65.27174857 4.25E-09 89.7 . . KLF8 X 56232421 56287889 N . N N 0.317324799 71.58071424 0.027862422 50.1 DM . KLF9 9 70384597 70414624 N . N Y -0.002587674 49.23887249 0.882452241 18.5 . . KLHDC1 14 49693105 49753152 N . N N -0.608422187 16.49591943 0.000148223 70.7 . . KLHDC10 7 130070510 130135720 N . N N -0.440636427 22.72385252 0.99668379 7.7 . . KLHDC3 6 43014103 43021298 N . N N -0.545680331 18.36545697 0.993829271 8.9 . . KLHDC4 16 87696485 87765992 N . N N 1.574075574 97.34328877 3.71E-19 98.5 . . KLHDC7A 1 18480982 18486126 N . N N 0.649987795 85.61671587 2.58E-10 92.2 . . KLHDC7B 22 50548033 50551023 N . N N . . 0.000573067 66.6 . . KLHDC8A 1 205336065 205357090 N . N N -0.508966819 19.83561961 1.59E-05 76.9 . . KLHDC8B 3 49171611 49176486 N . N N -0.588784515 17.09787579 0.01042142 54.8 DM {Hodgkin lymphoma, susceptibility to}, 236000 (3) KLHDC9 1 161098361 161100346 N . N N 0.403684998 75.99699022 5.37E-06 79.4 . . KLHL1 13 69700594 70108493 N . N Y -0.161609816 37.88273427 0.008083442 55.9 DM? . KLHL10 17 41835685 41848384 N . N Y 0.061414866 54.25131678 0.931027664 16.1 DM Spermatogenic failure 11, 615081 (3) KLHL11 17 41853545 41865431 N . N N -0.800636123 11.57608381 0.053467776 46.6 . . KLHL12 1 202891100 202928636 N . N N -0.888916757 9.804942988 0.008086988 55.8 . . KLHL13 X 117897813 118117340 N . N N -0.352359149 26.65972102 0.731977363 23.7 . . KLHL14 18 32672671 32773062 N . N N -1.258360725 5.076112751 0.082722189 44.2 . . KLHL15 X 23983720 24027186 N . N N -0.750182833 12.58899114 0.954395214 14.4 . . KLHL17 1 960587 965715 N . N N -1.192451557 5.660704984 2.52E-07 84.8 . . KLHL18 3 47282917 47346816 N . N Y -0.846613517 10.63842102 0.984175217 11.1 . . KLHL2 4 165207618 165323156 N . N N -0.398334639 24.51814551 0.998554857 6.5 . . KLHL20 1 173714941 173786702 N . N Y -0.705964203 13.78132778 0.061677082 45.8 . . KLHL22 22 20441519 20495883 N . N N -1.160809308 5.979047288 0.702611047 24.5 . . KLHL23 2 169694488 169776989 N . N N -0.876627282 10.0133125 0.020660798 51.5 . . KLHL24 3 183635568 183684477 N . N N -0.6149682 16.3396423 0.25241443 37 . . KLHL25 15 85759323 85795030 N . N N -1.178398399 5.822770157 2.20E-10 92.4 . . KLHL26 19 18636965 18671714 N . N N -1.70017013 2.448341726 6.67E-05 73.1 . . KLHL28 14 44924319 45042322 N . N N 0.037949145 52.39335533 0.188871209 39 . . KLHL3 5 137617500 137736090 N Viable N Y -0.422604684 23.42999363 0.924154761 16.4 DM Pseudohypoaldosteronism, type IID, 614495 (3) KLHL30 2 238138722 238152947 N . N N 2.068288359 98.6745384 8.30E-11 93.1 . . KLHL31 6 53647901 53665708 N . N N 0.317625038 71.63280662 0.019083264 51.9 . . KLHL32 6 96924620 97140754 N . N N -0.587673557 17.16733229 0.509586629 29.7 . . KLHL33 14 20428811 20435642 N . N N . . . . . . KLHL34 X 21654690 21658330 N . N N 0.310778106 71.09451872 4.42E-05 74.2 FTV . KLHL35 11 75422394 75430629 N . N N . . 1.35E-12 95.1 . . KLHL36 16 84648525 84667686 N . N N -1.644769255 2.708803612 0.939925902 15.6 . . KLHL38 8 123645527 123652950 N . N N 1.296253244 95.75736528 3.94E-06 80 . . KLHL4 X 87517749 87670050 N . N N -0.394506329 24.68021068 0.872766937 18.9 . . KLHL40 3 42685519 42692544 N . N N 0.339330085 72.82514325 0.078102706 44.6 DM Nemaline myopathy 8, autosomal recessive, 615348 (3) KLHL41 2 169509702 169526262 N . N N -0.036123783 46.87156335 0.01881204 52 . Nemaline myopathy 9, 615731 (3) KLHL42 12 27780020 27803040 N . N N -0.396420408 24.5991781 0.438781824 31.7 . . KLHL5 4 39045039 39126857 N . N N -0.236790701 33.25808879 0.00136508 63.5 . . KLHL6 3 183487531 183555689 N . N Y -0.543460696 18.45806564 3.43E-06 80.3 . . KLHL7 7 23105758 23177914 N . N N -0.883328302 9.9033397 0.000319112 68.5 DM Retinitis pigmentosa 42, 612943 (3) KLHL8 4 87160103 87240314 N Viable N Y -0.310058921 28.94020953 0.001208351 64 . . KLHL9 9 21329671 21335380 N . N N -0.824103283 11.08410025 0.988339535 10.3 DM . KLK1 19 50819148 50823787 N . N N 0.404641438 76.06644672 0.000319897 68.5 DM? [Kallikrein, decreased urinary activity of], 615953 (3) KLK10 19 51012739 51020175 N . N N 0.029338097 51.71036638 4.41E-05 74.2 . . KLK11 19 51022216 51028039 N . N N 1.050081795 93.36111593 0.057475122 46.2 . . KLK12 19 51029092 51035230 N . N N 0.412144579 76.45424553 0.001824117 62.3 DM . KLK13 19 51056206 51065114 N . N N 0.244206777 67.1412861 0.755462838 23 . . KLK14 19 51077495 51084245 N Viable N Y 1.061266122 93.50581698 1.10E-09 91.1 FTV . KLK15 19 50825289 50837213 N . N N 0.464666725 79.07044047 0.046580258 47.4 DP . KLK2 19 50861568 50880567 N . N N 0.312691067 71.2565839 0.000292492 68.8 . . KLK3 19 50854915 50860764 N . N Y 0.741479193 87.89141633 0.003472671 59.7 DM . KLK4 19 50906352 50910738 N Viable N Y 0.168219607 62.41824391 0.020194729 51.6 DM Amelogenesis imperfecta, type IIA1, 204700 (3) KLK5 19 50943303 50953093 N . N N 0.390591665 75.41239799 0.072760721 44.8 . . KLK6 19 50958631 50969673 N . N Y 0.128791076 59.33321757 0.497244484 30 . . KLK7 19 50976482 50984099 N . N N -0.028772452 47.38091104 0.006882965 56.7 DP . KLK8 19 50996007 51002711 N . N Y -0.399291813 24.48341726 0.003383666 59.9 . . KLK9 19 50996018 51009581 N . N Y 0.008742604 50.21705157 0.003938943 59.1 . . KLKB1 4 186208979 186258471 N Viable N Y 0.918035971 91.46842623 4.76E-11 93.4 DM Fletcher factor (prekallikrein) deficiency, 612423 (3) KLLN 10 87859161 87863437 N . N N . . . . DM? Cowden syndrome 4, 615107 (3) KLRB1 12 9594551 9607886 N . N N 0.423325465 77.03304972 4.43E-06 79.8 . . KLRC1 12 10442264 10454685 N . N N 0.136294125 59.95253806 0.001175461 64.1 . . KLRC2 12 10426854 10442300 N . N N 0.222654188 65.80424842 0.004278232 58.8 DFP . KLRC3 12 10412312 10420595 N . N N 0.947753661 91.98356196 0.204478936 38.6 . . KLRC4 12 10407382 10409757 N . N N 0.442966544 78.02280489 0.001087349 64.4 . . KLRC4-KLRK1 12 10372353 10410146 N . N N . . . . . . KLRD1 12 10226058 10329600 N . N N 0.474891845 79.5161197 0.015657763 52.9 . . KLRF1 12 9827481 9845007 N . N N -0.01663693 48.16808474 0.00436476 58.7 . . KLRF2 12 9881489 9895833 N . N N . . . . . . KLRG1 12 8950044 9010760 N . N Y 0.178442775 63.08386873 0.058025611 46.2 . . KLRG2 7 139452690 139483712 N . N N . . 4.21E-07 84 . . KLRK1 12 10372353 10391874 N . N Y 0.150343606 61.02332581 9.75E-10 91.1 DP . KMO 1 241532134 241595642 N Viable N Y 0.067961065 54.72593622 0.000261679 69 DP . KNCN 1 46545644 46551527 N . N N 0.373525026 74.60207212 0.029530671 49.7 . . KNDC1 10 133160447 133226412 N . N Y 0.66182694 85.97557446 4.44E-05 74.2 . . KNG1 3 186717276 186743954 N . N Y -0.519038112 19.51148926 4.17E-08 87.2 DM [Kininogen deficiency], 228960 (3); [High molecular weight kininogen deficiency], 228960 (3) KNOP1 16 19701934 19718235 N Viable N Y 0.34380991 73.08560514 3.17E-05 75.1 . . KNSTRN 15 40382721 40394246 N Viable N Y 0.778996188 88.7711987 3.16E-07 84.4 . . KNTC1 12 122527246 122626396 N . N Y 0.373016467 74.57891995 4.78E-32 99.8 . . KPNA1 3 122421949 122514945 N . N Y -0.522213436 19.34942409 0.99300095 9.2 FTV . KPNA2 17 68035519 68046842 N . N N -0.117699662 40.92724431 0.728640007 23.8 . . KPNA3 13 49699307 49792921 N . N N -0.355230595 26.57290039 0.809823934 21.3 . . KPNA4 3 160494995 160565588 N . N Y -0.32617555 27.96781849 0.998180756 6.8 . . KPNA5 6 116681187 116741866 N . N N -0.432978714 23.05377091 0.001223215 63.9 . . KPNA6 1 32108038 32176568 N . N Y -0.43680723 22.88591769 0.988827606 10.2 . . KPNA7 7 99173574 99207506 N . N N . . . . . . KPRP 1 152759561 152762052 N . N N 1.450965995 96.71818024 7.83E-14 96.2 FTV . KPTN 19 47475144 47484268 N . N Y -0.154409651 38.42681021 0.000791095 65.5 . Mental retardation, autosomal recessive 41, 615637 (3) KRBA1 7 149714781 149734575 N . N N . . 1.47E-12 95.1 . . KRBA2 17 8368637 8376711 N . N N 0.758398892 88.27921514 3.93E-07 84.1 . . KRBOX1 3 42809483 42942792 N . N N . . 0.4168236 32.3 . . KRBOX4 X 46446857 46497422 N . N N 0.191535973 63.89419459 0.377824216 33.4 . . KRCC1 2 88027205 88055729 N . N N 0.234790597 66.51038954 0.187811675 39 . . KREMEN1 22 29073078 29168333 N . N Y 0.21530172 65.35278115 0.372971656 33.5 . . KREMEN2 16 2963944 2968383 N . N Y . . 0.414292182 32.4 . . KRI1 19 10553078 10566037 N . N N . . 8.40E-09 89.2 . . KRR1 12 75490861 75511636 N . N N -0.442395976 22.60809168 0.019350581 51.9 . . KRT12 17 40861303 40867210 N . N Y 0.230307728 66.27307982 9.44E-11 93 DM Meesmann corneal dystrophy, 122100 (3) KRT13 17 41500981 41505705 N . N N 0.459226419 78.77525033 0.001667541 62.6 DM White sponge nevus 2, 615785 (3) KRT15 17 41513743 41522529 N . N N 1.120633958 94.20617005 3.51E-15 97 . . KRT17 17 41619437 41624842 N Viable N Y -0.131748807 39.96064132 7.07E-06 78.9 DM Pachyonychia congenita 2, 167210 (3); Steatocystoma multiplex, 184500 (3) KRT18 12 52948871 52952901 N . N Y -0.251948674 32.33200208 0.624782588 26.8 DM Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) KRT20 17 40875941 40885227 N . N N -0.173091047 37.17659316 5.58E-06 79.3 . . KRT222 17 40628797 40665141 N . N N -0.159194457 38.09110378 0.002126682 61.6 . . KRT23 17 40922696 40937634 N . N N 0.441349938 77.95334838 2.83E-08 87.7 . . KRT24 17 40697991 40703750 N . N N 0.379563212 74.9030503 5.09E-13 95.5 . . KRT25 17 40748021 40755332 N . N N 0.275325819 69.02818776 1.85E-06 81.5 . . KRT26 17 40766238 40772162 N . N N 1.079287635 93.73155062 7.23E-10 91.4 . . KRT27 17 40776808 40782534 N . N N 0.086794166 56.20767494 8.01E-14 96.2 . . KRT28 17 40792203 40799959 N . N N 0.421710946 76.92307692 2.07E-07 85.1 . . KRT3 12 52789685 52796117 N . N N 0.947092883 91.96619784 1.93E-06 81.4 DM Meesmann corneal dystrophy, 122100 (3) KRT31 17 41393724 41397592 N . N N -0.154257752 38.43838629 0.928538286 16.2 DFP . KRT32 17 41459811 41467429 N . N N 1.667639178 97.80054408 1.21E-15 97.2 . . KRT33A 17 41346092 41350812 N . N Y 0.431127766 77.4729409 2.04E-11 93.9 . . KRT33B 17 41363494 41397592 N . N N 1.234148932 95.34062627 2.40E-06 80.9 . . KRT34 17 41377650 41382403 N . N N 1.11695934 94.15407768 2.61E-06 80.8 . . KRT35 17 41476689 41481140 N . N N 1.129094856 94.31614285 0.017032338 52.5 . . KRT36 17 41486136 41492546 N . N N 1.431170141 96.57347919 3.98E-09 89.8 . . KRT37 17 41420753 41424523 N . N N 1.108498153 94.0325288 0.000453721 67.3 FTV . KRT38 17 41436446 41440921 N . N N 0.448047836 78.27747873 2.17E-05 76 FTV . KRT39 17 40958417 40966892 N . N N 0.511748286 80.94576605 8.46E-09 89.1 . . KRT40 17 40977716 40987135 N . N N 1.648801149 97.71951149 0.000203217 69.8 . . KRT6C 12 52468516 52473785 N . N N 0.838370111 89.9866875 4.11E-12 94.7 DM Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3) KRT7 12 52232520 52252186 N Viable N Y 0.331674235 72.41419228 2.79E-09 90.2 . . KRT71 12 52543909 52553147 N . N N 1.03441881 93.19326272 3.13E-08 87.6 DM ?Hypotrichosis 13, 615896 (3) KRT72 12 52585589 52601538 N . N N 1.65167234 97.74266366 3.07E-05 75.2 . . KRT73 12 52607570 52618559 N . N N 0.677928319 86.36337327 2.01E-11 93.9 . . KRT74 12 52565782 52573825 N Viable N Y 1.460386131 96.75869653 8.40E-09 89.2 DM Woolly hair, autosomal dominant, 194300 (3); ?Hypotrichosis 3, 613981 (3); ?Ectodermal dysplasia 7, hair/nail type, 614929 (3) KRT75 12 52424070 52434525 N . N N 2.037466694 98.62823407 5.14E-07 83.7 DM? {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) KRT76 12 52768155 52777345 N . N Y 1.763444293 98.10152226 6.27E-07 83.3 . . KRT77 12 52689626 52703463 N . N N 0.814902524 89.44261156 1.05E-06 82.5 . . KRT78 12 52837804 52849092 N . N N 1.44250399 96.68345199 2.06E-08 88.1 . . KRT79 12 52821410 52834295 N . N N 1.215466464 95.20171326 2.99E-10 92.2 . . KRT80 12 52168996 52192000 N . N N 1.278215881 95.62424032 5.43E-05 73.7 . . KRT81 12 52285913 52291534 N . N N . . 2.16E-07 85 DM Monilethrix, 158000 (3) KRT82 12 52393931 52406355 N . N N 1.574868409 97.36065289 2.61E-16 97.6 . . KRT83 12 52314301 52321398 N . N N 1.391890064 96.35932164 1.70E-10 92.6 DM ?Monilethrix, 158000 (3) KRT84 12 52377812 52385652 N . N N 1.965125549 98.5356254 9.43E-07 82.6 . . KRT85 12 52360006 52367481 N . N N 0.462097059 78.93731551 0.001109146 64.3 DM Ectodermal dysplasia 4, hair/nail type, 602032 (3) KRT86 12 52249300 52309163 N . N N 0.292245427 70.07003531 3.64E-05 74.7 DM Monilethrix, 158000 (3) KRT9 17 41565841 41572058 N Viable N Y 0.179700355 63.18226544 0.001318731 63.7 DM Palmoplantar keratoderma, epidermolytic, 144200 (3) KRTAP10-1 21 44538981 44540195 N . N N 2.248432447 98.92342421 0.106027011 42.8 . . KRTAP10-10 21 44637356 44638455 N . N N 1.919940748 98.43144064 2.64E-05 75.5 . . KRTAP10-11 21 44646414 44697984 N . N N 1.648801149 97.71951149 0.000395208 67.8 . . KRTAP10-12 21 44697172 44698044 N . N N 0.566034018 82.93685246 0.114715058 42.4 . . KRTAP10-2 21 44550357 44551505 N . N N 0.794959429 89.10690513 0.017072106 52.4 . . KRTAP10-3 21 44557790 44558760 N . N N 1.63747025 97.68478324 0.065246072 45.5 . . KRTAP10-4 21 44573729 44575371 N . N N 2.518826268 99.19546218 0.001830723 62.2 . . KRTAP10-5 21 44579455 44580604 N . N N 1.108346101 94.02674075 8.25E-05 72.4 . . KRTAP10-6 21 44579737 44592505 N . N N 2.664339778 99.27070672 1.55E-05 76.9 . . KRTAP10-7 21 44600597 44612906 N . N N . . 0.007594055 56.2 . . KRTAP10-8 21 44612079 44612954 N . N N 0.884044995 90.80858945 5.21E-06 79.5 . . KRTAP10-9 21 44627123 44628293 N . N N 1.719215563 97.95682121 0.442793927 31.6 . . KRTAP1-1 17 41040559 41041461 N . N N 1.462810562 96.7818487 0.008442977 55.6 FTV . KRTAP11-1 21 30880644 30881555 N . N N 0.285399426 69.6822365 0.00426873 58.8 . . KRTAP12-1 21 44681576 44682163 N . N N 0.578982235 83.39989582 0.025197119 50.5 . . KRTAP12-2 21 44666189 44666927 N . N N 1.18132968 94.85443075 5.58E-05 73.6 . . KRTAP12-3 21 44646657 44658341 N . N N 0.517999482 81.17149968 0.146058957 40.8 . . KRTAP12-4 21 44654213 44654659 N . N N 0.154020328 61.30693986 0.002790687 60.6 . . KRTAP1-3 17 41033884 41034855 N . N N 1.09783013 93.922556 0.653995931 25.9 . . KRTAP13-1 21 30396074 30396822 N . N N 0.475848013 79.55084795 0.007112706 56.5 . . KRTAP13-2 21 30348075 30425912 N . N N 0.507773402 80.77212479 0.000843088 65.4 FTV . KRTAP13-3 21 30425265 30425968 N . N N 0.020878273 51.13735023 0.000682837 66 . . KRTAP13-4 21 30430230 30431026 N . N N 0.597812859 84.04236847 0.007741209 56.1 . . KRTAP1-4 17 41029697 41030104 N . N N 0.557428105 82.71111883 0.141056283 41 . . KRTAP1-5 17 41026026 41027202 N . N N 1.592300831 97.44168548 0.001046463 64.6 . . KRTAP15-1 21 30440275 30440945 N . N N 0.193448992 64.03889564 0.00443717 58.6 . . KRTAP16-1 17 41307700 41309253 N . N N . . . . . . KRTAP17-1 17 41314917 41315695 N . N N 0.229051722 66.16310702 0.540107765 28.9 . . KRTAP19-1 21 30479699 30480344 N . N N 0.048020238 53.25577357 0.041048079 48.2 . . KRTAP19-2 21 30487057 30487436 N . N N 0.310630546 71.0771546 0.126076455 41.7 . . KRTAP19-3 21 30480048 30491985 N . N N 0.108045035 57.83990276 0.004405843 58.7 . . KRTAP19-4 21 30496824 30497133 N . N N 0.418544532 76.73785958 0.023888003 50.7 . . KRTAP19-5 21 30501657 30502117 N . N N 0.427003903 77.20669098 0.005182713 57.9 . . KRTAP19-6 21 30541535 30541864 N . N N 0.508584272 80.78948892 0.020360822 51.6 . . KRTAP19-7 21 30541660 30561314 N . N N 0.630550326 85.07263993 0.141234959 41 . . KRTAP19-8 21 31038159 31038476 N . N N 0.289077164 69.85587776 0.007486123 56.3 . . KRTAP20-1 21 30616425 30616699 N . N N 0.326593235 72.13057823 0.023274211 50.9 . . KRTAP20-2 21 30635236 30635619 N . N N 0.250604857 67.47120449 0.137405133 41.2 . . KRTAP20-3 21 30642864 30643136 N . N N . . . . . . KRTAP20-4 21 30620627 30620850 N . N N . . . . . . KRTAP2-1 17 41046541 41047316 N . N N . . . . . . KRTAP21-1 21 30754830 30755428 N . N N 0.335052688 72.57046941 0.485522902 30.4 . . KRTAP21-2 21 30746794 30747233 N . N N 0.380072103 74.92620247 0.250319145 37.1 . . KRTAP21-3 21 30718525 30718777 N . N N . . . . . . KRTAP2-2 17 41054498 41055230 N . N N . . . . . . KRTAP22-1 21 30601087 30601382 N . N N 0.355650049 73.72807779 0.124017871 41.9 . . KRTAP22-2 21 30590105 30590397 N . N N . . . . . . KRTAP2-3 17 41059240 41060114 N . N N . . 0.0777172 44.6 . . KRTAP23-1 21 30348399 30348609 N . N N 0.501080921 80.47693465 0.454990924 31.2 . . KRTAP2-4 17 41065116 41065879 N . N N . . 0.086348363 44 . . KRTAP24-1 21 30281309 30282958 N . N N 0.411188149 76.40794119 9.17E-06 78.3 . . KRTAP25-1 21 30289145 30289514 N . N N . . . . . . KRTAP26-1 21 30319124 30320316 N . N N 0.50027016 80.45378249 0.001006633 64.7 . . KRTAP27-1 21 30337013 30337694 N . N N 0.537786438 81.96446142 1.09E-05 77.8 . . KRTAP29-1 17 41301826 41302851 N . N N . . . . . . KRTAP3-1 17 41008521 41019324 N . N N 0.434507168 77.58870174 0.473819461 30.7 . . KRTAP3-2 17 40999193 40999894 N . N N 0.473935719 79.48717949 0.474662317 30.7 . . KRTAP3-3 17 40993430 40994133 N . N N 0.412953559 76.48897378 0.004787667 58.3 . . KRTAP4-1 17 41184102 41185342 N . N N . . 0.179915849 39.3 . . KRTAP4-11 17 41117181 41118360 N . N N 1.868216586 98.33304393 0.09863984 43.2 . . KRTAP4-12 17 41123091 41124167 N . N N 0.60818461 84.40701511 0.741776469 23.4 . . KRTAP4-16P 17 41101502 41102209 N . N N . . 0.005496296 57.7 . . KRTAP4-2 17 41177446 41178208 N . N N 0.406406543 76.17063148 0.005024741 58.1 . . KRTAP4-3 17 41167231 41168194 N . N N 1.628870292 97.62111478 0.000536885 66.8 . . KRTAP4-4 17 41159651 41160731 N . N N 0.819236301 89.50049198 0.001041594 64.6 . . KRTAP4-5 17 41148924 41149802 N . N N 1.614815421 97.5690224 0.010387961 54.8 . . KRTAP4-6 17 41139433 41140487 N . N N 1.951732722 98.48932106 0.014500199 53.3 . . KRTAP4-7 17 41084150 41106067 N . N N 1.431837213 96.57926723 1.11E-05 77.8 . . KRTAP4-8 17 41096981 41098141 N . N N 1.05839969 93.46530069 0.009770819 55 DM? . KRTAP4-9 17 41105332 41106488 N . N N 1.760276505 98.08415813 0.001503782 63 . . KRTAP5-1 11 1584342 1585283 N . N N 0.763989364 88.43549227 0.000129616 71.1 . . KRTAP5-10 11 71527263 71568934 N . N N 0.814600928 89.4194594 0.191708884 38.9 . . KRTAP5-11 11 71579714 71603353 N . N N 0.126877769 59.25218499 0.033567492 49.1 . . KRTAP5-2 11 1597177 1598294 N . N N 0.354840535 73.70492562 0.000625083 66.3 . . KRTAP5-3 11 1607565 1608463 N . N N 0.236703709 66.62615037 0.262910457 36.7 . . KRTAP5-4 11 1620958 1622138 N . N N . . 0.006793706 56.7 . . KRTAP5-5 11 1629775 1630707 N . N N 0.890592391 90.9532905 1.15E-05 77.7 . . KRTAP5-6 11 1697195 1697755 N . N N 0.109958322 57.97881577 0.00039398 67.8 . . KRTAP5-7 11 71527267 71528674 N . N N 0.56029629 82.76321121 0.581964461 27.9 . . KRTAP5-8 11 71527301 71549167 N . N N 1.212301453 95.14383284 0.006907479 56.7 . . KRTAP5-9 11 71548418 71549553 N . N N 1.233858592 95.33483822 0.000861771 65.3 . . KRTAP6-1 21 30613431 30613930 N . N N 0.653060723 85.71511258 0.000321176 68.4 . . KRTAP6-2 21 30598590 30598902 N . N N 0.479526897 79.73027725 0.165055211 39.9 . . KRTAP6-3 21 30592440 30593075 N . N N . . 0.532856912 29.1 . . KRTAP7-1 21 30829039 30829759 N . N N . . . . . . KRTAP8-1 21 30812697 30813252 N . N N 0.319090009 71.70805117 0.020512482 51.5 . . KRTAP9-1 17 41189887 41190639 N . N N 0.971220586 92.33663252 0.001398091 63.4 . . KRTAP9-2 17 41189853 41227652 N . N N 0.782674771 88.85223129 0.238025346 37.4 . . KRTAP9-3 17 41232463 41233454 N . N N -0.136685385 39.64229901 0.044712944 47.6 DM? . KRTAP9-4 17 41249687 41250653 N . N N 0.249796776 67.44226428 0.000785607 65.6 . . KRTAP9-6 17 41265339 41266641 N . N N 0.419500646 76.80152804 0.194495478 38.8 . . KRTAP9-7 17 41275659 41276697 N . N N 1.036843424 93.21641489 0.00547083 57.7 . . KRTAP9-8 17 41232475 41239004 N . N N 0.789222232 88.97378017 0.043754126 47.7 . . KRTAP9-9 17 41226653 41256364 N . N N 1.24422892 95.39271864 0.007298706 56.4 . . KRTCAP2 1 155169408 155173475 N . N N -0.155519548 38.35156567 0.02997049 49.6 . . KRTCAP3 2 27442366 27446481 N . N N -0.219218665 34.36360479 0.044523534 47.6 . . KRTDAP 19 35487324 35495558 N . N N 0.085535714 56.11506627 0.075330919 44.7 . . KSR1 17 27456714 27626438 N . N Y 0.072896737 55.12531111 0.609182271 27.2 . . KSR2 12 117453012 117968983 N . N Y -1.274180508 4.91983562 0.999946625 3.3 . . KTI12 1 52032103 52033816 N . N N 0.242443541 67.04288939 0.034293834 49 . . KTN1 14 55559072 55701526 N . N Y -0.000873422 49.33148116 0.639772921 26.3 . . KXD1 19 18557762 18569387 N . N Y 0.33887786 72.80777913 0.140915882 41 . . KY 3 134603138 134651636 N . N N 0.024051489 51.38044799 1.07E-08 88.8 . . KYNU 2 142877498 143055832 N . N N -0.209649144 34.96556115 1.83E-09 90.6 DM ?Hydroxykynureninuria, 236800 (3) L1TD1 1 62194831 62212328 N . N Y . . 0.000340201 68.3 . . L2HGDH 14 50237563 50312548 N . N N 0.211474757 65.18492794 0.309969498 35.5 DM L-2-hydroxyglutaric aciduria, 236792 (3) L34079.2 19 43554692 43593036 N . N N . . . . . . L3HYPDH 14 59460363 59484430 N . N N 0.263995952 68.32783469 1.52E-07 85.6 . . L3MBTL1 20 43507680 43550950 N . N N 0.277391673 69.1439486 2.08E-07 85.1 DM? . L3MBTL4 18 5954706 6415237 N . N N -0.013463392 48.46327487 4.20E-08 87.2 . . LA16c-306E5.2 16 3365099 3479550 N . N N . . . . . . LA16c-380H5.3 16 2988256 3002016 N . N N . . . . . . LA16c-431H6.6 16 1632259 1686715 N . N N . . . . . . LACC1 13 43879284 43893932 N . N N -0.329850009 27.74208485 4.64E-06 79.7 DP . LACE1 6 108294894 108526796 N . N N 0.199338946 64.3514499 2.79E-06 80.7 . . LACRT 12 54630811 54634895 N . N N -0.078575026 43.76338485 8.88E-05 72.3 . . LACTB 15 63121800 63142061 N . N N -0.252905653 32.27412166 0.002659612 60.8 . . LACTB2 8 70635318 70669174 N . N N -0.316758145 28.47137813 0.000281761 68.8 . . LACTBL1 1 22953043 22965338 N . N N . . . . . . LAD1 1 201373244 201399915 N . N N 1.317650215 95.90785437 4.13E-08 87.3 FTV . LAG3 12 6772512 6778455 N . N Y 0.585823275 83.70087399 0.109617011 42.6 . . LAGE3 X 154477769 154479257 N . N N 0.447601653 78.21381027 0.227379901 37.8 . . LAIR1 19 54351384 54370558 N . N Y 0.385001656 75.16930023 2.06E-05 76.1 . . LAIR2 19 54497879 54510687 N . N N 0.597812859 84.04236847 0.000138974 70.9 FTV . LALBA 12 48567684 48570066 N . N Y 0.259064403 67.99212826 0.395945445 32.9 . . LAMA4 6 112108760 112254939 Y Viable N Y -0.92917749 9.046709498 9.75E-09 88.9 DM Cardiomyopathy, dilated, 1JJ, 615235 (3) LAMB3 1 209614870 209652466 Y Viable N Y 1.951806343 98.4951091 1.36E-09 90.9 DM Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Amelogenesis imperfecta, type IA, 104530 (3) LAMB4 7 108023548 108130356 N . N N -0.274244383 31.04705678 3.21E-30 99.7 DM? . LAMC3 9 131009082 131094473 N . N Y 1.91278304 98.4256526 9.82E-11 92.9 DM Cortical malformations, occipital, 614115 (3) LAMP1 13 113297241 113323672 N . N Y -0.445113938 22.4865428 0.978974559 12 . . LAMP2 X 120427827 120469365 N . N Y 0.183225703 63.41957516 0.949783835 14.8 DM Danon disease, 300257 (3) LAMP3 3 183122213 183163839 N . N N 0.628929435 85.03212363 0.833342527 20.5 . . LAMP5 20 9514358 9530524 N . N N -0.382371374 25.31110725 3.84E-08 87.3 . . LAMTOR3 4 99878336 99894490 N . N N -0.082402837 43.40452625 0.680579445 25.1 . . LAMTOR4 7 100148907 100155944 N . N N 0.198082641 64.25305319 0.025687025 50.4 . . LANCL1 2 210431249 210477652 N . N Y 0.533300984 81.79660821 9.92E-06 78.1 . . LANCL2 7 55365448 55433742 N Viable N Y -0.093428832 42.59420038 0.786760146 22.1 . . LANCL3 X 37571569 37684463 N . N N . . 0.522828102 29.4 . . LAP3 4 17577192 17607972 N . N N -0.127116299 40.27319558 0.001220134 63.9 . . LAPTM4A 2 20032650 20052028 N Viable N Y 0.097822207 56.98327256 0.50380241 29.8 . . LAPTM4B 8 97775057 97853013 N . N N 0.737654087 87.78144354 3.43E-05 74.9 DM? . LAPTM5 1 30732469 30757820 N . N Y 0.387722289 75.27927302 0.735702166 23.6 . . LARP1 5 154712902 154817607 N . N N -0.781654413 11.94651849 0.999952189 3.2 . . LARP1B 4 128061268 128222931 N . N N -0.213174425 34.71667535 2.24E-06 81.1 . . LARP4 12 50392383 50480004 N . N N -0.700222136 13.91445274 0.994628856 8.6 . . LARP4B 10 806914 931705 N . N N -0.210454696 34.89610465 0.999885804 3.9 . . LARP6 15 70829130 70854159 N . N N -0.591501503 16.99369103 0.882216412 18.5 . . LARS 5 146113038 146182660 N . N N -0.590101185 17.0573595 2.27E-05 75.9 DM ?Infantile liver failure syndrome 1, 615438 (3) LARS2 3 45388506 45549421 N . N N -0.482330978 20.88325519 2.61E-07 84.7 DM Perrault syndrome 4, 615300 (3) LAS1L X 65512582 65534775 N . N N -0.339267298 27.29640563 0.892095595 18.1 . . LASP1 17 38869859 38921770 N . N Y -0.182660566 36.56884876 0.866739435 19.2 . . LAT 16 28984826 28990783 N . N Y 0.078183267 55.57099033 0.097433294 43.3 . . LAT2 7 74199652 74229834 N . N Y 0.077226532 55.46680558 0.000691063 66 . . LAX1 1 203765176 203776233 N . N Y 0.825929637 89.67413324 4.68E-07 83.9 . . LAYN 11 111540280 111561745 N . N N 0.353076131 73.59495283 2.18E-06 81.2 . . LBH 2 30231531 30323730 N . N Y -0.042973552 46.37957979 0.300590032 35.7 DM? . LBHD1 11 62662817 62672255 N . N N . . . . . . LBP 20 38346356 38377023 N Viable N Y 2.334832157 99.02760896 5.69E-14 96.3 DFP . LBX2 2 74497517 74503316 N . N N 0.439288148 77.85495167 0.617324062 27 . . LCA5 6 79484991 79537458 N . N N -0.535000983 18.79377207 0.004282174 58.8 DM Leber congenital amaurosis 5, 604537 (3) LCA5L 21 39405844 39445805 N . N N 0.614073992 84.58644441 1.91E-06 81.4 . . LCAT 16 67939750 67944131 N . N Y 0.136444713 59.97569022 0.496435716 30.1 DM Norum disease, 245900 (3); Fish-eye disease, 136120 (3) LCE1A 1 152827473 152827894 N . N N 0.542421446 82.15546681 0.000409834 67.7 . . LCE1B 1 152737518 152813109 N . N N 0.102455237 57.40579962 0.027267491 50.2 . . LCE1C 1 152804835 152806628 N . N N 0.043387416 52.82745847 0.02751645 50.1 . . LCE1D 1 152796751 152798181 N . N N 0.716911447 87.32418823 0.003567547 59.6 . . LCE1E 1 152786214 152788426 N . N N 0.817324593 89.47733982 0.0003997 67.7 . . LCE1F 1 152776372 152776728 N Viable N Y 0.557428105 82.71111883 0.029498772 49.7 . . LCE2A 1 152698364 152699442 N . N N 0.299449341 70.47519824 0.006193801 57.1 . . LCE2B 1 152686123 152687401 N . N N 0.28635585 69.71117671 0.137251509 41.2 . . LCE2C 1 152675295 152676574 N . N N 0.187858986 63.66846096 0.022606204 51 . . LCE2D 1 152663396 152664659 N . N N 0.330418352 72.31579557 0.139231288 41.1 . . LCE3A 1 152622834 152623103 N . N N 0.130554386 59.44897841 0.496361201 30.1 . . LCE3B 1 152613811 152614098 N . N N . . 0.039623989 48.4 DM? . LCE3C 1 152511535 152601086 N . N N . . 0.496169125 30.1 DFP . LCE3D 1 152579381 152580504 N . N N 0.867938626 90.50761128 7.91E-05 72.6 . . LCE3E 1 152565654 152566772 N . N N 0.396990911 75.66707183 0.039000927 48.5 . . LCE4A 1 152708160 152709491 N . N N 0.783487616 88.86380737 0.003280182 60 . . LCE5A 1 152510844 152512177 N . N N 0.571478862 83.14522197 0.076726019 44.6 FTV . LCE6A 1 152842868 152843983 N . N N . . . . . . LCK 1 32251239 32286165 N . N Y 0.050084766 53.41783875 0.999425041 5.3 DM ?Immunodeficiency 22, 615758 (3) LCLAT1 2 30447226 30644225 N . N Y -0.115937794 41.07194536 0.00017561 70.2 . . LCMT2 15 43323649 43330605 N . N N -0.201845034 35.34757192 7.27E-08 86.5 . . LCN1 9 135521438 135526532 N . N N 0.34829376 73.28818661 1.91E-07 85.2 . . LCN10 9 136738167 136743356 N . N N 0.401772227 75.92174567 0.002128013 61.6 DM? . LCN12 9 136949551 136955497 N . N N 0.79481394 89.07217688 0.001532037 62.9 . . LCN15 9 136759634 136766255 N . N N 0.119374702 58.69074492 0.006880598 56.7 . . LCN2 9 128149071 128153455 N . N Y 0.803273327 89.20530185 0.000596069 66.5 . . LCN6 9 136744011 136748528 N . N N 0.416778578 76.67419112 2.55E-05 75.6 . . LCN8 9 136754386 136758543 N . N N 0.453338311 78.48584824 0.042675812 47.9 . . LCN9 9 135663322 135666422 N . N N 0.817324593 89.47733982 0.014871729 53.2 . . LCNL1 9 136981904 136986410 N . N N . . 0.003015951 60.3 . . LCOR 10 96832260 96981043 N . N N -0.17787558 36.8640389 0.913200262 17.1 . . LCORL 4 17841199 18021876 N . N N . . 0.96311457 13.7 . . LCP1 13 46125920 46211871 N . N Y 0.122395494 58.93963072 0.973076021 12.7 . . LCT 2 135787840 135837180 N . N N -1.134780252 6.193204839 0.064255017 45.6 DM Lactase deficiency, congenital, 223000 (3) LCTL 15 66547179 66565979 N . N N -0.083860557 43.30034149 4.65E-08 87.1 . . LDAH 2 20684014 20823130 N Viable N Y . . . . . . LDB2 4 16501541 16898809 N . N Y -0.597245112 16.75638132 0.976067857 12.3 . . LDHAL6A 11 18455824 18479600 N . N N 0.868081708 90.53076344 0.000200256 69.8 . . LDHAL6B 15 59206823 59208515 N . N N 0.458269625 78.73473404 7.95E-07 83 . . LDHB 12 21635342 21757857 N Viable N Y -0.400249026 24.39659663 2.03E-05 76.2 DM [Lactate dehydrogenase-B deficiency], 614128 (3) LDHC 11 18412307 18452058 N . N Y 0.290181792 69.94269839 0.000944178 65 . . LDHD 16 75111860 75116771 N . N N -0.812772372 11.32719801 4.49E-06 79.8 . . LDLR 19 11089362 11133816 N . N Y -0.563768197 17.8040169 2.59E-16 97.6 DM Hypercholesterolemia, familial, 143890 (3); LDL cholesterol level QTL2, 143890 (3) LDLRAD1 1 54007299 54018186 N . N N 0.932746276 91.78098049 0.000101665 71.8 DP . LDLRAD2 1 21812265 21825221 N . N N 0.296728366 70.30734503 0.000195123 69.9 . . LDLRAD3 11 35943981 36232136 N . N N 0.37749856 74.80465359 0.02508931 50.5 . . LDLRAD4 18 13217498 13652755 N Viable N Y -0.224807605 34.0336864 0.377306395 33.4 . . LDLRAP1 1 25543580 25568886 N . N Y 0.034121997 52.16762169 2.90E-05 75.3 DM Hypercholesterolemia, familial, autosomal recessive, 603813 (3) LDOC1 X 141175745 141177125 N . N N 0.007634404 50.08971465 0.575480326 28.1 . . LDOC1L 22 44492572 44498298 N . N N -0.388114712 25.02170516 0.142833061 40.9 . . LEAP2 5 132872322 132875046 N . N N 0.290033479 69.90218209 0.007898378 56 . . LECT1 13 52703264 52739812 N . N Y 0.186095639 63.59900446 6.68E-06 79 . . LECT2 5 135922279 135955034 N . N Y 0.095908833 56.83278347 0.005802494 57.4 . . LEKR1 3 156825481 157046129 N . N N . . . . . . LELP1 1 153203443 153205120 N . N N 0.206542259 64.76240088 0.000473718 67.2 . . LEMD1 1 205381378 205457091 N . N N 0.133424212 59.69786421 0.004572606 58.6 . . LENEP 1 154993586 154994315 N . N N 0.220592134 65.68848758 0.032282623 49.3 . . LENG1 19 54155161 54159882 N . N N 0.62046966 84.76008566 2.63E-09 90.3 . . LENG8 19 54448887 54462037 N . N N -0.662410983 14.97945245 0.998395296 6.6 . . LENG9 19 54461796 54463711 N . N N 1.196629346 94.98176767 4.99E-10 91.8 . . LEO1 15 51938025 51971806 N . N N -0.658073323 15.10678937 0.99960597 4.9 . . LEPR 1 65420652 65641559 N . N Y -1.0845293 6.719916652 0.999805342 4.3 DM Obesity, morbid, due to leptin receptor deficiency, 614963 (3) LEPROT 1 65420587 65436007 N Viable N Y 0.070529515 54.92272964 0.094789357 43.5 . . LEPROTL1 8 30095398 30177208 N Viable N Y -0.112415198 41.29189095 0.622320079 26.9 . . LETM1 4 1811479 1856247 N . N N -0.577151203 17.4451583 0.081054726 44.4 DM . LETM2 8 38386207 38409527 N . N N 0.370952088 74.45158303 1.34E-10 92.7 . . LETMD1 12 51047962 51060424 N . N N 0.1035625 57.4868322 0.793860582 21.9 . . LEUTX 19 39776595 39786135 N . N N . . . . . . LGALS1 22 37675608 37679806 N . N Y -0.230550154 33.7153441 0.004636898 58.5 . . LGALS12 11 63506084 63516774 N . N Y 0.369995468 74.38791457 2.69E-09 90.3 . . LGALS13 19 39602501 39607476 N . N N 0.543377487 82.18440702 6.78E-05 73 DM . LGALS14 19 39704306 39709444 N . N N 0.748837022 88.07663367 0.010012279 54.9 . . LGALS16 19 39655894 39660647 N . N N 0.525502816 81.44353765 4.37E-05 74.3 . . LGALS2 22 37570246 37582616 N . N Y 0.618410947 84.71956937 0.014689032 53.3 DFP {Myocardial infarction, susceptibility to}, 608446 (3) LGALS3 14 55124110 55145413 N Viable N Y 0.274219089 68.94136714 0.000175114 70.2 DFP . LGALS3BP 17 78971238 78980109 N . N Y 0.570969045 83.11049372 3.93E-07 84.1 . . LGALS4 19 38801671 38813364 N . N N -0.86449177 10.29113851 6.57E-06 79.1 . . LGALS7 19 38770971 38773492 N . N Y . . 0.433767043 31.9 . . LGALS7B 19 38789211 38791749 N Viable N Y . . 0.478395552 30.6 . . LGALS8 1 236518000 236552981 N . N Y -0.136532991 39.65966314 0.000188797 70 FTV . LGALS9 17 27629798 27649560 N . N Y 0.763989364 88.43549227 0.00139054 63.4 . . LGALS9B 17 20449395 20467539 N . N N 0.341747043 72.9698443 . . DM? . LGALS9C 17 18476737 18494945 N . N N 0.861534378 90.39763848 0.940115541 15.6 . . LGALSL 2 64453969 64461381 N . N N 0.457973076 78.70579383 0.670765299 25.5 . . LGI2 4 24998847 25030879 N . N N -0.878541444 9.972796203 4.42E-05 74.2 . . LGI3 8 22146825 22157084 N . N N -0.167350159 37.57018001 1.95E-05 76.3 . . LGMN 14 92703807 92748702 N Viable N Y 0.289375137 69.87324188 0.000974895 64.8 . . LGR6 1 202193901 202319781 N . N Y 0.003759245 49.7655843 4.09E-05 74.4 . . LGSN 6 63275951 63319977 N . N N 0.347637183 73.26503444 2.59E-07 84.8 . . LHB 19 49015980 49017090 N . N Y 0.955257371 92.09353476 0.065600109 45.5 DM Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3) LHCGR 2 48686775 48755730 N . N Y -0.258342977 31.98471957 2.80E-08 87.7 DM Precocious puberty, male, 176410 (3); Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3); Luteinizing hormone resistance, female, 238320 (3); Leydig cell adenoma, somatic, with precocious puberty, 176410 (3) LHFP 13 39342892 39603528 N . N N 0.06589658 54.61017538 0.463787542 31 . . LHFPL1 X 112630648 112680054 N . N N 0.375437469 74.69468079 0.070647458 45 . . LHFPL2 5 78485215 78770021 N . N Y 0.187858986 63.66846096 0.015014468 53.1 . . LHFPL3 7 104328656 104907232 N . N N . . 0.795069316 21.8 . . LHFPL4 3 9498361 9553802 N . N N -0.22208995 34.19575158 0.178387581 39.4 . . LHFPL5 6 35805293 35833874 N . N Y 0.090319161 56.46813683 0.494778073 30.1 DM Deafness, autosomal recessive 67, 610265 (3) LHPP 10 124461834 124617888 N . N N 0.23015724 66.25571569 1.60E-06 81.8 . . LHX9 1 197911902 197935478 N . N Y -0.184421636 36.49360421 0.941757643 15.5 . . LILRA1 19 54573879 54602090 N . N N 2.618506266 99.24755455 1.54E-16 97.7 . . LILRA2 19 54572920 54590287 N . N N 5.709631942 99.86687504 6.89E-12 94.4 . . LILRA4 19 54333185 54339150 N . N N 1.724003605 97.98576142 2.41E-12 94.9 . . LILRA5 19 54307070 54313139 N . N N -0.023988294 47.67610117 4.63E-08 87.1 . . LILRA6 19 54216868 54242800 N . N N 3.673825906 99.70480986 0.000155086 70.6 . . LILRB1 19 54617158 54700954 N . N N 4.062947602 99.79741853 9.91E-06 78.1 . . LILRB2 19 54238904 54281184 N . N N 3.545174008 99.6816577 7.83E-06 78.7 . . LILRB3 19 54216278 54223506 N . N Y 2.752514881 99.34016322 0.027760685 50.1 . . LILRB4 19 54643889 54670359 N . N Y 2.276697185 98.96972854 4.67E-08 87.1 . . LILRB5 19 54249431 54257301 N . N N 1.508286872 96.99600625 7.17E-12 94.4 . . LIM2 19 51379909 51387960 N . N N -0.361776472 26.25455808 0.000989157 64.7 DM Cataract 19, 615277 (3) LIMCH1 4 41359607 41700044 N . N N 0.03281494 52.05186086 0.999638379 4.8 . . LIMD1 3 45555394 45686338 N . N Y 0.019418972 51.05052961 0.127770681 41.6 . . LIMD2 17 63695902 63701172 N . N N 0.101498578 57.33634312 0.017630169 52.3 . . LIME1 20 63736283 63739103 N . N N . . 0.000332935 68.4 . . LIMK1 7 74082933 74122525 N . N Y -0.660792224 15.00839266 0.990896287 9.7 DM? . LIMK2 22 31212239 31280080 N . N Y -0.858601673 10.39532326 0.008440401 55.6 . . LIMS2 2 127638381 127681786 N . N Y -0.077465999 43.85599352 1.14E-05 77.7 . . LIMS3 2 109898428 109924868 N . N N . . . . . . LIMS3L 2 110446640 110473075 N . N N . . . . . . LIN28B 6 104957048 105083332 N . N Y -0.214586899 34.6414308 0.721962207 24 DFP . LIN37 19 35748361 35754519 N . N N 0.271349605 68.75614979 0.356935099 34 . . LIN52 14 74084796 74201235 N . N N 0.342555909 72.99878451 0.891966387 18.1 . . LIN54 4 82909973 83012926 N . N N -0.72560274 13.24303988 0.999433599 5.3 . . LIN7A 12 80792520 80937925 N . N Y -0.161108498 37.92903861 0.041148496 48.1 . . LIN7B 19 49114324 49118460 N . N Y -0.018550615 48.01759565 0.83883725 20.3 . . LIN7C 11 27494576 27506773 N . N Y -0.026053671 47.51982404 0.03006523 49.6 . . LINC00116 2 110211529 110245420 N . N N . . . . . . LINC00493 20 18567347 18569563 N . N N . . . . . . LINGO1 15 77613027 77820900 N . N Y -0.98071975 8.23059559 0.952116231 14.5 . . LINGO2 9 27948078 28670286 N . N N -1.319349969 4.572553105 0.807167304 21.4 DM? . LINGO3 19 2289784 2292024 N . N N -0.313886865 28.62186722 . . . . LINGO4 1 151800264 151806154 N . N N -0.235833932 33.32754529 0.002854097 60.6 . . LINS 15 100559369 100603230 N . N N 0.483802987 79.84603809 3.26E-05 75 DM . LIPA 10 89213569 89414557 N . N Y 0.012569811 50.44857325 0.011277804 54.4 DM Wolman disease, 278000 (3); Cholesteryl ester storage disease, 278000 (3) LIPC 15 58410569 58569843 N . N Y 0.457464994 78.67685362 0.000171127 70.3 DM [High density lipoprotein cholesterol level QTL 12], 612797 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Hepatic lipase deficiency, 614025 (3) LIPE 19 42401507 42427426 N Viable N Y 0.777706884 88.74804654 5.73E-09 89.5 DFP Lipodystrophy, familial partial, type 6, 615980 (3) LIPF 10 88664441 88678814 N . N N -0.344856099 27.00700353 0.000753525 65.7 . . LIPG 18 49560699 49599182 N . N Y 0.292245427 70.07003531 8.36E-05 72.4 DM . LIPH 3 185506262 185552613 N . N Y -0.303512836 29.281704 2.13E-06 81.2 DM [High density lipoprotein cholesterol level QTL 12], 612797 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Hepatic lipase deficiency, 614025 (3) LIPJ 10 88586753 88606976 N . N N 0.634519753 85.18261272 2.64E-07 84.7 FTV . LIPK 10 88724544 88752786 N . N N 0.822104421 89.58152457 1.19E-08 88.7 . . LIPM 10 88802730 88820546 N . N N . . 0.169253545 39.7 . . LIPN 10 88761406 88778242 N Viable N Y 0.511598665 80.93418996 1.71E-07 85.4 DM Ichthyosis, congenital, autosomal recessive 8, 613943 (3) LIPT1 2 99154955 99163157 N . N N -0.202298558 35.34178387 6.17E-05 73.3 . Lipoyltransferase 1 deficiency, 616299 (3) LIPT2 11 74491712 74493733 N . N N . . . . . . LITAF 16 11547722 11636381 N . N Y 0.035884366 52.28917057 0.313932119 35.3 DM Charcot-Marie-Tooth disease, type 1C, 601098 (3) LIX1 5 97091867 97142872 N . N N 0.052803966 53.57411588 0.016674688 52.6 . . LIX1L 1 145933423 145958001 N . N Y -0.260562407 31.82844244 0.116630314 42.3 . . LKAAEAR1 20 64083380 64084359 N . N N . . . . . . LL0XNC01-16G2.1 X 153317681 153321822 N . N N . . . . . . LLfos-48D6.2 19 2269525 2341172 N . N N . . . . . . LLPH 12 66116555 66130768 N . N N -0.08048891 43.56080338 0.341447375 34.5 . . LMAN1L 15 74812716 74825758 N Viable N Y 0.443263415 78.03438097 1.88E-09 90.6 . . LMAN2 5 177331562 177351852 N . N N -0.657116328 15.15309371 0.0500443 47 . . LMAN2L 2 96705929 96740064 N . N N -0.927391577 9.098801875 1.29E-07 85.8 . . LMBR1 7 156668946 156893230 N . N Y -0.644981042 15.53510447 0.000687936 66 DM Acheiropody, 200500 (3); Polydactyly, preaxial type II, 174500 (3); Triphalangeal thumb, type I, 174500 (3); Triphalangeal thumb-polysyndactyly syndrome, 174500 (3); Syndactyly, type IV, 186200 (3); Hypoplastic or aplastic tibia with polydactyly, 188740 (3); Laurin-Sandrow syndrome, 135750 (3) LMBR1L 12 49096551 49110900 N . N Y -0.187140168 36.325751 2.18E-06 81.1 . . LMBRD2 5 36098412 36151961 N . N N -0.73214908 13.11570296 0.014565218 53.3 . . LMCD1 3 8501707 8574673 N . N N 0.582953443 83.61405337 0.376043791 33.5 . . LMF2 22 50502949 50507691 N . N N 0.205386487 64.68715634 . . . . LMLN 3 197960200 198043720 N . N N -0.73678193 12.99415408 7.36E-06 78.8 . . LMNTD1 12 25409307 25648579 N . N N . . . . . . LMNTD2 11 554855 560779 N . N N . . . . . . LMO1 11 8224304 8268716 N . N Y -0.117047237 40.96776061 0.477078993 30.6 . Leukemia, T-cell acute lymphoblastic (2) LMO3 12 16548373 16610594 N . N Y -0.006414986 48.96104648 0.434209084 31.8 . . LMO7DN 13 75871038 75883811 N . N N . . . . . . LMOD1 1 201896452 201946588 N . N N 0.716248817 87.31261214 0.790872727 22 . . LMOD2 7 123655807 123664290 N . N N 0.126071509 59.22903282 0.004996303 58.1 . . LMOD3 3 69106872 69123032 N . N N 0.553091557 82.5548417 0.008058416 55.9 . Nemaline myopathy 10, 616165 (3) LMTK3 19 48485271 48513189 N . N N . . . . DM? . LNP1 3 100401193 100456319 N . N N 0.81636885 89.45997569 0.001885176 62.1 . . LNPEP 5 96935394 97037515 N . N Y -0.938273701 8.890432367 0.998308426 6.7 . . LNX1 4 53459301 53701405 N . N Y -0.021771814 47.80922614 0.007243627 56.5 . . LNX2 13 27545911 27620404 N . N N -0.211411415 34.85558835 0.215281596 38.3 DP . LOH12CR1 12 12357079 12469694 N . N N 0.302318539 70.64305146 0.021632085 51.3 . . LONP1 19 5691834 5720572 N . N N -0.080539029 43.52607513 0.999697933 4.6 . CODAS syndrome, 600373 (3) LONP2 16 48244296 48363122 N . N N -0.816449514 11.27510563 2.91E-16 97.6 . . LONRF1 8 12721894 12756073 N . N N -0.825060351 11.049372 0.919751764 16.7 . . LONRF2 2 100273291 100322733 N . N N -0.558617759 17.96608207 0.851045049 19.9 . . LONRF3 X 118974614 119018355 N Viable N Y -0.231353608 33.64009955 0.153377588 40.4 . . LOXHD1 18 46476972 46657033 N . N Y . . . . DM Deafness, autosomal recessive 77, 613079 (3) LOXL1 15 73925989 73952137 N Viable N Y 0.472169912 79.41193494 . . DP {Exfoliation syndrome, susceptibility to}, 177650 (3) LOXL2 8 23297189 23425328 N . N N -0.068552734 44.48689009 3.00E-07 84.5 DP . LOXL3 2 74532414 74555690 N . N N -0.474019054 21.27684204 5.65E-08 86.8 . . LOXL4 10 98247690 98268250 N . N N 1.065551516 93.56948544 2.14E-09 90.4 . . LPA 6 160531483 160664259 N . N N 1.941103126 98.46038085 2.44E-32 99.8 DM {Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3) LPAR2 19 19623668 19628930 N . N Y 0.223610811 65.85055276 0.337269897 34.6 . . LPAR3 1 84811602 84893213 N . N Y 0.005066824 49.89292122 0.786363329 22.1 . . LPAR5 12 6618835 6636447 N . N Y 0.021835061 51.22417086 0.029642921 49.7 . . LPAR6 13 48389567 48444704 N Viable N Y -0.164783496 37.74382127 0.030436524 49.6 DM Hypotrichosis 8, 278150 (3); Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3) LPCAT2 16 55508998 55586670 N . N N 0.008894044 50.22283961 1.13E-06 82.4 . . LPCAT3 12 6976186 7018510 N . N N -0.086882719 43.06881982 0.980678849 11.6 . . LPCAT4 15 34358618 34367278 N . N N -0.245402639 32.7487411 0.996222992 7.9 . . LPGAT1 1 211743457 211830772 N . N N -0.009133893 48.72373676 0.967547481 13.3 . . LPIN2 18 2916994 3013315 N Viable N Y -0.770327084 12.18961625 0.673512975 25.4 DM Majeed syndrome, 609628 (3) LPIN3 20 41340920 41360582 N Viable N Y 1.477477965 96.86288129 4.44E-11 93.5 DM . LPO 17 58218548 58268518 N Viable N Y -0.601573654 16.66377265 2.91E-11 93.7 . . LPPR2 19 11355386 11365698 N . N N -0.403923475 24.17665104 . . . . LPPR3 19 812488 821977 N . N N . . 0.056279308 46.3 . . LPPR5 1 98890245 99005032 N . N N -0.528759206 19.07738612 0.959898117 13.9 . . LPXN 11 58526871 58578220 N . N N 0.233027146 66.41199282 0.017200443 52.4 . . LRAT 4 154626945 154753118 N . N Y 0.120331361 58.7428373 0.096962506 43.4 DM Retinal dystrophy, early-onset severe, 613341 (3); Leber congenital amaurosis 14, 613341 (3); Retinitis pigmentosa, juvenile, 613341 (3) LRBA 4 150264531 151015727 N . N N -0.716581471 13.4803496 0.044229437 47.7 DM Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) LRCH1 13 46553168 46753040 N . N N -0.068854605 44.475314 0.982396864 11.4 DP . LRCH2 X 115110616 115234072 N . N N . . 0.915538079 17 . . LRCH3 3 197791226 197888436 N . N N 0.253925617 67.70272617 1.20E-08 88.7 . . LRCH4 7 100574011 100586153 N . N N -1.002126797 7.83700874 0.000176443 70.2 . . LRCOL1 12 132603150 132610543 N . N N . . . . . . LRFN1 19 39306568 39315336 N . N N -0.854116945 10.49371997 0.830755525 20.6 . . LRFN2 6 40391586 40587465 N Viable N Y -0.918630336 9.243502923 0.117460637 42.3 . . LRFN3 19 35935358 35945767 N Viable N Y -0.778932369 12.04491521 0.860302996 19.5 . . LRFN4 11 66856647 66860475 N . N N -0.401052411 24.3502923 0.942092245 15.4 . . LRFN5 14 41607570 41904549 N . N N -0.76870886 12.24170863 0.712324783 24.3 DM? . LRG1 19 4536409 4540474 N . N N 0.66835895 86.17236789 3.42E-05 74.9 . . LRGUK 7 134127299 134264591 N . N N 1.278534082 95.63002836 1.92E-08 88.2 DM? . LRIF1 1 110947185 110964079 N . N N -0.74891881 12.67581177 0.000245001 69.2 . . LRIG1 3 66378797 66501263 N . N Y 1.253672672 95.46796319 0.835793558 20.4 . . LRIG2 1 113073209 113132260 N . N Y -0.302107062 29.34537246 3.29E-12 94.8 DM Urofacial syndrome 2, 615112 (3) LRIG3 12 58872149 58920522 N . N Y -0.486965882 20.69803785 0.426287753 32.1 . . LRIT1 10 84231593 84241461 N . N N 0.493066458 80.1933206 2.92E-08 87.7 . . LRIT2 10 84220495 84225589 N . N N 0.411489443 76.41372924 1.83E-09 90.6 . . LRIT3 4 109848202 109872315 N . N N 0.456356165 78.6189732 2.23E-08 88 DM Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3) LRMP 12 25021002 25108334 N . N N 0.228394221 66.13995485 0.020912707 51.4 . . LRP10 14 22871613 22881580 N . N N -0.698160609 13.98390924 0.000211411 69.7 . . LRP11 6 149818798 149864026 N . N N 0.155126864 61.40533657 0.100969715 43.1 . . LRP12 8 104489231 104589024 N . N N -1.155071428 6.036927707 0.969751549 13 . . LRP2BP 4 185363879 185395899 N . N N 0.049127994 53.35995833 1.10E-06 82.4 . . LRP3 19 33177603 33208867 N . N N -0.323000284 28.07779128 0.039236654 48.4 . . LRP5L 22 25351418 25405377 N . N N 1.159916575 94.63448515 3.87E-11 93.5 . . LRP8 1 53242364 53328070 N . N Y -0.314540604 28.57556289 0.99998576 2.7 DP {Myocardial infarction, susceptibility to}, 608446 (3) LRR1 14 49598697 49614672 N . N N 0.05199832 53.51623546 8.61E-07 82.8 . . LRRC1 6 53794497 53924121 N . N N 0.016397017 50.77270359 0.573184205 28.2 . . LRRC10 12 69608564 69611162 N . N Y 0.086643016 56.19609886 0.009191766 55.3 . . LRRC10B 11 61508800 61511018 N . N N . . . . . . LRRC14 8 144517992 144525178 N . N N -1.055756275 7.130867627 0.006652734 56.8 . . LRRC14B 5 191511 195353 N . N N 0.952533561 92.05301846 3.31E-09 90 . . LRRC15 3 194355247 194369743 N Viable N Y 0.921865474 91.53788273 1.36E-06 82.1 . . LRRC16A 6 25279078 25620530 N . N N -0.184925748 36.45887596 0.502318842 29.9 . . LRRC16B 14 24052000 24069728 N . N N -1.224118901 5.365514846 4.87E-05 74 . . LRRC17 7 102912991 102944949 N . N N -0.08305528 43.36400996 6.64E-08 86.6 . . LRRC18 10 48909483 48935190 N . N N 0.422517211 76.9751693 0.000124173 71.2 . . LRRC19 9 26993136 27005693 N . N N 0.649526336 85.59935174 5.17E-05 73.8 . . LRRC2 3 46515423 46580099 N Viable N Y 1.239591998 95.36956648 4.77E-05 74 . . LRRC20 10 70298970 70382650 N . N N -0.023183121 47.73398159 0.136831661 41.2 . . LRRC23 12 6873569 6914243 N . N N 0.264952627 68.37992707 0.000915909 65.1 . . LRRC24 8 144522377 144527032 N . N N -0.200384589 35.4691208 0.775315502 22.4 . . LRRC25 19 18391144 18397617 N . N N 0.7751713 88.66701395 0.943472206 15.4 . . LRRC26 9 137168758 137170051 N . N N . . 0.028439438 50 . . LRRC27 10 132332154 132379918 N . N N 1.040964966 93.28008335 9.75E-14 96.1 . . LRRC28 15 99251362 99390729 N . N N -0.356034079 26.53238409 8.60E-05 72.3 . . LRRC29 16 67207139 67227048 N . N N 0.626870269 84.96845517 0.007203759 56.5 DM? . LRRC3 21 44455486 44462196 N . N N -0.192881585 36.00162065 0.006456948 56.9 . . LRRC30 18 7231125 7232047 N . N N -0.228482701 33.83110494 2.19E-08 88 . . LRRC31 3 169839179 169869930 N . N N 0.70970233 87.11581872 5.24E-06 79.5 . . LRRC32 11 76657524 76670747 N . N N 0.379716921 74.90883834 0.021575526 51.3 . . LRRC34 3 169793428 169812986 N . N N 0.225524115 65.99525381 5.89E-07 83.5 FTV . LRRC36 16 67326798 67385203 N . N N -0.128878445 40.18058691 3.63E-10 92 . . LRRC37A 17 46292733 46337794 N . N N . . 0.890487356 18.2 . . LRRC37A2 17 46511511 46555650 N . N N . . . . . . LRRC37A3 17 64854312 64919480 N . N N 1.290833903 95.71106095 . . . . LRRC37B 17 32007872 32053504 N . N N 0.125570254 59.15957632 0.948665375 14.9 . . LRRC38 1 13474977 13514048 N . N N . . . . . . LRRC39 1 100148449 100178273 N . N N 0.352119595 73.52549632 0.039707461 48.4 . . LRRC3B 3 26622806 26710776 N . N N -0.163022609 37.81906581 0.228541146 37.7 . . LRRC3C 17 39941474 39944747 N . N N . . . . . . LRRC4 7 128027071 128032107 N . N Y -0.802399101 11.50662731 0.877360672 18.7 DM . LRRC40 1 70144805 70205620 N . N N 0.840130127 90.01562771 2.65E-19 98.5 . . LRRC41 1 46261196 46303608 N . N N -0.864339828 10.29692655 0.999804641 4.3 DM? . LRRC42 1 53946077 53968168 N . N N -0.241574879 32.93395844 1.67E-06 81.7 . . LRRC43 12 122167738 122203471 N . N N 0.808356587 89.29212247 6.70E-14 96.3 . . LRRC45 17 82023302 82031151 N . N N -0.64402392 15.57562077 3.15E-06 80.5 . . LRRC46 17 47831627 47837713 N . N N 0.199188423 64.32250969 0.000135433 71 . . LRRC47 1 3778558 3796504 N . N N -0.506095743 19.97453262 0.603832188 27.4 . . LRRC48 17 17972813 18016889 N . N N 0.415164716 76.6163107 6.09E-06 79.2 . . LRRC49 15 70853239 71053657 N . N N -0.267759536 31.40012734 0.446510312 31.5 . . LRRC4B 19 50516892 50568045 N . N N -1.07922423 6.800949239 0.297156811 35.8 . . LRRC4C 11 40114203 41459773 N . N Y -0.613054008 16.39173468 0.953730869 14.4 . . LRRC52 1 165544007 165563961 N . N N 0.202058361 64.50772704 0.001329071 63.6 . . LRRC53 1 74469878 74512614 N . N N . . . . . . LRRC55 11 57181747 57191717 N . N N -0.659987499 15.04312091 0.677224186 25.3 . . LRRC56 11 537527 554916 N . N N 1.080398324 93.75470278 0.000110646 71.5 . . LRRC57 15 42537820 42548802 N . N N -0.002587674 49.23887249 0.00068689 66 . . LRRC58 3 120324509 120349339 N . N N 0.064939857 54.54650692 0.019132693 51.9 . . LRRC59 17 50375059 50397553 N . N N -0.015680094 48.2317532 0.482144865 30.5 . . LRRC6 8 132571953 132675617 N . N N 0.394417992 75.55131099 8.30E-08 86.3 DM Ciliary dyskinesia, primary, 19, 614935 (3) LRRC61 7 150322639 150338150 N . N N 0.21610777 65.42223766 0.005195551 57.9 . . LRRC63 13 46211943 46277366 N . N N . . . . . . LRRC66 4 51993702 52017620 N . N N -0.28901326 30.1383342 9.28E-14 96.1 . . LRRC69 8 91101832 91219236 N . N N . . . . DM? . LRRC7 1 69568398 70151945 N . N Y -2.13156432 1.400706141 0.999998533 1.8 . . LRRC70 5 62578735 62581448 N . N N . . . . . . LRRC71 1 156920650 156933094 N . N N . . 0.009049218 55.3 . . LRRC72 7 16526880 16581568 N . N N . . . . . . LRRC73 6 43506969 43510686 N . N N -0.227678773 33.88319731 0.635116133 26.5 . . LRRC74A 14 76826372 76870302 N . N N . . . . . . LRRC74B 22 21045960 21064168 N . N N . . . . . . LRRC75A 17 16441577 16492153 N . N N . . . . . . LRRC75B 22 24585620 24593208 N . N N . . . . . . LRRC8A 9 128882112 128918039 N . N N -1.342674255 4.375759681 0.916104676 17 DM Agammaglobulinemia 5, 613506 (3) LRRC8B 1 89524836 89597864 N . N N -1.109239253 6.447878683 0.806424943 21.4 . . LRRC8C 1 89633072 89769903 N . N N 0.021181046 51.1605024 0.016527923 52.7 . . LRRC8D 1 89821014 89936611 N . N N -0.958208997 8.606818313 0.868441355 19.1 . . LRRC8E 19 7888505 7902021 N . N N 0.346030702 73.18978989 0.000781502 65.6 . . LRRC9 14 59919713 60063559 N . N N . . . . . . LRRCC1 8 85107147 85146076 N . N N 1.127498258 94.2814146 5.40E-19 98.4 . . LRRD1 7 92112159 92179531 N . N N . . . . . . LRRFIP1 2 237627576 237813682 N . N N -0.054352659 45.48822133 0.36551249 33.8 . . LRRFIP2 3 37052656 37183689 N . N N 0.054063388 53.63778434 4.80E-08 87 . . LRRIQ1 12 85036314 85263224 N . N N 0.332621519 72.44892053 6.85E-19 98.4 . . LRRIQ3 1 74026015 74198187 N . N N 1.343034388 96.0641315 3.22E-15 97 . . LRRIQ4 3 169821922 169837775 N . N N 0.482692587 79.834462 0.001685548 62.5 . . LRRK1 15 100919215 101078254 Y Viable N Y -0.819233031 11.19986109 1.59E-05 76.9 . . LRRN1 3 3799437 3847703 N . N Y -0.732955602 13.06939862 0.876589037 18.8 . . LRRN2 1 204617170 204685733 N . N Y -0.216044341 34.51988192 0.22078125 38 . . LRRN3 7 111091006 111125454 N . N Y -0.624232756 16.02708804 0.68645235 25 . . LRRN4 20 6040778 6054049 N . N Y 0.241638002 66.97922093 1.45E-08 88.5 . . LRRN4CL 11 62686402 62689899 N . N N 0.0077858 50.10707878 5.44E-05 73.7 . . LRRTM1 2 80288351 80304749 N . N Y -0.393549347 24.76703131 0.951075573 14.6 . . LRRTM2 5 138868923 138875368 N . N N -0.442395976 22.60809168 0.923558762 16.5 . . LRRTM3 10 66926006 67099830 N Viable N Y -0.478954353 21.04532037 0.852645121 19.8 . . LRRTM4 2 76747719 77593319 N . N Y -0.780040126 12.00439891 0.748069164 23.2 . . LRSAM1 9 127451486 127503501 N . N N 0.303729111 70.73566013 2.93E-05 75.3 DM Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3) LRTM1 3 54918237 54967088 N . N N 0.348442859 73.32291486 5.25E-09 89.5 . . LRTM2 12 1820267 1836752 N . N N -0.235985706 33.32175725 0.739704571 23.5 . . LRTOMT 11 72080331 72110782 N . N N . . 0.014564264 53.3 DM Deafness, autosomal recessive 63, 611451 (3) LRWD1 7 102464929 102473168 N . N N -0.178529231 36.81194652 2.02E-07 85.1 . . LSAMP 3 115802363 117139389 N . N Y -0.219218665 34.36360479 0.946283747 15.1 . . LSG1 3 194640788 194672477 N . N N 0.927454043 91.66521966 6.59E-07 83.2 . . LSM12 17 44034635 44067619 N . N N 0.032057299 51.99976848 0.931681763 16 . . LSM14B 20 62122461 62135378 N . N N -0.253862657 32.21624125 0.96722748 13.3 . . LSM2 6 31797396 31806984 N . N N 0.015137522 50.6627308 0.005962817 57.3 . . LSM3 3 14178358 14201119 N . N N -0.15743371 38.19528853 2.77E-05 75.4 . . LSM5 7 32485332 32495283 N . N N 0.129597795 59.37952191 0.018231933 52.1 . . LSM6 4 146175685 146200000 N . N N 0.151150685 61.04647798 0.868075946 19.1 . . LSM7 19 2321517 2328620 N . N N . . 0.281731307 36.2 . . LSM8 7 118184032 118192824 N . N N . . . . . . LSMEM1 7 112480853 112491062 N . N N -0.027010532 47.48509579 0.005194861 57.9 . . LSMEM2 3 50279027 50288114 N . N N 0.339834225 72.85987151 2.89E-05 75.3 . . LSP1 11 1852970 1892267 N . N Y 0.09510276 56.80384326 0.259641696 36.8 . . LST1 6 31586124 31588909 N Viable N Y 0.548012863 82.36383631 0.002537915 61.1 . Hyperbilirubinemia, Rotor type, digenic, 237450 (3) LTA 6 31572054 31574324 N Viable N Y 0.442966544 78.02280489 0.743246562 23.3 DFP {Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3); {Leprosy, susceptibility to, 4}, 610988 (3) LTA4H 12 96000828 96043520 N Viable N Y -0.961079954 8.531573769 0.049421819 47.1 . . LTB 6 31580525 31582522 N . N Y 0.014332026 50.57012213 1.01E-05 78 . . LTB4R 14 24311450 24318036 N . N Y -0.272697012 31.12808937 0.677367973 25.3 . . LTB4R2 14 24305734 24312053 N . N Y 0.856899996 90.31660589 0.000267453 69 . . LTBP3 11 65538560 65558930 N . N Y -0.8801563 9.943855994 0.996034359 7.9 DM Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3); Weill-Marchesani syndrome 3, recessive, 614819 (3) LTBR 12 6375045 6391571 N . N Y -0.101888702 42.01539619 0.42868315 32 . . LTC4S 5 179793980 179796647 N . N Y 0.002044933 49.63824738 0.002169106 61.6 DM Leukotriene C4 synthase deficiency, 614037 (1) LTF 3 46435645 46485234 N . N Y 1.37512779 96.25513689 1.76E-13 95.9 DFP . LTK 15 41503638 41513887 N . N N 0.920108871 91.50315448 4.12E-21 98.9 DP . LTV1 6 143843344 143863812 N . N N -0.068049328 44.53319442 2.05E-05 76.2 . . LUC7L 16 188969 229463 N . N N 0.004110017 49.83504081 0.164212797 40 DM? . LUC7L2 7 139341360 139422599 N . N N -0.242684848 32.87607802 0.590287986 27.7 . . LUC7L3 17 50719544 50756213 N . N N 0.107238638 57.76465822 0.999974251 3 . . LUM 12 91102629 91111831 N . N Y -0.219218665 34.36360479 0.101924741 43 DM? . LURAP1 1 46203334 46221261 N . N N 0.022791848 51.2704752 0.220934119 38 . . LURAP1L 9 12775021 12822131 N . N N 0.326740798 72.14794235 0.076624269 44.7 . . LUZP2 11 24496970 25082631 N . N Y 0.057587761 53.92139839 8.71E-05 72.3 DM? . LUZP4 X 115289727 115307556 N . N N 0.425238096 77.10250622 0.000221317 69.5 DM? . LUZP6 7 135927274 135927450 N . N N . . . . . . LVRN 5 115962454 116027619 N . N N . . . . . . LXN 3 158645822 158672693 N . N Y 0.999324262 92.74758349 0.003620445 59.5 . . LY6D 8 142784880 142786592 N . N N 0.30599617 70.83405684 0.000620135 66.3 . . LY6G5B 6 31670167 31673776 N . N N 0.438331876 77.80285929 0.000871194 65.2 . . LY6G5C 6 31676684 31684040 N . N N 0.267523946 68.51884008 0.614670423 27.1 . . LY6G6C 6 31718648 31721845 N . N N 0.328505738 72.23476298 0.001652695 62.7 . . LY6G6D 6 31715356 31717804 N . N N 0.715955704 87.28945998 0.542857604 28.8 . . LY6G6E 6 31711771 31714065 N . N N . . . . . . LY6G6F 6 31706885 31710595 N . N N 1.14012811 94.43769173 2.56E-06 80.8 DM? . LY6H 8 143157914 143160711 N . N N -0.065482771 44.7241998 0.460605569 31.1 . . LY6K 8 142700111 142705127 N . N N 0.187858986 63.66846096 0.000583632 66.5 . . LY75 2 159803355 159904749 N . N Y -0.720951317 13.37616484 3.63E-27 99.5 . . LY75-CD302 2 159771851 159904710 N . N N -0.913215259 9.32453551 3.63E-27 99.5 . . LY86 6 6588108 6654983 N . N Y 0.605316196 84.29125427 9.98E-06 78.1 . . LY9 1 160796074 160828261 N . N Y 1.021326834 93.05434971 4.14E-10 91.9 . . LY96 8 73991352 74029087 N . N Y -0.064525847 44.79365631 2.41E-06 80.9 DM . LYAR 4 4267701 4290169 N . N N 0.499461757 80.4422064 0.000132449 71.1 . . LYG1 2 99284238 99304742 N . N N 0.28635585 69.71117671 0.000104428 71.7 . . LYG2 2 99242246 99255282 N . N N 0.090319161 56.46813683 5.77E-06 79.3 . . LYL1 19 13099033 13103161 N . N Y . . 0.672721211 25.4 . Leukemia, T-cell acute lymphoblastoid (2) LYN 8 55879813 56014168 N . N Y -0.989334973 8.028014123 0.995480464 8.2 FTV . LYNX1 8 142764334 142778224 N . N Y 0.288268772 69.80378538 0.110678246 42.6 . . LYPD1 2 132644853 132671579 N . N Y 0.026467762 51.52514904 0.000238591 69.2 . . LYPD2 8 142750150 142752534 N . N N . . 0.063302205 45.7 . . LYPD4 19 41837074 41844697 N . N N 0.099735608 57.19164207 3.41E-05 74.9 . . LYPD5 19 43795929 43827206 N . N N 0.066853307 54.65069167 9.45E-05 72.1 . . LYPD6B 2 149038107 149215262 N Viable N Y 0.096865517 56.89645193 0.001033508 64.6 . . LYPD8 1 248718649 248755739 N . N N . . . . . . LYPLA1 8 54046367 54102017 N . N N 0.307908866 70.93824159 0.008494426 55.6 . . LYPLA2 1 23790970 23795539 N . N N -0.320586962 28.25722058 0.979519145 11.8 . . LYPLAL1 1 219173844 219212865 N Viable N Y 0.449660369 78.35272327 3.45E-08 87.4 . . LYRM1 16 20899868 20925006 N . N N 0.079946001 55.69832726 1.79E-05 76.5 . . LYRM2 6 89568144 89638753 N . N N 0.184032836 63.46009145 0.059681335 46 . . LYRM4 6 5102593 5260939 N . N N . . 0.04025804 48.3 DFP ?Combined oxidative phosphorylation deficiency 19, 615595 (3) LYRM5 12 25195216 25209645 N . N N 0.319090009 71.70805117 0.00088717 65.2 . . LYRM7 5 131170810 131205426 N . N N 0.007634404 50.08971465 0.013501999 53.7 . ?Mitochondrial complex III deficiency, nuclear type 8, 615838 (3) LYRM9 17 27878314 27894752 N . N N 0.622091168 84.80060196 0.045000307 47.6 . . LYSMD1 1 151159748 151165948 N . N N 0.05935026 54.0603114 0.181950236 39.2 . . LYSMD2 15 51723011 51751585 N . N N 0.548012863 82.36383631 0.256648624 36.9 . . LYSMD3 5 90515611 90529584 N . N N 1.002191365 92.79388783 0.77181509 22.6 . . LYSMD4 15 99715697 99733561 N . N N 0.966584727 92.26717601 1.73E-05 76.7 . . LYST 1 235661041 235883640 N Viable N Y -1.030808084 7.460786016 0.999978423 2.9 DM Chediak-Higashi syndrome, 214500 (3) LYVE1 11 10556966 10611689 N . N Y 0.595090612 83.99027609 4.22E-07 84 . . LYZ 12 69348341 69354234 N . N Y 0.594944888 83.97870001 0.001375517 63.5 DM Amyloidosis, renal, 105200 (3) LYZL1 10 29289061 29318328 N . N N 0.562208663 82.80951554 0.048695746 47.2 . . LYZL2 10 30611779 30629762 N . N N 1.14012811 94.43769173 3.26E-06 80.4 . . LYZL4 3 42397078 42410600 N . N N 0.162480005 61.94941251 0.112282902 42.5 . . LYZL6 17 35934518 35943699 N . N N 0.367934269 74.27215373 7.45E-05 72.8 . . LZIC 1 9922113 9943407 N . N N -0.049519725 45.82392777 0.001979247 61.9 . . LZTFL1 3 45823316 45916042 N . N N 0.216914842 65.45696591 0.19410281 38.9 DM Bardet-Biedl syndrome 17, 615994 (3) LZTS1 8 20246165 20303963 N . N Y -0.005960414 49.03050298 0.525971473 29.3 DP Esophageal squamous cell carcinoma, 133239 (3) LZTS2 10 100996618 101007836 N . N Y 0.51653284 81.12519535 0.875482096 18.8 . . LZTS3 20 3162617 3173592 N . N N -0.499549597 20.20605429 0.875742311 18.8 . . M1AP 2 74557883 74648338 N . N N -0.458206381 21.95404295 5.83E-12 94.6 . . MAATS1 3 119703022 119767102 N . N N 0.985724572 92.60867049 9.78E-10 91.1 . . MAB21L1 13 35474182 35477209 N . N Y -0.702290312 13.85078428 0.367416502 33.7 . . MAB21L3 1 116111755 116135240 N . N N 0.857856534 90.32818198 0.000490219 67.1 . . MACC1 7 20134655 20217404 N . N N 1.565611848 97.29698443 7.56E-17 97.7 DM? . MACROD1 11 63998558 64166106 N . N N -0.195752553 35.7874631 0.006624769 56.8 . . MACROD2 20 13995369 16053197 N Viable N Y 0.582953443 83.61405337 0.011356747 54.4 DM . MAD2L1BP 6 43629540 43640952 N . N N 0.334243918 72.52995312 0.00824444 55.7 . . MADCAM1 19 489176 505342 N . N Y . . 0.428374924 32 . . MAEL 1 166975582 167022214 N . N N -0.511838334 19.74301094 0.021254638 51.3 . . MAF1 8 144104499 144107611 N . N N -0.25960522 31.89789894 0.79402458 21.9 . . MAFA 8 143419182 143430406 N . N Y . . . . . . MAFF 22 38200767 38216511 N . N Y . . 0.042201122 48 . . MAFK 7 1530714 1543043 N . N N . . 0.557286406 28.5 . . MAG 19 35292125 35313804 N Viable N Y -0.377435075 25.60629739 0.540766817 28.9 . . MAGEA1 X 153179285 153183880 N . N N 0.536830287 81.94130926 0.369816631 33.6 . . MAGEA10 X 152133310 152138578 N . N N 1.08568913 93.79521908 0.305621879 35.6 . . MAGEA11 X 149688228 149717266 N . N N 0.684174168 86.52543844 0.594544547 27.6 . . MAGEA12 X 152733779 152737669 N . N N 0.883088819 90.78543729 0.700103439 24.6 . . MAGEA2 X 152749863 152753884 N . N N . . . . . . MAGEA2B X 152714586 152718607 N . N N . . . . . . MAGEA3 X 152698752 152702347 N . N N 1.25555613 95.47953927 0.373340459 33.5 . . MAGEA4 X 151912509 151925170 N . N N 0.975044523 92.37136077 0.744658643 23.3 . . MAGEA6 X 152766136 152769747 N . N N 0.967540858 92.27296406 0.094196105 43.5 . . MAGEA8 X 149881141 149885835 N . N N 0.779806888 88.78277479 0.238209592 37.4 . . MAGEA9 X 149781930 149787737 N . N N . . . . . . MAGEA9B X 149581653 149587453 N . N N . . . . . . MAGEB1 X 30243730 30252038 N . N N -0.05223834 45.61555826 0.070133898 45.1 . . MAGEB10 X 27807990 27823014 N . N N 0.718823127 87.39364473 0.710701864 24.3 . . MAGEB16 X 35798342 35803735 N . N N 0.672846598 86.25918852 0.001663682 62.6 . . MAGEB17 X 16167481 16171464 N . N N . . 0.028436273 50 . . MAGEB18 X 26138343 26140735 N . N N 0.240380673 66.89818834 0.040371281 48.3 . . MAGEB2 X 30215560 30220089 N . N N 0.370803213 74.41685478 0.006479817 56.9 . . MAGEB3 X 30230436 30237492 N . N N 0.544333577 82.21334722 0.661352679 25.7 . . MAGEB4 X 30242052 30244193 N . N N 0.310778106 71.09451872 0.255054608 36.9 . . MAGEB5 X 26216169 26218270 N . N N . . 0.114589766 42.4 . . MAGEB6 X 26192440 26195646 N . N N 0.826886131 89.70886149 0.386744087 33.1 . . MAGEB6P1 X 26160601 26161824 N . N N . . . . . . MAGEC1 X 141903894 141909388 N . N N 8.18631223 99.94211958 . . DP . MAGEC2 X 142202345 142205290 N . N N -0.550311326 18.19760375 0.659070497 25.8 . . MAGEC3 X 141838316 141897832 N . N N 0.173154201 62.77710251 3.25E-08 87.5 DM? . MAGED1 X 51803007 51902357 N . N Y -0.152495841 38.53678301 0.982074597 11.4 . . MAGED2 X 54807599 54816012 N . N N 0.172852824 62.72501013 0.989729719 10 . . MAGED4 X 52184823 52192268 N . N N . . . . . . MAGED4B X 52061827 52069248 N . N N . . . . . . MAGEE1 X 76427724 76431353 N . N N 0.167564929 62.36036349 0.699601223 24.6 . . MAGEE2 X 75782988 75785236 N . N N 0.843806232 90.08508422 1.53E-08 88.4 FTV . MAGEF1 3 184710367 184712002 N . N N 0.837111437 89.94617121 0.034031466 49.1 . . MAGEH1 X 55452105 55453566 N . N N -0.269022695 31.31330671 0.338067799 34.6 . . MAGI1 3 65353525 66038834 N . N N -1.923938495 1.834809284 0.999615675 4.9 DM . MAGI3 1 113390749 113685923 N . N N -1.937353449 1.811657116 0.570580157 28.2 . . MAGIX X 49162564 49168483 N . N N 0.663431417 86.02766684 0.003592186 59.6 . . MAGOHB 12 10604190 10613623 N . N N -0.119918286 40.73045089 0.041782997 48.1 . . MAGT1 X 77826364 77895593 N . N N 0.217871355 65.53221045 0.887373876 18.3 DM Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3) MAK 6 10762723 10838555 N . N Y -0.168306934 37.48914742 9.63E-11 93 DM Retinitis pigmentosa 62, 614181 (3) MAK16 8 33484750 33501260 N . N N -0.164783496 37.74382127 0.993980456 8.9 . . MAL 2 95025677 95053996 N . N Y 0.033970832 52.15025757 0.786079025 22.1 . Megakaryoblastic leukemia, acute (3) MAL2 8 119165034 119245673 N . N N . . 0.458862108 31.1 . . MALAT1 11 65502034 65503622 N . N Y . . . . . . MALL 2 110083870 110116566 N . N N . . 0.201463447 38.7 . . MALRD1 10 19048771 19790401 N . N N . . . . . . MALSU1 7 23298739 23311729 N . N N 0.146667159 60.78022805 1.78E-08 88.3 . . MALT1 18 58671386 58754477 N . N Y -0.180594035 36.70776176 0.994144578 8.8 DM Immunodeficiency 12, 615468 (3) MAMDC2 9 70043581 70226970 N . N N 0.485563343 79.92128263 0.004171475 58.9 . . MAMDC4 9 136850943 136860799 N . N N 2.833190656 99.39804364 2.60E-35 99.8 . . MAML2 11 95976598 96343180 N . N N 0.489547433 80.07755976 0.998525114 6.5 . Mucoepidermoid salivary gland carcinoma (3) MAML3 4 139716753 140154184 N . N Y 0.665952246 86.10291139 0.329895048 34.9 . . MAMLD1 X 150361422 150514178 N . N N 0.187203344 63.63952075 0.840109495 20.3 DM Hypospadias 2, X-linked, 300758 (3) MAMSTR 19 48712742 48719721 N Viable N Y -0.212672702 34.75719164 0.001233258 63.9 . . MAN1A1 6 119177209 119349761 N . N N -0.292182226 29.87787232 0.803866877 21.5 . . MAN1B1 9 137086927 137109187 N . N N 0.040166042 52.56699659 2.63E-06 80.7 DM Mental retardation, autosomal recessive 15, 614202 (3) MAN1C1 1 25617468 25786207 N . N N -0.623275987 16.07339237 0.04904804 47.1 . . MAN2A1 5 109689366 109869625 N . N Y -0.971834916 8.357932511 0.018644433 52 . . MAN2A2 15 90902218 90922584 N . N Y -0.912625941 9.341899635 3.61E-09 89.9 FTV . MAN2B1 19 12646511 12666742 N . N Y 0.644400409 85.48937894 1.56E-12 95.1 DM Mannosidosis, alpha-, types I and II, 248500 (3) MAN2B2 4 6575175 6623362 N Viable N Y 2.710165779 99.3227991 4.36E-18 98.2 . . MAN2C1 15 75355207 75368630 N . N Y -0.180951479 36.67303351 2.94E-25 99.4 . . MANBA 4 102631488 102760994 N . N Y 0.07017815 54.90536551 1.15E-11 94.2 DM Mannosidosis, beta, 248510 (3) MANBAL 20 37289638 37317260 N . N N 0.290033479 69.90218209 0.16924055 39.7 . . MANEA 6 95577543 95609457 N . N N 0.622382754 84.82375412 0.000414997 67.6 . . MANEAL 1 37793802 37801137 N . N N 0.430976902 77.46136482 0.004389044 58.7 . . MANF 3 51385047 51389397 N . N N 0.207498734 64.86658563 0.327002524 35 . . MANSC1 12 12326056 12350541 N . N N 0.524841114 81.43196157 0.000352736 68.2 DM? . MANSC4 12 27762738 27771276 N . N N . . . . . . MAOA X 43654907 43746824 N . N N -0.121679336 40.63205418 0.993222491 9.1 DM Brunner syndrome, 300615 (3) MAOB X 43766611 43882447 N . N Y 0.169176254 62.44718412 0.970339617 13 DFP . MAP10 1 232804892 232808407 N . N N 0.701714561 86.93060138 1.29E-14 96.6 . . MAP1A 15 43510958 43531620 N . N N -0.003641254 49.12311165 0.999688998 4.7 . . MAP1LC3A 20 34546854 34560345 N . N N -0.013918082 48.39381837 0.739731535 23.5 . . MAP1LC3B 16 87383995 87404779 N . N Y 0.442010439 77.98228859 0.061760877 45.8 DM . MAP1LC3B2 12 116548105 116576448 N . N N 0.534918128 81.86027667 0.023705685 50.8 . . MAP1LC3C 1 241995490 241999073 N . N N 0.011461629 50.36754066 0.000381762 67.9 . . MAP1S 19 17719242 17734516 N . N Y -0.408255186 24.01458587 0.637852411 26.4 . . MAP2 2 209424058 209734118 N . N Y -2.0336989 1.568559356 0.999983365 2.7 DM . MAP2K2 19 4090321 4124129 N . N Y -0.209801572 34.94819702 0.863261159 19.4 DM Cardiofaciocutaneous syndrome 4, 615280 (3) MAP2K3 17 21284672 21315240 N . N Y 1.682648711 97.85263645 0.000496053 67.1 DM . MAP2K6 17 69414698 69543331 N . N Y -0.214586899 34.6414308 0.951049684 14.6 . . MAP3K10 19 40191744 40215575 N Viable N Y -0.986309891 8.109046709 0.792721034 21.9 . . MAP3K13 3 185282941 185489097 N . N N -0.581785888 17.33518551 0.966849138 13.4 . . MAP3K14 17 45263121 45317040 N . N Y . . . . . . MAP3K15 X 19360056 19515261 N . N N . . 1.01E-28 99.6 DM? . MAP3K19 2 134964491 135047468 N . N N 0.88659089 90.87225792 3.70E-14 96.4 . . MAP3K2 2 127298730 127388465 N . N Y -0.616882625 16.28176188 0.999560917 5 . . MAP3K5 6 136557047 136792518 N . N Y -1.85860355 2.014238583 0.995107743 8.4 . . MAP3K6 1 27355184 27366892 N . N Y 0.049887589 53.37732245 4.91E-15 96.9 . . MAP3K7CL 21 29077471 29175889 N . N N 0.307908866 70.93824159 0.002265389 61.5 . . MAP3K8 10 30433937 30461833 Y Viable N Y -0.683454413 14.42958847 0.870951295 19 . Lung cancer, somatic, 211980 (3) MAP3K9 14 70722526 70809534 N . N Y -0.762682675 12.34589338 0.923395179 16.5 . . MAP4 3 47850690 48089272 N . N N -0.321748239 28.15882387 0.998848724 6.1 DM? . MAP4K1 19 38587641 38618882 N . N Y -0.274305776 31.04126874 0.991409179 9.6 . . MAP4K2 11 64784914 64803241 N . N N -0.15697692 38.23580483 6.48E-05 73.2 . . MAP4K3 2 39249266 39437312 N . N N -0.828587586 10.99149158 0.804701046 21.5 . . MAP4K5 14 50418501 50561126 N . N Y . . 0.944269982 15.3 DP . MAP6D1 3 183815876 183825594 N . N N . . 0.051828003 46.8 . . MAP7 6 136342281 136550819 N . N N 0.490348861 80.10649997 0.929880602 16.1 . . MAP7D1 1 36155579 36180849 N . N N 0.20412301 64.63506396 0.973584104 12.6 . . MAP7D2 X 20006713 20116917 N . N N 0.313797733 71.32025236 0.555948305 28.5 . . MAP7D3 X 136213220 136256482 N . N N 0.867426333 90.49603519 1.13E-07 86 DM? . MAP9 4 155342658 155376970 N . N N 1.158152973 94.60554494 5.17E-12 94.6 . . MAPK10 4 86015123 86594131 N . N Y -0.392745948 24.81333565 0.834149756 20.5 DM . MAPK11 22 50263713 50270767 N Viable N Y -0.226721694 33.94107773 0.472036682 30.8 . . MAPK12 22 50245450 50261825 N . N Y 0.734932275 87.72356312 0.013620058 53.6 . . MAPK13 6 36127809 36144524 N . N Y 0.242443541 67.04288939 5.48E-07 83.6 . . MAPK15 8 143716259 143722458 N . N N 1.735341783 98.00891358 1.29E-16 97.7 . . MAPK1IP1L 14 55051631 55070192 N . N N -0.379654309 25.47317243 0.389494276 33 . . MAPK3 16 30114105 30123506 N . N Y -0.678823093 14.52219714 0.409692328 32.5 DM? . MAPK4 18 50560078 50731824 N . N Y -0.634606635 15.80714244 0.319051501 35.2 . . MAPK8 10 48306639 48439360 N . N Y -0.537219736 18.72431556 0.983602118 11.2 . . MAPK8IP2 22 50600685 50613981 N . N Y . . 0.99752478 7.2 . . MAPK9 5 180233143 180292099 N . N Y -0.322346967 28.12409562 0.009564338 55.1 . . MAPKAPK2 1 206684944 206734283 N Viable N Y 0.146667159 60.78022805 0.996185445 7.9 DFP . MAPKAPK3 3 50611520 50649297 N . N N -0.505292472 19.99768478 2.71E-06 80.7 . . MAPKAPK5 12 111841978 111902238 N . N Y -0.037232312 46.79053076 0.023422603 50.9 . . MAPKBP1 15 41774434 41827855 N Viable N Y 0.047169294 53.1631649 0.99902489 5.9 . . MAPRE1 20 32819893 32850405 N . N N -0.175157533 37.05504428 0.968087389 13.2 . . MAPRE2 18 34976928 35143470 N . N N -0.071071979 44.35376512 0.969644737 13 . . MAPRE3 2 26970612 27027196 N . N Y -0.435048161 22.94958616 0.799864407 21.7 . . MAPT 17 45894382 46028334 N Viable N Y 0.355293324 73.71650171 4.68E-05 74.1 DM Dementia, frontotemporal, with or without parkinsonism, 600274 (3); Pick disease, 172700 (3); Supranuclear palsy, progressive, 601104 (3); Supranuclear palsy, progressive atypical, 260540 (3); {Parkinson disease, susceptibility to}, 168600 (3) MARC1 1 220786759 220819657 N . N N 1.002191365 92.79388783 8.20E-05 72.5 . . MARC2 1 220748225 220784815 N . N Y 0.675714658 86.31128089 0.032600703 49.3 . . MARCH1 4 163524298 164384050 N . N Y -0.205169667 35.16235458 0.218777255 38.1 . . MARCH10 17 62701314 62808344 N . N N 1.02228461 93.07750188 3.45E-16 97.5 . . MARCH11 5 16067139 16180762 N . N N -0.025096816 47.5834925 0.002466243 61.2 . . MARCH2 19 8413270 8439017 N . N N -0.202298558 35.34178387 0.246993249 37.2 . . MARCH3 5 126867714 127030808 N . N N -0.476237287 21.18423337 0.636727871 26.4 . . MARCH4 2 216257865 216372027 N . N N -0.064373744 44.83996064 0.01625841 52.7 . . MARCH6 5 10353703 10440388 N . N N -1.343775714 4.369971639 0.999995976 2.1 . . MARCH7 2 159712457 159771027 N . N N -0.224504041 34.05105053 0.977026371 12.2 . . MARCH8 10 45454585 45594906 N . N N 0.016245619 50.75533947 1.37E-05 77.2 DP . MARCH9 12 57755098 57760407 N . N Y 0.110914976 58.05984835 0.350280136 34.2 . . MARCO 2 118942166 118994660 N . N Y 1.054057623 93.41899635 6.42E-08 86.7 . . MARK1 1 220528183 220664461 N . N N -0.601723109 16.6579846 0.990825676 9.8 . . MARK4 19 45079288 45305283 N . N N -0.714271963 13.55559414 0.999932136 3.5 . . MARS 12 57475445 57517569 N . N N -0.269372985 31.29594258 2.74E-12 94.9 DM Interstitial lung and liver disease, 615486 (3); Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) MARS2 2 197705369 197708387 N . N N -0.326827012 27.93309024 1.42E-06 82 DM Spastic ataxia 3, autosomal recessive, 611390 (3); ?Combined oxidative phosphorylation deficiency 25, 616430 (3) MARVELD1 10 97713173 97718152 N . N N . . . . . . MARVELD2 5 69415112 69444330 N Viable N Y 0.492109495 80.16438039 4.23E-11 93.5 DM Deafness, autosomal recessive 49, 610153 (3) MARVELD3 16 71626161 71642114 N . N N -0.677712298 14.56850148 0.000303794 68.6 . . MAS1 6 159906690 159916530 N Viable N Y -0.032448102 47.13781328 0.000870823 65.2 . . MAS1L 6 29486697 29487956 N . N N 0.278045399 69.20761706 0.000466206 67.2 . . MASP2 1 11026523 11047233 N . N Y 0.855292023 90.29924177 1.58E-14 96.6 DFP MASP2 deficiency, 613791 (3) MAST1 19 12833951 12874951 N . N N -2.279906232 1.169184465 0.999999024 1.7 . . MAST2 1 45786987 46036124 N . N Y -0.651503821 15.34988713 5.44E-11 93.3 . . MAST3 19 18097793 18151692 N . N N -1.313474725 4.636221566 0.998925261 6 . . MAST4 5 66596361 67169595 N . N N -1.233954275 5.267118134 0.008130239 55.8 FTV . MAT1A 10 80271820 80289684 N . N Y -0.617839926 16.24124559 0.754129518 23 DM Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3); Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3) MAT2B 5 163503114 163519336 N . N N -0.189206557 36.19841408 0.252497397 37 . . MATK 19 3777970 3802129 N . N Y -1.215250083 5.434971349 0.000234673 69.3 . . MATN1 1 30711277 30723587 N . N Y 0.199338946 64.3514499 0.005273986 57.9 . . MATN2 8 97868840 98036716 N . N Y 1.438997274 96.63714765 7.29E-09 89.3 . . MATN3 2 19992111 20012694 N . N Y 0.513511574 81.03837472 1.61E-06 81.7 DM Epiphyseal dysplasia, multiple, 5, 607078 (3); {Osteoarthritis susceptibility 2}, 140600 (3); Spondyloepimetaphyseal dysplasia, 608728 (3) MATN4 20 45293445 45308529 N . N N 0.655418603 85.80193321 9.70E-05 72 . . MATR3 5 139273752 139331677 N . N N -1.466714554 3.530705562 0.999818898 4.2 DM Amyotrophic lateral sclerosis 21, 606070 (3) MAU2 19 19320681 19358755 N . N N -1.145954475 6.100596168 0.999717755 4.6 . . MAVS 20 3846799 3876123 N . N Y 0.35705406 73.80911038 1.77E-07 85.3 DFP . MAZ 16 29806106 29811164 N . N N -0.69830864 13.97233316 0.953969622 14.4 . . MB21D1 6 73413515 73452276 N . N Y 0.407510974 76.22851189 2.61E-05 75.5 . . MB21D2 3 192796815 192918161 N . N N 0.068917845 54.82433293 0.385737571 33.1 . . MBD1 18 50266882 50281774 N . N Y -1.134471937 6.204780923 0.959615951 14 DM . MBD2 18 54151601 54224788 N . N Y -0.402163571 24.28662384 0.989310018 10.1 . . MBD3L1 19 8832398 8843340 N . N Y 0.308865253 70.99612201 1.30E-05 77.3 . . MBD3L2 19 7049321 7051735 N . N Y . . . . . . MBD3L3 19 7056209 7058640 N . N N . . 0.208438986 38.5 . . MBD3L4 19 7037748 7040179 N . N N . . . . . . MBD3L5 19 7030577 7033011 N . N N . . . . . . MBIP 14 36298558 36320676 N . N N -0.344856099 27.00700353 2.40E-05 75.8 . . MBL2 10 52765380 52771700 N . N N 0.811732769 89.36736702 0.000741512 65.8 DFP {Chronic infections, due to MBL deficiency}, 614372 (3) MBLAC1 7 100126694 100128498 N . N N . . 0.313958463 35.3 . . MBLAC2 5 90458203 90474768 N . N N -0.085121135 43.16142849 0.0002801 68.9 . . MBNL1 3 152243828 152465780 N . N Y -0.384285668 25.21271054 0.981577652 11.5 DP . MBNL3 X 132369317 132489968 N . N N 0.029338097 51.71036638 0.833044766 20.5 . . MBOAT1 6 20102145 20212399 N . N N 0.095253943 5.68E+01 8.84E-07 82.7 . . MBOAT2 2 8852690 9003813 N . N N 0.156083554 61.48058112 0.71697038 24.2 . . MBOAT4 8 30131824 30144686 N . N Y . . . . . . MBP 18 76978827 77133683 N . N Y 0.406554426 76.19378364 0.568470954 28.3 . . MBTPS2 X 21839636 21885424 N . N N -0.03818917 46.70949818 0.940199322 15.6 DM IFAP syndrome with or without BRESHECK syndrome, 308205 (3); Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3); ?Olmsted syndrome, X-linked, 300918 (3) MC1R 16 89912119 89920977 N . N Y 1.448093241 96.69502807 3.25E-07 84.4 DM [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced skin damage}, 266300 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3) MC3R 20 56248732 56249815 N . N Y -0.213476698 34.71088731 0.00136038 63.5 DM {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3); {Mycobacterium tuberculosis, protection against}, 607948 (3) MC4R 18 60371110 60372775 N . N Y -0.205016781 35.17393066 1.54E-05 77 DM Obesity, autosomal dominant, 601665 (3) MC5R 18 13824155 13826743 N . N Y -0.343899023 27.05330787 0.001088314 64.4 . . MCAM 11 119308529 119321521 N Viable N Y -0.404577762 24.14771083 0.054753129 46.4 . . MCAT 22 43132206 43143394 N . N N -0.092471964 42.67523297 0.000123488 71.3 . . MCC 5 113022099 113488830 N . N N 0.42233778 76.92886496 2.26E-08 88 . Colorectal cancer, somatic, 114500 (3) MCCC1 3 183015218 183116075 N . N N 0.261428632 68.11367714 2.51E-05 75.6 DM 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) MCCC2 5 71587288 71658704 N . N N -0.185226508 36.44151184 4.09E-08 87.3 DM 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3) MCCD1 6 31528717 31530232 N . N N 0.714044409 87.24894368 0.008963094 55.3 . . MCEE 2 71109684 71130239 N . N N 0.398903333 75.78283267 0.00211926 61.7 DM Methylmalonyl-CoA epimerase deficiency, 251120 (3) MCEMP1 19 7676628 7679826 N . N N . . . . . . MCF2 X 139581770 139708227 N . N Y 0.32321436 71.96272501 0.943290929 15.4 DM? . MCF2L 13 112894378 113099739 N . N Y -0.51779174 19.52885339 0.795541404 21.8 . . MCF2L2 3 183178043 183428778 N . N N -0.892156428 9.735486485 1.61E-12 95.1 DP . MCFD2 2 46901870 46941855 N . N N -0.20053791 35.44596863 0.069991235 45.1 DM Factor V and factor VIII, combined deficiency of, 613625 (3) MCHR1 22 40678750 40682814 N . N Y -0.479758918 21.01638016 0.001148393 64.2 DM . MCHR2 6 99919910 99994247 N . N N -0.617839926 16.24124559 3.50E-05 74.8 . . MCIDAS 5 55219614 55227315 N . N N . . . . . . MCM8 20 5950652 5998977 N . N Y 1.192156784 94.9586155 1.93E-10 92.5 DP ?Premature ovarian failure 10, 612885 (3) MCMBP 10 119829404 119892556 N . N N -1.263144718 5.024020374 0.998215055 6.8 . . MCMDC2 8 66870749 66922048 N . N N 0.108346305 57.8862071 5.69E-06 79.3 . . MCOLN1 19 7522626 7534009 N . N Y -0.097909737 42.2237657 0.037055973 48.7 DM Mucolipidosis IV, 252650 (3) MCOLN2 1 84925583 84997113 N . N N 0.05214974 53.52781154 1.32E-10 92.8 . . MCTP1 5 94703741 95284575 N . N N -1.261083769 5.0413845 0.009889118 55 . . MCTP2 15 94231538 94483952 N . N N 0.627639564 84.9858193 7.93E-41 99.9 . . MCTS1 X 120594010 120621074 N . N N 0.340643524 72.9003878 0.825030346 20.8 . . MCUR1 6 13786557 13814568 N . N N -0.151691433 38.58887538 0.001563031 62.9 . . MDC1 6 30699807 30717889 N . N N 2.164344673 98.80187533 0.000941847 65 . . MDFIC 7 114922154 115019916 N . N N 0.584718507 83.67193378 . . . . MDGA1 6 37630679 37699306 N . N Y -0.661600048 14.99102854 0.995236957 8.3 . . MDGA2 14 46839629 47674954 N . N N -0.370888658 25.82624298 0.993216871 9.1 . . MDH1B 2 206737763 206765547 N . N N 0.32321436 71.96272501 5.81E-12 94.6 . . MDH2 7 76048051 76067508 N . N N -0.001479352 49.31411703 0.177605136 39.4 . . MDM1 12 68272443 68332381 N . N N 0.065393747 54.58702321 5.78E-08 86.8 . . MDP1 14 24213937 24216070 N Viable N Y -0.01663693 48.16808474 0.001526159 62.9 . . MDS2 1 23581495 23640568 N . N N . . 0.042965573 47.9 . . ME1 6 83210389 83431071 N . N N -0.076357581 43.94860219 2.22E-10 92.3 . . ME2 18 50879049 50954257 N . N N -0.006111899 49.02471494 1.17E-07 86 . . ME3 11 86441108 86672636 N . N N -0.766795331 12.27643688 1.14E-05 77.7 . . MEA1 6 43012094 43013968 N . N N 0.194405525 64.08519998 0.043401233 47.8 . . MEAF6 1 37492575 37514774 N . N N 0.078989305 55.61150663 0.730388139 23.8 . . MED10 5 6371881 6378594 N . N N 0.009548021 50.25756786 0.039721058 48.3 . . MED12L 3 151085697 151437072 N . N N -3.418409083 0.416739017 0.999999276 1.6 . . MED13 17 61942605 62065282 N . N N -2.754578727 0.752445448 1 0.4 DM . MED13L 12 115953872 116277338 N . N N -1.695895722 2.471493894 0.999999999 0.6 DM Transposition of the great arteries, dextro-looped 1, 608808 (3) MED14 X 40648306 40735858 N . N N -0.247164145 32.62140418 0.999999382 1.6 . . MED15 22 20495913 20587632 N . N N -0.618493002 16.2296695 0.960808623 13.9 . . MED16 19 867630 893218 N . N N -2.245968758 1.221276842 0.018766118 52 . . MED17 11 93784227 93814695 N . N N -0.906641191 9.463448515 3.89E-06 80.1 DM Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) MED18 1 28329002 28335967 N . N Y -0.117047237 40.96776061 0.000448334 67.3 . . MED19 11 57703714 57712221 N . N N -0.142427542 39.22555999 0.683790051 25.1 . . MED20 6 41905354 41921139 N . N N -0.199580796 35.52700122 0.488942721 30.3 DM . MED26 19 16574907 16629062 N . N N -0.904579196 9.492388725 0.948549942 14.9 . . MED27 9 131860107 132079908 N . N N -0.219218665 34.36360479 0.003604247 59.5 . . MED29 19 39391303 39400637 N . N N 0.295771879 70.24367656 0.001012258 64.7 . . MED4 13 48053323 48095131 N . N N -0.03818917 46.70949818 0.061620028 45.8 . . MED6 14 70581257 70600690 N . N N -0.335593115 27.47004688 0.01496795 53.2 . . MED7 5 157137412 157159019 N . N N 0.118418051 58.60971233 0.215739811 38.2 . . MED8 1 43383917 43389808 N . N N 0.006828994 50.02025815 8.16E-06 78.6 . . MED9 17 17476986 17493226 N . N N -0.027967398 47.43300341 0.315748749 35.3 . . MEDAG 13 30906191 30925572 N Viable N Y 0.121288029 58.8122938 0.000667054 66.2 . . MEF2B 19 19145568 19170289 N . N N -0.377739799 25.58314522 0.590447263 27.7 . . MEF2BNB 19 19176903 19192591 N . N N . . . . . . MEF2BNB-MEF2B 19 19145567 19192158 N . N N -0.377739799 25.58314522 0.247287511 37.2 . . MEF2D 1 156463727 156500828 N . N N -0.697503755 14.01863749 0.998547093 6.5 . . MEGF10 5 127290831 127465737 N . N Y -1.440924885 3.727498987 0.994324945 8.7 DM Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3); Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3) MEGF11 15 65895079 66253747 N . N Y 0.649830009 85.61092782 2.52E-24 99.3 DM? . MEGF6 1 3489920 3611495 N . N N 3.235020455 99.62377728 4.42E-15 96.9 . . MEGF9 9 120600813 120714470 N . N N 0.157040256 61.54424958 0.921919105 16.6 . . MEI1 22 41699499 41799456 N . N N -0.902389918 9.527116976 1.22E-08 88.7 . . MEI4 6 77690658 77926974 N . N Y . . . . . . MEIG1 10 14959439 14988050 N . N Y 0.388531503 75.30242519 0.053173799 46.7 . . MEIKIN 5 131806993 131945698 N . N N . . . . . . MEIOB 16 1833983 1884294 N . N Y . . 9.45E-07 82.6 . . MEIS2 15 36889204 37101299 N . N N -0.434892888 22.97273832 0.994254955 8.7 DM? . MEIS3 19 47403124 47419523 N . N N 0.499461757 80.4422064 0.000113443 71.4 . . MELK 9 36572862 36677683 N . N N -0.392441253 24.83648782 1.87E-08 88.2 . . MEOX1 17 43640388 43661954 N . N N 1.169188195 94.73288187 0.065397404 45.5 DM Klippel-Feil syndrome 2, 214300 (3) MEP1A 6 46793390 46839782 N . N Y -0.234727022 33.37963767 5.77E-07 83.5 . . MEPCE 7 100428790 100434126 N . N N -0.626146471 15.99814783 0.996809252 7.6 . . MEPE 4 87821411 87846817 N . N Y 0.828799349 89.74937779 0.362907709 33.8 . . MERTK 2 111898479 112029561 N . N Y -0.248628289 32.52879551 9.66E-08 86.1 DM Retinitis pigmentosa 38, 613862 (3) MESDC1 15 81000944 81005788 N . N N -0.252102165 32.32621404 0.683511246 25.1 . . MESDC2 15 80946289 80989878 N . N Y -0.014723262 48.28963362 0.846200196 20 DM? . METAP1 4 98995620 99062813 N . N N -0.177071645 36.92770736 0.043547683 47.8 . . METAP1D 2 171999583 172082430 N . N N 0.170132915 62.53400475 1.56E-06 81.9 . . METRN 16 715115 719655 N . N N . . 0.081804436 44.3 . . METRNL 17 83079691 83095119 N . N N 0.025662211 51.48463275 0.860216826 19.5 . . METTL1 12 57768471 57772793 N . N N -0.618797287 16.21230538 0.005915617 57.3 DFP . METTL10 10 124748149 124791870 N . N N 0.367934269 74.27215373 0.371286245 33.6 . . METTL11B 1 170146001 170167790 N . N N . . . . . . METTL12 11 62665309 62668496 N . N N 0.654160748 85.75562887 0.009460264 55.2 . . METTL13 1 171781664 171814023 N . N N -0.868973906 10.21010592 0.00133198 63.6 . . METTL14 4 118685368 118715433 N . N N -0.103802501 41.88805927 0.847165775 20 DM? . METTL15 11 28108248 28333507 N . N N 0.185138978 63.52375991 0.000155431 70.5 . . METTL17 14 20989770 20997035 N . N N 0.21625851 65.43381374 5.78E-08 86.8 . . METTL18 1 169792529 169794966 N . N N 0.185138978 63.52375991 0.028935054 49.9 . . METTL20 12 31647160 31673114 N Viable N Y 0.689765371 86.64698732 5.20E-05 73.8 . . METTL21A 2 207580631 207625928 N . N N 0.461797774 78.90258725 0.052177654 46.8 . . METTL21B 12 57771492 57782798 N . N N 0.045300934 53.00688777 0.00509294 58 . . METTL21C 13 102685744 102694504 N . N N 0.533151945 81.77345604 3.55E-06 80.2 . . METTL22 16 8621683 8649654 N . N N 0.797023952 89.13584534 3.96E-08 87.3 . . METTL23 17 76726830 76733936 N . N N 0.195362073 64.12571627 0.113237609 42.5 . Mental retardation, autosomal recessive 44, 615942 (3) METTL24 6 110245928 110358272 N . N Y 0.364256447 74.10430052 0.012714482 54 . . METTL25 12 82358497 82479236 N . N N -0.338006426 27.36007409 1.65E-07 85.5 . . METTL2A 17 62423867 62450822 N . N N 0.375585437 74.723621 1.77E-05 76.6 . . METTL2B 7 128476729 128506602 N . N N 0.644892524 85.51253111 0.082709098 44.2 . . METTL3 14 21498133 21511375 N . N N -0.031491274 47.21884586 0.001004965 64.7 . . METTL4 18 2537525 2571509 N . N N -0.059589522 45.15830295 2.55E-05 75.6 . . METTL5 2 169810081 169824931 N . N N -0.001630854 49.29675291 0.003672715 59.4 . . METTL6 3 15381275 15440566 N . N N -0.31116943 28.88232911 0.000603418 66.5 . . METTL7A 12 50923472 50932517 N . N N -0.150734446 38.66411993 0.005518765 57.7 . . METTL7B 12 55681546 55684611 N Viable N Y 0.530283168 81.66927129 0.522330681 29.4 . . METTL8 2 171317405 171434802 N . N N . . 1.44E-09 90.8 FTV . METTL9 16 21597218 21657473 N . N N -0.26151962 31.75319789 0.377292455 33.4 . . MEX3A 1 156072013 156081998 N . N N -0.523170861 19.29733171 0.881462711 18.5 . . MEX3B 15 82041778 82046141 N . N N -1.200242224 5.573884355 0.201034761 38.7 . . MEX3D 19 1554669 1568058 N . N N . . . . . . MFAP1 15 43804492 43824802 N . N N -0.512795604 19.70249465 0.986958817 10.6 . . MFAP2 1 16974502 16980835 N . N Y 0.163436574 62.02465706 0.000124328 71.2 . . MFAP3 5 154038906 154220478 N . N N 0.209561389 65.04601493 0.008444779 55.6 . . MFAP3L 4 169986597 170033031 N . N N 0.013526612 50.54118192 0.910529966 17.3 . . MFAP4 17 19383442 19387240 N Viable N Y -0.251145013 32.40145859 0.559557122 28.4 . . MFAP5 12 8637346 8662888 N . N Y 0.058393523 53.97927881 0.348683723 34.2 . Aortic aneurysm, familial thoracic 9, 616166 (3) MFF 2 227325151 227357836 N . N N 0.284591847 69.63014412 0.375813389 33.5 DM . MFGE8 15 88898683 88913411 N . N Y 0.002347879 49.66139955 0.000594282 66.5 DM . MFHAS1 8 8783354 8893645 N . N N -2.045185428 1.551195231 2.23E-05 75.9 . Malignant fibrous histiocytoma (2) MFI2 3 196988621 197029816 N . N N 1.350866236 96.11622388 7.71E-12 94.4 DP . MFNG 22 37469063 37486401 N . N Y 0.112978986 58.22191353 1.32E-07 85.8 . . MFRP 11 119341168 119346673 N . N Y -0.539634949 18.59697864 5.34E-08 86.9 DM Microphthalmia, isolated 5, 611040 (3); Nanophthalmos 2, 609549 (3) MFSD1 3 158732198 158829719 N . N N -0.694632616 14.11703421 1.02E-09 91.1 . . MFSD10 4 2930561 2934859 N . N N 0.042733143 52.78694218 3.02E-07 84.5 . . MFSD11 17 76735865 76781449 N . N N -0.52397308 19.2683915 0.004532282 58.6 . . MFSD12 19 3538261 3574290 N . N N 0.343158802 73.0393008 1.07E-09 91.1 . . MFSD2B 2 24010081 24063321 N . N N 0.633712862 85.17103664 1.76E-07 85.3 . . MFSD3 8 144509074 144511213 N . N N 0.330566867 72.36788794 2.02E-08 88.1 . . MFSD4 1 205568885 205602918 N . N N -0.462034049 21.80355386 0.009988657 54.9 . . MFSD5 12 53251251 53254405 N . N N -0.513598872 19.67934248 0.102466255 42.9 . . MFSD6 2 190408355 190509205 N . N N -0.277981954 30.72871448 0.001846694 62.2 . . MFSD6L 17 8797162 8799349 N . N N 1.035376388 93.2048388 2.40E-08 87.9 DM . MFSD7 4 681829 689441 N . N N 0.146012849 60.7049835 2.76E-12 94.9 . . MFSD8 4 127917805 127965995 N Viable N Y -0.194643158 35.86849569 4.67E-06 79.7 DM Ceroid lipofuscinosis, neuronal, 7, 610951 (3); Macular dystrophy with central cone involvement, 616170 (3) MFSD9 2 102715840 102736888 N . N N 1.062518565 93.53475719 7.72E-06 78.7 . . MGA 15 41621224 41773081 N . N N -2.280382886 1.163396423 1 0.5 . . MGAM 7 141907813 142106747 N . N Y 1.583741836 97.40116918 1.55E-23 99.2 . . MGAM2 7 142111749 142222324 N . N N . . . . . . MGARP 4 139266163 139280338 N . N N 0.304231467 70.75881229 0.023824158 50.7 . . MGAT3 22 39457344 39492194 N . N Y 0.061414866 54.25131678 0.460179519 31.1 . . MGAT4A 2 98619106 98731126 N . N Y 0.051041541 53.45835504 0.059816175 46 . . MGAT4B 5 179797597 179806952 N . N Y 0.433998674 77.57133762 0.813383751 21.2 . . MGAT4C 12 85955666 86838904 N . N N 0.185138978 63.52375991 0.011169053 54.5 DM . MGAT4D 4 140442262 140498377 N Viable N Y . . . . . . MGAT5 2 134119983 134454621 N . N Y -0.753702167 12.50217052 0.999925017 3.5 . . MGAT5B 17 76868456 76950393 N . N Y -0.876332924 10.01910054 0.126104149 41.7 . . MGLL 3 127689062 127823250 N . N Y -0.104759418 41.81281472 0.00459891 58.5 DM . MGME1 20 17968913 17991122 N . N N 0.222654188 65.80424842 0.003614328 59.5 DM Mitochondrial DNA depletion syndrome 11, 615084 (3) MGMT 10 129467184 129768007 N . N Y 0.054717474 53.7014528 9.21E-09 89 DFP . MGP 12 14881181 14885926 N . N Y 0.617455056 84.68484112 0.006728334 56.8 DM Keutel syndrome, 245150 (3) MGST1 12 16347142 16609259 N . N N 0.12592113 59.20588065 0.014028944 53.5 . . MGST2 4 139665768 139740745 N . N N 0.254430455 67.72009029 0.055150566 46.4 DM . MGST3 1 165630861 165661796 N Viable N Y 0.063983137 54.4886265 0.007153041 56.5 DM . MIA 19 40771648 40777490 N . N Y 0.169983117 62.51085258 0.00695373 56.6 . . MIA2 14 39230231 39253655 N . N N 0.825123308 89.64519303 0.00020882 69.7 . . MIA-RAB4B 19 40771648 40786685 N . N N . . . . . . MICA 6 31399784 31415315 N . N N 1.881317108 98.37356022 0.00037802 68 DM . MICAL1 6 109444062 109465968 N . N N 0.385779118 75.18087631 2.55E-12 94.9 . . MICAL2 11 12094008 12263789 N . N N 0.754404924 88.18660647 0.132223746 41.5 . . MICAL3 22 17787649 18024559 N . N N 0.149015084 60.9249291 0.999997948 2 DM? . MICALCL 11 12276080 12359144 N . N N 2.046890196 98.63981015 5.42E-16 97.4 DM? . MICALL1 22 37905657 37942822 N . N N -0.336093267 27.44110667 0.000381389 67.9 . . MICALL2 7 1428465 1459502 N . N N 2.439489764 99.13758176 7.76E-17 97.7 . . MICB 6 31494881 31511124 N . N N 0.521971277 81.33356486 0.000284377 68.8 DFP . MICU1 10 72367327 72626191 N . N N 0.019116005 51.00422527 1.68E-10 92.6 . Myopathy with extrapyramidal signs, 615673 (3) MICU2 13 21492691 21604214 N . N N 0.28091539 69.36968224 2.60E-13 95.8 . . MICU3 8 17027238 17122644 N . N N 0.12989848 59.41425016 3.12E-06 80.5 . . MID1 X 10445310 10833654 N . N Y -0.577452276 17.42779418 0.500724578 29.9 DM Opitz GBBB syndrome, type I, 300000 (3) MID1IP1 X 38801432 38806537 N Viable N Y -0.026053671 47.51982404 0.489439187 30.3 . . MID2 X 107825755 107927193 N . N Y -0.228482701 33.83110494 0.985076414 10.9 . ?Mental retardation, X-linked 101, 300928 (3) MIDN 19 1248553 1259140 N . N N -0.312777691 28.73184002 0.049062651 47.1 . . MIEF1 22 39499432 39518132 N . N N -0.066135668 44.67789547 0.062893833 45.7 . . MIEF2 17 18260534 18266552 N . N N 0.489238883 80.06598368 0.077014522 44.6 . . MIEN1 17 39728496 39730787 N . N N 0.061112993 54.1992244 0.773016773 22.5 . . MIER1 1 66924895 66988619 N . N Y 0.031402963 51.9476761 0.966295466 13.4 . . MIER2 19 301444 344807 N . N N 0.425538583 77.11987035 0.977262863 12.1 . . MIER3 5 56919602 56971675 N . N N -0.706921447 13.72344736 0.99921643 5.6 . . MIF 22 23894004 23895227 N . N Y . . 0.032484223 49.3 DFP {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) MIF4GD 17 75266228 75271227 N . N N -0.627257916 15.94605545 3.58E-05 74.8 . . MIIP 1 12019466 12032045 N . N N 1.209723165 95.11489263 1.96E-15 97.1 DFP . MILR1 17 64449037 64468643 N . N Y . . . . . . MINA 3 97941818 97972457 N . N Y 0.700285457 8.69E+01 1.58E-05 76.9 . . MINK1 17 4833388 4898061 N . N N -1.48430348 3.443884934 0.999984022 2.7 . . MINOS1 1 19596977 19629821 N . N N 0.069572814 54.86484922 0.348880395 34.2 . . MINOS1-NBL1 1 19596979 19658056 N . N N . . 0.068107983 45.2 . . MINPP1 10 87504875 87553460 N . N Y -0.742523485 12.81472478 0.454406267 31.3 DM Thyroid carcinoma, follicular, 188470 (3) MIOS 7 7566872 7608929 N . N N -1.336125667 4.439428141 0.001435669 63.2 . . MIOX 22 50486784 50490648 N . N N 0.956359059 92.12247497 4.60E-12 94.7 . . MIP 12 56449502 56469166 N . N N -0.039146033 46.66319384 0.677914765 25.2 DM Cataract 15, multiple types, 615274 (3) MIPEP 13 23730189 23889419 N . N N 0.934957546 91.80413266 8.49E-07 82.8 . . MIPOL1 14 37197913 37552361 N Viable N Y -0.803507355 11.4776871 6.82E-06 79 DM . MIS12 17 5486285 5490814 N . N N -0.055108985 45.45349308 0.020597647 51.5 . . MIS18BP1 14 45203190 45253540 N . N N -0.400605488 24.37344446 2.30E-05 75.9 . . MISP 19 751126 764318 N . N N 1.417444011 96.46929444 1.95E-10 92.5 . . MITD1 2 99161427 99181058 N . N N -0.100127206 42.09064074 0.00170794 62.5 . . MKI67 10 128096659 128126385 N . N N 2.95700911 99.50801644 4.17E-16 97.5 . . MKLN1 7 131110096 131496636 N . N N -0.179637179 36.77143023 0.999577505 5 . . MKNK1 1 46557408 46616843 N . N Y -0.160955729 37.95219077 0.000222399 69.5 . . MKNK2 19 2037465 2051244 N . N Y 0.00602363 49.96237773 9.34E-06 78.2 . . MKRN1 7 140453040 140479569 N . N N -0.199427635 35.53278926 0.979423651 11.8 . . MKRN2 3 12557014 12583713 N Viable N Y -0.212519778 34.79191989 0.407628906 32.6 . . MKRN2OS 3 12514934 12561059 N . N N . . . . . . MKRN3 15 23565678 23630075 N . N N -0.827779211 10.99727962 0.023577506 50.8 DM Precocious puberty, central, 2, 615346 (3) MKX 10 27672875 27746060 N . N Y 0.626060077 84.945303 0.882320086 18.5 . . MLANA 9 5890802 5910606 N . N Y 0.321002544 71.81802396 1.08E-08 88.8 . . MLC1 22 50059391 50085902 N Viable N Y 0.356902595 73.80332234 5.03E-05 73.9 DM Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) MLEC 12 120686869 120701864 N . N Y -0.184574695 36.47624009 0.470920638 30.8 . . MLF1 3 158571163 158607252 N . N N 0.44774765 78.23696244 1.28E-06 82.2 . Leukemia, acute myeloid, 601626 (1) MLF2 12 6747996 6767475 N . N N 0.013375229 50.50645367 0.921484672 16.6 . . MLH1 3 36993332 37050918 Y Viable N Y -0.228180536 33.84846906 0.739578311 23.5 DM Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Mismatch repair cancer syndrome, 276300 (3); Muir-Torre syndrome, 158320 (3) MLH3 14 75013764 75051532 N . N Y 0.862332525 90.40921456 0.000425002 67.6 DM Colorectal cancer, somatic, 114500 (3); Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3); {Endometrial cancer, susceptibility to}, 608089 (3) MLIP 6 53929982 54266280 N . N N . . 1.02E-11 94.3 . . MLK4 1 233327768 233385148 N . N N . . 0.000607299 66.4 . . MLKL 16 74671855 74700960 N . N Y 1.046553959 93.33217572 7.48E-14 96.2 . . MLLT10 10 21524675 21743630 N . N N -1.447601781 3.686982694 0.999583699 5 . . MLLT11 1 151057758 151068497 N . N N 0.001088113 49.55142675 0.473311552 30.7 . Leukemia, acute myelomonocytic, somatic, somatic 607785 (3) MLLT6 17 38705542 38729803 N . N N -0.833222965 10.92782312 0.998762157 6.2 . . MLN 6 33794673 33804011 N . N N 0.297536667 70.34207328 0.001658574 62.6 . . MLNR 13 49220338 49222377 N . N N 0.175722654 62.91601551 0.046587675 47.4 . . MLX 17 42567068 42573239 N . N N -0.4706489 21.39260288 0.469292432 30.9 . . MLXIP 12 122078722 122147347 N . N N . . 0.975747589 12.3 . . MLXIPL 7 73593194 73624543 N . N Y -0.175809925 37.02031603 0.676823094 25.3 DM . MLYCD 16 83899126 83927026 N . N Y 0.065242053 54.58123517 0.000280848 68.8 DM Malonyl-CoA decarboxylase deficiency, 248360 (3) MMAA 4 145618263 145660035 N . N N -0.63939225 15.70295769 0.003181808 60.1 DM Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) MMAB 12 109553737 109573874 N . N N 0.274219089 68.94136714 0.00387716 59.2 DM Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) MMACHC 1 45500053 45513382 N . N N 1.03889927 93.2453551 5.26E-14 96.3 DM Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) MMADHC 2 149569634 149587816 N . N N 0.297684879 70.38258957 0.020776843 51.4 DM Homocystinuria, cblD type, variant 1, 277410 (3); Methylmalonic aciduria, cblD type, variant 2, 277410 (3); Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) MMD 17 55392613 55421992 N . N N -0.411581382 23.84673265 0.013644655 53.6 . . MMD2 7 4905989 4959213 N . N N -0.310212249 28.91705736 0.000916863 65.1 . Miyoshi muscular dystrophy 2 (2) MME 3 155024124 155183729 N . N Y -0.722583176 13.34722463 2.19E-08 88 DM [Neutral endopeptidase deficiency], 614692 (1); Membranous glomerulonephritis, antenatal, 614692 (1) MMEL1 1 2590639 2632990 N . N Y 0.835655068 89.89986688 8.88E-13 95.3 DP . MMGT1 X 135962070 135974063 N . N N 0.113634918 58.26821786 0.408287058 32.6 FTV . MMP1 11 102789920 102798160 N . N Y 0.695652645 86.80326446 2.49E-15 97 DFP COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3) MMP10 11 102770503 102780628 N . N Y 0.476146347 79.59715228 1.98E-13 95.9 DP . MMP11 22 23768226 23784316 N . N Y 0.640259297 85.3446779 6.59E-05 73.1 . . MMP12 11 102862736 102875034 N . N Y . . . . DFP . MMP13 11 102942995 102955734 N . N Y 0.366319083 74.16796898 2.17E-05 76 DM Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3); Metaphyseal anadysplasia 1, 602111 (3) MMP15 16 58025566 58046901 N Viable N Y 0.509986769 80.8705215 0.651305092 26 . . MMP16 8 88032009 88328025 N Viable N Y -0.706921447 13.72344736 0.916974084 16.9 . . MMP17 12 131828393 131851783 N . N Y 0.215453614 65.36435724 1.15E-06 82.4 . . MMP19 12 55835433 55842966 N . N Y 0.750089699 88.0939978 1.45E-13 96 DM? Cavitary optic disc anomalies, 611543 (3) MMP2 16 55389700 55506691 N . N Y -0.95997312 8.554725936 0.791258492 22 DM Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) MMP20 11 102576835 102625332 N . N Y 0.432084694 77.49609307 1.63E-08 88.4 DM Amelogenesis imperfecta, type IIA2, 612529 (3) MMP21 10 125766453 125775821 N . N N 0.02389999 51.36308387 3.21E-07 84.4 . . MMP23B 1 1632095 1701810 N Viable N Y . . . . . . MMP24 20 35226654 35277000 N . N Y -0.204059885 35.20865891 0.028762329 49.9 . . MMP25 16 3046681 3060726 N . N N 0.038100617 52.39914337 1.65E-06 81.7 . . MMP26 11 4704927 4992429 N . N N 0.410231756 76.34427273 0.022171884 51.1 . . MMP27 11 102691487 102705806 N . N N 1.030589476 93.16432251 2.35E-10 92.3 . . MMP28 17 35756249 35795707 N . N Y 0.260020778 68.03264456 0.00013926 70.9 . . MMP3 11 102835801 102843803 N . N Y 0.429214031 77.35718007 3.50E-08 87.4 DFP {Coronary heart disease, susceptibility to, 6}, 614466 (3) MMP7 11 102520508 102530753 N . N Y 0.345573038 73.16663773 1.66E-09 90.7 DFP . MMP8 11 102711795 102727050 N Viable N Y 0.922668267 91.58418707 1.18E-19 98.6 DM? . MMP9 20 46008908 46016561 N Viable N Y 0.191987689 63.94049893 2.79E-08 87.7 DM Metaphyseal anadysplasia 2, 613073 (3) MMRN1 4 89879532 89954629 N Viable N Y -0.453800883 22.11032008 9.35E-17 97.7 . . MMRN2 10 86935540 86969481 N . N N -0.725306169 13.24882792 2.49E-10 92.3 DM? . MMS19 10 97458324 97498794 N . N N -0.417671117 23.59205881 0.831821999 20.6 . . MMS22L 6 97142161 97283217 N . N N 0.649191201 85.57619957 0.671142491 25.5 . . MND1 4 153344649 153415118 N . N N 0.36138737 73.96538751 1.28E-05 77.4 . . MNDA 1 158831317 158849506 N . N N 0.434803554 77.64079412 7.23E-11 93.2 . . MOAP1 14 93182196 93184928 N . N N 0.511598665 80.93418996 0.001403636 63.3 . . MOB1A 2 74152528 74178898 N . N N -0.088948948 42.87202639 0.853010255 19.8 . . MOB1B 4 70902326 71022449 N . N N -0.131096333 39.98379348 0.007973715 55.9 . . MOB2 11 1469457 1501247 N . N N 0.060307001 54.1297679 0.641498729 26.3 . . MOB3A 19 2071038 2096673 N . N N -0.033404934 47.05678069 0.002927403 60.4 . . MOB3B 9 27325209 27529781 N . N N -0.25960522 31.89789894 0.030377777 49.6 . . MOB3C 1 46607715 46616891 N . N N 0.033165214 52.10395323 0.034004954 49.1 FTV . MOB4 2 197515571 197553699 N . N N -0.164936793 37.70909301 0.77783291 22.4 DM? . MOBP 3 39467198 39529479 N . N Y . . 0.592010033 27.7 . . MOCOS 18 36187519 36272157 N . N N 0.461449991 78.89101117 6.10E-07 83.4 DM . MOCS3 20 50958826 50963931 N . N N -0.324108069 28.06042716 1.14E-05 77.7 . . MOG 6 29656981 29672372 N . N Y 0.105325255 57.63153325 0.103680313 42.9 DM ?Narcolepsy 7, 614250 (3) MOGAT1 2 222671786 222709930 N . N N 0.626060077 84.945303 2.13E-06 81.2 . . MOGAT2 11 75717819 75732958 N . N Y 0.499461757 80.4422064 0.218649113 38.1 . . MOGAT3 7 101195007 101201021 N . N N 0.71146575 87.17948718 2.40E-10 92.3 FTV . MOK 14 102224500 102305200 N . N N 0.298791665 70.43468195 5.96E-17 97.8 FTV . MON1A 3 49908862 49930173 N . N N -0.958208997 8.606818313 0.00636811 57 . . MON1B 16 77190835 77202405 N . N N -1.332445495 4.462580309 0.229740475 37.7 . . MON2 12 62466817 62600479 N . N N -1.044013138 7.292932801 0.982708263 11.3 . . MORC1 3 108958239 109118142 N . N N -0.050827166 45.71395497 0.000240876 69.2 . . MORC2 22 30925130 30968298 N . N N -1.509683337 3.293395844 0.99996748 3.1 . . MORC4 X 106813871 107000244 N . N N -0.360666394 26.29507438 0.993467674 9 . . MORF4L2 X 103675496 103688158 N . N Y -0.072985841 44.23221624 0.63639472 26.4 . . MORN1 1 2321253 2391707 N . N N 1.157195988 94.58239278 7.88E-07 83 . . MORN2 2 38875962 38929072 N . N N . . . . . . MORN3 12 121648742 121672631 N . N N 0.395225439 75.60340337 1.83E-06 81.5 . . MORN4 10 97614553 97633500 N . N N 0.056480057 53.81721364 0.182745761 39.2 . . MORN5 9 122159908 122200088 N . N N 0.119374702 58.69074492 0.001663335 62.6 . . MOS 8 56112942 56113982 N . N Y -0.231353608 33.64009955 0.149307838 40.6 . . MOSPD1 X 134887626 134915267 N . N N -0.073942787 44.13960757 0.871382679 19 . . MOSPD2 X 14873441 14922327 N . N N -0.130139339 40.0821902 0.99271393 9.2 . . MOV10 1 112673141 112700746 N . N N -1.08275718 6.754644904 0.998090428 6.9 DM? . MOV10L1 22 50089879 50161690 N . N Y -0.867601561 10.25062221 5.75E-10 91.6 . . MOXD1 6 132296055 132401545 N Viable N Y -0.445919635 22.46339063 8.99E-11 93 . . MPC1 6 166364919 166383013 N . N N 0.093038818 56.61283788 0.145968077 40.8 . Mitochondrial pyruvate carrier deficiency, 614741 (3) MPC2 1 167916729 167937040 N . N N 0.007634404 50.08971465 0.449429467 31.4 . . MPDU1 17 7583529 7592789 N . N N 0.561252451 82.78636337 0.144211428 40.8 DM Congenital disorder of glycosylation, type If, 609180 (3) MPDZ 9 13105704 13279590 N . N N 0.781671857 88.82329108 . . DM Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3) MPEG1 11 59208510 59212951 N . N N -0.264739339 31.59113272 3.46E-12 94.8 . . MPG 16 77007 85853 N . N Y 0.568903575 83.02367309 4.24E-09 89.8 FP . MPHOSPH10 2 71130314 71150101 N . N N 1.311103324 95.86155004 0.585921553 27.8 . . MPHOSPH6 16 82147798 82170226 N . N N 0.400815894 75.88122938 0.001208434 64 . . MPHOSPH8 13 19633681 19673459 N . N N -0.669103383 14.78844707 0.930242309 16.1 DM? . MPHOSPH9 12 123152320 123244014 N . N N -0.533897786 18.8400764 0.000759987 65.7 . . MPL 1 43337807 43352772 N . N Y 0.368232636 74.30688198 1.44E-06 82 DM Thrombocytopenia, congenital amegakaryocytic, 604498 (3); Thrombocythemia 2, 601977 (3); Myelofibrosis with myeloid metaplasia, somatic, 254450 (3) MPLKIP 7 40126023 40134659 N Viable N Y . . 0.002058352 61.8 . Trichothiodystrophy 4, nonphotosensitive, 234050 (3) MPND 19 4343527 4360086 N . N N 0.71146575 87.17948718 0.015724967 52.9 . . MPO 17 58269856 58280935 N Viable N Y -0.120267952 40.70729872 1.75E-09 90.7 DM Myeloperoxidase deficiency, 254600 (3); {Alzheimer disease, susceptibility to}, 104300 (3); {Lung cancer, protection against, in smokers} (3) MPP1 X 154778684 154821007 N . N Y -0.006263422 49.00156277 0.940116718 15.6 . . MPP2 17 43875357 43909711 N . N N -0.760248704 12.39219772 0.002580507 61 . . MPP3 17 43800799 43833170 N . N N -0.267759536 31.40012734 2.00E-05 76.2 DP . MPP4 2 201644870 201698694 N . N Y -0.269673173 31.29015454 5.88E-09 89.4 . . MPP5 14 67241109 67335819 N . N N -0.517274597 19.5577936 0.660477587 25.8 . . MPP6 7 24573268 24694193 N . N N -0.244445663 32.81240956 0.930676771 16.1 DM? . MPP7 10 28050993 28334486 N . N N -0.130792007 40.01852173 8.58E-07 82.8 DP . MPPE1 18 11882622 11909223 N . N N 0.295921468 70.25525265 8.34E-06 78.5 . . MPPED1 22 43411196 43507848 N . N N -0.347727532 26.88545465 0.283449525 36.1 . . MPPED2 11 30384493 30586872 N . N N -0.441593835 22.64281993 0.970565202 12.9 . . MPRIP 17 17042545 17217679 N . N N -1.897918178 1.863749494 0.870658012 19 . . MPST 22 37019635 37029822 N . N Y -0.024139966 47.63558488 0.006776468 56.7 DP . MPV17 2 27309492 27325680 N . N N 0.513364317 81.01522255 1.10E-08 88.8 DM Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) MPV17L 16 15395754 15413268 N . N N . . 0.000500982 67 . . MPV17L2 19 18193182 18196948 N . N N 0.633417736 85.14788447 1.67E-07 85.5 . . MPZ 1 161304735 161309972 N . N Y -0.146102415 38.98246223 0.691715781 24.8 DM Charcot-Marie-Tooth disease, type 1B, 118200 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, congenital hypomyelinating, 605253 (3); Charcot-Marie-Tooth disease, type 2J, 607736 (3); Roussy-Levy syndrome, 180800 (3); Charcot-Marie-Tooth disease, type 2I, 607677 (3); Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3) MPZL1 1 167721192 167791919 N Viable N Y -0.426587603 23.26214042 0.327816834 34.9 . . MPZL2 11 118253403 118264536 N . N Y 0.759208317 88.28500318 1.22E-11 94.1 . . MPZL3 11 118226690 118252350 N . N N 0.108195341 57.87463101 6.52E-09 89.4 . . MR1 1 181033425 181061938 N . N Y 0.461946007 78.93152746 5.61E-09 89.5 DM? Paroxysmal nonkinesigenic dyskinesia, 118800 (3) MRAP 21 32291813 32314784 N . N N 0.432741275 77.53082132 0.010638416 54.7 DM Glucocorticoid deficiency 2, 607398 (3) MRAP2 6 84033756 84090881 N . N Y -0.152648436 38.52520692 0.000348739 68.2 DM {Obesity, susceptibility to, BMIQ18}, 615457 (3) MRAS 3 138347648 138405534 N . N N -0.148016487 38.85512531 0.859946833 19.5 . . MRC2 17 62627401 62693597 N . N Y -0.937046659 8.913584534 0.985888158 10.8 . . MREG 2 215942805 216034096 N . N N -0.116090248 41.04300515 5.96E-06 79.2 . . MRFAP1 4 6640091 6642745 N . N Y -0.079531963 43.66498813 0.17706447 39.5 . . MRFAP1L1 4 6707701 6709880 N . N N 0.095908833 56.83278347 0.008908008 55.4 . . MRGBP 20 62796453 62801738 N . N N -0.11145818 41.38449962 0.905748428 17.5 . . MRGPRD 11 68980021 68980986 N . N Y 1.028526616 93.14117034 0.000404523 67.7 . . MRGPRE 11 3227698 3232386 N . N Y 1.04816991 93.33796377 4.76E-05 74 . . MRGPRF 11 69004395 69013409 N . N N . . 0.370675551 33.6 . . MRGPRG 11 3217944 3218813 N . N N . . . . . . MRGPRX1 11 18933813 18939507 N . N N -0.019204219 47.96550327 0.083147317 44.2 . . MRGPRX2 11 19054455 19060681 N . N N 0.915015508 91.38739364 0.002490612 61.1 . . MRGPRX3 11 18120955 18138480 N . N N 1.011754378 92.90386062 2.86E-08 87.7 . . MRGPRX4 11 18172837 18197348 N . N N 0.675862236 86.31706894 0.001818565 62.3 . . MRI1 19 13764532 13774282 N . N N 0.906555705 91.21375239 0.000533201 66.9 . . MRLN 10 59736692 59756041 N . N N . . . . . . MRO 18 50795120 50825402 N . N Y 0.358666204 73.88435492 0.000178042 70.2 . . MROH1 8 144148016 144261940 N . N N . . 0.587142255 27.8 . . MROH2A 2 233775679 233833423 N . N N . . 0.314233042 35.3 . . MROH2B 5 40998017 41071342 N . N N 2.249354331 98.92921225 1.29E-26 99.5 . . MROH6 8 143566187 143572971 N . N N 0.338220438 72.790415 1.27E-10 92.8 . . MROH7 1 54641754 54710266 N . N N 3.868118543 99.72796203 6.65E-19 98.4 . . MROH7-TTC4 1 54641786 54742308 N . N N . . . . . . MROH8 20 37101226 37179588 N . N N . . . . . . MROH9 1 170935471 171064765 N . N N 0.833583749 89.88250275 2.47E-06 80.9 . . MRPL1 4 77862520 77952790 N . N N -0.141317516 39.35289691 3.21E-05 75 . . MRPL10 17 47823272 47831534 N . N Y -0.013766433 48.44591075 0.288891351 36 . . MRPL11 11 66435075 66466738 N . N N -0.393703195 24.72072698 2.04E-05 76.2 . . MRPL12 17 81703357 81707526 N . N N -0.327132777 27.8867859 0.050197139 47 DM . MRPL13 8 120380761 120445402 N . N N 0.04243066 52.74063784 7.02E-07 83.1 . . MRPL14 6 44113454 44127457 N . N N -0.20804097 35.04659374 0.036998987 48.7 . . MRPL15 8 54135210 54147901 N . N N 0.575302895 83.26677085 1.34E-05 77.3 . . MRPL16 11 59806135 59810872 N . N N 0.472169912 79.41193494 0.003108656 60.2 . . MRPL17 11 6680782 6683401 N . N N -0.251145013 32.40145859 0.464121316 31 . . MRPL18 6 159789812 159798436 N . N N -0.100127206 42.09064074 0.000794103 65.5 . . MRPL19 2 75646783 75690851 N . N N -0.030686146 47.24199803 0.001318591 63.7 . . MRPL2 6 43054029 43059806 N . N N 0.125114793 59.14221219 0.001593721 62.8 . . MRPL20 1 1401908 1407313 N . N N -0.130139339 40.0821902 0.000171803 70.3 . . MRPL21 11 68891276 68903835 N . N N 0.463710367 79.01834809 5.46E-08 86.8 . . MRPL22 5 154941070 154969411 N . N N 0.349250172 73.35185507 3.44E-07 84.3 . . MRPL23 11 1947278 1984522 N . N N 0.742289427 87.92035654 1.46E-06 82 . . MRPL24 1 156737303 156741590 N . N N 0.020878273 51.13735023 0.001491227 63 . . MRPL27 17 50367857 50373214 N . N N 0.438331876 77.80285929 0.385344633 33.2 . . MRPL28 16 367384 370527 N . N N 0.31284098 71.27973607 2.42E-08 87.9 . . MRPL3 3 131462212 131502983 N . N N 0.309014254 71.0076981 2.81E-08 87.7 DM Combined oxidative phosphorylation deficiency 9, 614582 (3) MRPL30 2 99181079 99197626 N . N N 0.291946181 70.03530706 0.543252453 28.8 . . MRPL32 7 42932200 42948958 N . N N 0.44679135 78.19644614 0.00129078 63.7 . . MRPL33 2 27771717 27988087 N . N N 0.08457904 56.06876194 0.749164757 23.2 . . MRPL34 19 17292609 17306843 N . N N 0.274070774 68.90085084 0.040128443 48.3 . . MRPL35 2 86199355 86213794 N . N N 0.202865163 64.54245529 0.02093701 51.4 . . MRPL36 5 1798386 1801366 N . N N 0.254430455 67.72009029 0.254818113 36.9 . . MRPL37 1 54184041 54225464 N . N N -0.658073323 15.10678937 0.000268371 69 . . MRPL38 17 75898643 75905413 N . N N 1.008884495 92.87492041 4.09E-06 79.9 . . MRPL39 21 25585656 25607517 N . N N 0.341896466 72.98142039 0.000718692 65.9 . . MRPL4 19 10251901 10260045 N . N N 1.077374442 93.70261041 1.13E-07 86 . . MRPL40 22 19431902 19436075 N . N N 0.225374457 65.97210164 0.020081691 51.7 . . MRPL41 9 137551199 137552555 N . N N 0.04897698 53.33680616 0.213388425 38.3 . . MRPL42 12 93467488 93516213 N . N N 0.003958565 49.8061006 0.027881567 50.1 . . MRPL43 10 100969458 100987515 N . N N 0.586631015 83.74139029 0.000110896 71.5 . . MRPL44 2 223957404 223967714 N . N N 0.140120824 60.21878798 9.28E-06 78.2 DM ?Combined oxidative phosphorylation deficiency 16, 615395 (3) MRPL45 17 38297023 38323218 N . N N 0.709552984 87.11003068 0.00150597 63 . . MRPL46 15 88459476 88467419 N . N N 0.201101698 64.45563466 8.03E-07 82.9 . . MRPL47 3 179588285 179604654 N . N N 0.409275399 76.30375644 0.000142436 70.8 . . MRPL48 11 73787316 73865133 N . N N -0.179942957 36.73091393 0.138891985 41.2 FTV . MRPL49 11 65122183 65127371 N . N N 0.232877563 66.3946287 0.042302919 48 . . MRPL50 9 101387633 101398614 N . N N 0.550880798 82.46802107 0.00031841 68.5 . . MRPL52 14 22829879 22835037 N . N N 0.351971606 73.48498003 0.000108205 71.6 . . MRPL53 2 74471958 74473322 N . N N 0.118418051 58.60971233 0.22224943 37.9 . . MRPL54 19 3762664 3768575 N . N Y 0.323871546 71.97430109 0.085695868 44.1 . . MRPL55 1 228106679 228109312 N . N N 0.490854514 80.1238641 0.000411108 67.7 . . MRPL57 13 21176645 21179084 N . N N . . . . . . MRPL9 1 151759643 151763564 N . N N 0.658795771 85.87717775 0.05130785 46.9 . . MRPS10 6 42206801 42217865 N . N N 0.42987242 77.39769636 0.028212146 50 . . MRPS11 15 88467453 88480773 N . N N 0.030294875 51.83191526 0.000434482 67.5 . . MRPS12 19 38930548 38933162 N . N N 0.080902701 55.81408809 0.010426267 54.8 . . MRPS14 1 175010789 175023425 N . N N 0.018964694 50.97528506 0.001658745 62.6 . . MRPS15 1 36455718 36464437 N . N N 0.198231811 64.27620536 0.000342016 68.3 . . MRPS16 10 73248843 73252693 N . N N 0.080902701 55.81408809 0.082765903 44.2 DM Combined oxidative phosphorylation deficiency 2, 610498 (3) MRPS17 7 55951819 55956501 N . N N 0.624958462 84.90478671 0.742813785 23.4 . . MRPS18A 6 43671303 43687791 N . N N 0.217871355 65.53221045 0.001126108 64.2 . . MRPS18B 6 30617709 30626395 N . N N 0.428107326 77.30508769 0.000565209 66.7 . . MRPS18C 4 83455932 83469735 N . N N 0.094952155 56.76911501 0.008973186 55.3 . . MRPS2 9 135499984 135504673 N . N N 0.286505086 69.72275279 0.037223405 48.6 . . MRPS21 1 150293720 150308979 N . N N 0.442010439 77.98228859 0.353450051 34.1 . . MRPS22 3 139005806 139357223 N . N N -0.108434806 41.56971696 6.39E-05 73.2 DM Combined oxidative phosphorylation deficiency 5, 611719 (3) MRPS23 17 57834781 57850056 N . N N 0.074356355 55.24107195 0.049486058 47.1 . . MRPS24 7 43866558 43869893 N . N N 0.428916211 77.3340279 0.001657669 62.7 . . MRPS26 20 3045945 3048254 N . N N 0.033014066 52.06922498 0.187857588 39 . . MRPS27 5 72219409 72320646 N . N N 0.203971741 64.62927592 0.028586687 50 . . MRPS28 8 79918717 80030289 N . N N 0.492766925 80.17595647 0.00035548 68.1 . . MRPS30 5 44808925 44820428 N . N N 0.505201964 80.65057591 5.58E-05 73.6 . . MRPS31 13 40729135 40771173 N . N N -0.517427071 19.54042947 4.09E-05 74.4 . . MRPS33 7 141002610 141015228 N . N N -0.148973548 38.82039706 0.003395718 59.8 . . MRPS34 16 1771890 1773155 N . N N 0.140927298 60.26509232 5.52E-05 73.7 . . MRPS35 12 27710773 27756295 N . N Y 0.071637002 55.02112635 0.040928275 48.2 . . MRPS36 5 69217760 69230129 N . N N -0.051433536 45.65607455 0.746558797 23.2 . . MRPS6 21 34073224 34143034 N . N N 0.488942276 80.04283151 0.136243673 41.3 . . MRPS7 17 75261674 75266373 N . N N -0.065330609 44.75314001 0.002491618 61.1 . . MRPS9 2 105037983 105099960 N . N N 0.021986393 51.23574695 3.36E-06 80.3 . . MRRF 9 122264603 122331343 N . N N 0.168219607 62.41824391 3.58E-05 74.8 DM . MRS2 6 24402908 24426194 N . N N -0.25099172 32.42461075 8.85E-05 72.3 . . MRTO4 1 19251539 19260128 N . N N -0.127268446 40.25583145 0.86997792 19 . . MRVI1 11 10573091 10693988 N . N Y 1.185611377 94.91809921 0.001841215 62.2 . . MS4A1 11 60455752 60470760 N . N Y 0.046257695 53.10528448 0.015388169 53 DM Immunodeficiency, common variable, 5, 613495 (3) MS4A10 11 60785348 60801305 N . N N 0.716100076 87.30103606 1.79E-08 88.3 DM? . MS4A12 11 60492778 60507430 N . N N 0.789222232 88.97378017 4.96E-05 73.9 FTV . MS4A13 11 60515413 60542721 N . N N 0.24597088 67.24547086 0.053865836 46.6 . . MS4A14 11 60378530 60417756 N . N N 0.95842552 92.1687793 2.19E-16 97.6 . . MS4A15 11 60756953 60776732 N . N N 0.531239379 81.69242345 0.038468197 48.5 . . MS4A18 11 60729304 60744212 N . N N . . . . . . MS4A2 11 60088261 60098466 N . N Y 0.659751818 85.90032992 6.50E-05 73.1 DM {Atopy, susceptibility to}, 147050 (3) MS4A3 11 60056587 60071128 N Viable N Y 0.522779906 81.35092898 4.21E-05 74.3 DP . MS4A4A 11 60280541 60308972 N . N N 0.469300995 79.2961741 0.000743082 65.7 . . MS4A4E 11 60201253 60243088 N . N N . . 0.515839924 29.5 . . MS4A5 11 60429589 60455214 N . N N 0.460841539 78.85628292 0.009204538 55.3 . . MS4A6A 11 60172014 60184666 N . N N 0.372716004 74.56155583 1.49E-09 90.8 DP . MS4A6E 11 60334831 60396596 N . N N 0.489898374 80.08913585 0.720551081 24 DP . MS4A7 11 60378482 60395951 N . N N 0.554705396 82.60114603 9.27E-06 78.3 . . MS4A8 11 60699574 60715811 N . N N 0.143797178 60.51397812 0.002609212 61 . . MSANTD1 4 3244369 3271738 N Viable N Y -0.063568931 44.88047693 0.322172214 35.1 . . MSANTD2 11 124766498 124800673 N . N N -0.64226435 15.61034902 0.709971707 24.4 . . MSANTD3 9 100427156 100451711 N . N N -0.007220243 48.88580193 0.063002986 45.7 . . MSANTD3-TMEFF1 9 100442271 100577636 N . N N . . . . . . MSANTD4 11 105995623 106022403 N . N N -0.476237287 21.18423337 0.005461954 57.7 . . MSC 8 71841549 71844468 N . N Y -0.011047557 48.60797592 0.673682721 25.4 . . MSH2 2 47402969 47562311 N . N Y -1.181128061 5.793829947 0.867725631 19.2 DM Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3); Muir-Torre syndrome, 158320 (3); Mismatch repair cancer syndrome, 276300 (3) MSH3 5 80654648 80876460 N . N Y -0.491458858 20.53597268 4.57E-23 99.1 DM? Endometrial carcinoma, somatic, 608089 (3) MSH4 1 75796882 75913238 N . N Y -0.832267074 10.93361116 3.70E-15 96.9 DP . MSH5 6 31739948 31762834 N . N Y -0.573473538 17.54934306 6.14E-08 86.7 DFP . MSH5-SAPCD1 6 31740020 31764851 N . N N . . . . . . MSH6 2 47695530 47810101 N . N Y -2.188587383 1.302309429 . . DM Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3); Endometrial cancer, familial, 608089 (3); Mismatch repair cancer syndrome, 276300 (3) MSI1 12 120341330 120369180 N . N Y -0.17611458 36.99137582 0.997146451 7.4 . . MSL1 17 40122298 40136916 N . N N -0.456600078 21.99455924 0.984496891 11 . . MSL2 3 136148922 136197241 N . N N -0.6365207 15.76083811 0.889663742 18.2 . . MSL3 X 11758159 11775753 N . N N -0.340224471 27.22116108 0.945646874 15.2 . . MSLN 16 643262 768865 N . N Y 2.610222309 99.24176651 2.48E-15 97 . . MSLNL 16 769428 783370 N . N N . . 3.46E-16 97.5 . . MSMB 10 46033307 46046269 N . N N 0.107088402 57.71835388 0.098703187 43.2 DFP {Prostate cancer, hereditary, 13}, 611928 (3) MSMP 9 35752990 35756613 N . N N 0.579938151 83.45198819 0.443121281 31.6 . . MSN X 65588377 65741931 N . N Y -0.257690928 32.05996411 0.993557146 9 . . MSR1 8 16107878 16567490 N . N Y 0.63849777 85.30994964 8.21E-16 97.3 DM Prostate cancer, hereditary, 176807 (3); Barrett esophagus/esophageal adenocarcinoma, 614266 (3) MSRA 8 10054268 10428891 N . N Y -0.167501818 37.55860392 1.70E-06 81.6 . . MSRB1 16 1938210 1943326 N . N Y 0.253474025 67.62169358 0.003104711 60.2 . . MSRB2 10 23095506 23122013 N . N N 0.913916314 91.33530127 0.004247611 58.9 . . MSRB3 12 65278643 65488244 N . N Y -0.193034849 35.95531632 0.007026796 56.6 DM Deafness, autosomal recessive 74, 613718 (3) MSS51 10 73423579 73433561 N . N N 1.101798925 93.94570817 4.16E-05 74.4 . . MST1 3 49683947 49689501 N . N Y 1.636030838 97.66741911 1.73E-10 92.6 DFP T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3) MSTN 2 190055697 190062729 N . N Y 0.36808233 74.28951786 0.812914736 21.2 DM Muscle hypertrophy, 614160 (3) MSTO1 1 155610205 155614967 N . N N 0.754573317 88.21554668 0.041804485 48.1 . . MSX2 5 174724533 174730893 N . N Y -0.366562778 26.04618857 0.421492416 32.2 DM Craniosynostosis, type 2, 604757 (3); Parietal foramina 1, 168500 (3); Parietal foramina with cleidocranial dysplasia, 168550 (3) MT1A 16 56638666 56750276 N . N N 0.174616683 62.82340684 0.007776186 56.1 DFP . MT1B 16 56651899 56653204 N . N N 0.751562215 88.10557388 0.248269442 37.1 . . MT1E 16 56625475 56627112 N . N N 0.584573969 83.6603577 0.659212996 25.8 . . MT1F 16 56657694 56660698 N . N N 0.380072103 74.92620247 0.053849699 46.6 . . MT1G 16 56666731 56668065 N . N N 0.502036857 80.5116629 0.008119484 55.8 . . MT1H 16 56669814 56671129 N . N N 0.623046877 84.84111825 0.054841215 46.4 . . MT1HL1 1 237004103 237004418 N . N N . . 0.020062126 51.7 . . MT1M 16 56632233 56633986 N . N N 0.403538004 75.98541413 9.84E-05 71.9 . . MT1X 16 56682424 56684196 N . N N 0.265611248 68.3972912 0.049611192 47 . . MT2A 16 56608199 56609497 N . N N 0.212132538 65.20229206 0.053869187 46.6 DFP . MT3 16 56589074 56591088 N . N Y 0.243101669 67.0718296 0.25413347 37 . . MT4 16 56565049 56568957 N . N N 0.38757536 75.25033281 0.007994585 55.9 . . MTA1 14 105419820 105470729 N . N Y -1.060390185 7.067199167 0.999747857 4.5 . . MTA3 2 42494569 42756947 N . N Y -0.569949107 17.64195173 0.855163472 19.7 . . MT-ATP6 MT 8527 9207 N . N N . . . . . . MT-ATP8 MT 8366 8572 N . N N . . . . . . MTCH1 6 36968141 36986298 N . N N -0.321544247 28.21670429 0.964878856 13.5 . . MTCL1 18 8705661 8832778 N . N N . . . . . . MT-CO1 MT 5904 7445 N . N N . . . . . . MT-CO2 MT 7586 8269 N . N N . . . . . . MT-CO3 MT 9207 9990 N . N N . . . . . . MTCP1 X 155061622 155147937 N . N N 0.075162561 55.29316432 0.342313099 34.4 . . MT-CYB MT 14747 15887 N . N N . . . . . . MTDH 8 97644179 97728770 N . N Y -0.279089927 30.68819818 0.721809341 24 . . MTERF1 7 91692008 91880720 N . N N . . . . . . MTERF2 12 106977291 106987166 N . N N . . . . . . MTFP1 22 30425530 30429053 N . N N 0.333287484 72.48364878 0.316869739 35.2 . . MTFR1 8 65644734 65771261 N . N N 0.078183267 55.57099033 2.18E-05 76 . . MTFR1L 1 25818640 25832942 N . N N 0.266716005 68.46095966 0.431750878 31.9 . . MTFR2 6 136231024 136250335 N . N N 0.187052315 63.62794467 0.000151538 70.6 . . MTG1 10 133394094 133421307 N . N N 0.127984973 59.3100654 0.062671961 45.7 . . MTG2 20 62183029 62203568 N . N N 1.29609522 95.7457892 0.000608857 66.4 . . MTHFD2L 4 74114174 74303099 N Viable N Y 0.267672556 68.5362042 0.000263185 69 . . MTHFR 1 11785723 11806920 N . N Y 0.097319489 56.92539214 2.46E-07 84.9 DM Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia, susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism, susceptibility to}, 188050 (3) MTHFS 15 79833585 79897379 Y Viable N Y 0.481438994 79.79973375 0.04065105 48.2 DM? . MTHFSD 16 86530176 86555235 N . N N 0.496742012 80.34380969 3.76E-09 89.9 . . MTIF2 2 55236595 55269347 N . N N -0.641959288 15.6219251 9.07E-08 86.2 . . MTIF3 13 27435643 27450591 N . N N 0.181312488 63.27487411 0.029635307 49.7 . . MTL5 11 68707440 68751564 N . N N 0.40846756 76.27481623 0.033221402 49.2 . . MTMR1 X 150692971 150765103 N . N Y 0.132617807 59.62261967 0.982418902 11.4 . . MTMR10 15 30938941 30991607 N . N N 0.612160073 84.52856399 0.035049797 48.9 . . MTMR11 1 149928651 149936898 N . N N -0.322043675 28.14724779 7.33E-13 95.4 . . MTMR12 5 32226994 32313009 N Viable N Y 0.253773539 67.69115008 0.997884435 7 DM? . MTMR14 3 9649433 9702394 N . N Y -0.885893782 9.868611449 0.002939821 60.4 DM {Centronuclear myopathy, autosomal, modifier of}, 160150 (3) MTMR3 22 29883155 30030866 N . N Y -1.082619493 6.760432946 0.994951612 8.4 . . MTMR4 17 58489529 58517905 N . N N -0.472915409 21.34051051 0.997305474 7.3 . . MTMR6 13 25246201 25288009 N . N N -0.177723518 36.87561498 3.01E-06 80.6 . . MTMR7 8 17298030 17413528 N . N N -1.552800803 3.061874168 1.64E-09 90.7 . . MTMR8 X 64268081 64395431 N . N N 0.872057982 90.62916016 1.34E-11 94.1 DM? . MTMR9 8 11284416 11328146 N . N N -0.381111893 25.38056376 0.210866149 38.4 DM? . MT-ND1 MT 3307 4262 N . N N . . . . . . MT-ND2 MT 4470 5511 N . N Y . . . . . . MT-ND3 MT 10059 10404 N . N N . . . . . . MT-ND4 MT 10760 12137 N . N N . . . . . . MT-ND4L MT 10470 10766 N . N N . . . . . . MT-ND5 MT 12337 14148 N . N N . . . . . . MT-ND6 MT 14149 14673 N . N Y . . . . . . MTNR1A 4 186533655 186555567 N . N Y 0.23207049 66.37147653 0.003032392 60.3 DM . MTNR1B 11 92969720 92985066 N Viable N Y 0.205885193 64.72188459 0.00870273 55.5 DM {Diabetes mellitus, type 2, susceptiblity to}, 125853 (3) MTO1 6 73461578 73509236 N . N Y -1.058477476 7.090351334 9.82E-05 72 DM Combined oxidative phosphorylation deficiency 10, 614702 (3) MTPAP 10 30309801 30374448 N . N N -0.740609356 12.8726052 0.910575497 17.3 DM Ataxia, spastic, 4, 613672 (3) MTPN 7 135926761 135977353 N . N N 0.030143764 51.8087631 0.754654167 23 . . MTRF1 13 41216369 41263577 N . N Y 0.628929435 85.03212363 1.54E-07 85.6 . . MTRNR2L1 17 22523111 22524663 N . N N . . . . . . MTRNR2L10 X 55181391 55182920 N . N N . . . . . . MTRNR2L11 1 237943724 237945275 N . N N . . . . . . MTRNR2L12 3 96617188 96618236 N . N N . . . . . . MTRNR2L13 4 116298876 116300320 N . N N . . . . . . MTRNR2L3 20 57358442 57359980 N . N N . . . . . . MTRNR2L4 16 3370979 3372740 N . N N . . . . . . MTRNR2L5 10 55599303 55600041 N . N N . . . . . . MTRNR2L6 7 142666272 142667718 N . N N . . . . . . MTRNR2L7 10 37601440 37602974 N . N N . . . . . . MTRNR2L8 11 10507887 10509189 N . N N . . . . . . MTRR 5 7851186 7906025 N . N N -0.074293017 44.10487932 4.11E-07 84 DM Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) MTSS1 8 124550790 124728429 N . N Y -0.270478912 31.25542629 0.999823848 4.2 . . MTSS1L 16 70661204 70686066 N . N Y -0.230093763 33.72692018 0.86986055 19.1 . . MTURN 7 30134810 30162762 N Viable N Y 0.137100934 59.98726631 . . . . MTUS1 8 17643795 17800917 N . N Y 2.262173949 98.94657637 1.14E-05 77.7 DP . MTUS2 13 28820348 29505947 N . N N 0.705716972 87.02321005 0.330673094 34.8 . . MTX1 1 155208699 155213824 N . N N . . 0.19822129 38.8 DP . MTX2 2 176269395 176338025 N . N N -0.045692193 46.15384615 0.081371808 44.3 . . MTX3 5 79976731 79991262 N . N N 0.378306375 74.85095792 0.100351117 43.1 . . MUC1 1 155185824 155192916 N . N Y 0.204928458 64.67558025 0.730964975 23.7 DM Medullary cystic kidney disease 1, 174000 (3) MUC12 7 100969623 101018949 N . N N . . . . . . MUC13 3 124905442 124953819 N . N N . . 0.025133916 50.5 DP . MUC15 11 26559033 26572233 N . N N 0.149537247 60.98280952 3.93E-05 74.6 . . MUC16 19 8848844 8981342 N . N N 15.60105068 99.97105979 . . . . MUC17 7 101020072 101058745 N . N N 16.89936876 99.97684783 . . . . MUC20 3 195720882 195741123 N . N N . . . . . . MUC21 6 30983718 30989903 N . N N 4.849172727 99.84372287 0.331419151 34.8 . . MUC22 6 31010474 31035402 N . N N . . . . . . MUC3A 7 100949555 100968346 N . N N . . . . DP . MUC4 3 195746765 195812277 N . N N . . . . DP . MUC5AC 11 1157953 1201138 N . N Y . . . . . . MUC5B 11 1223066 1262172 N . N Y 21.745047 99.98263587 0.999999706 1.3 DP {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) MUC6 11 1012821 1036706 N . N N 21.91064912 99.98842392 1.09E-32 99.8 DFP . MUC7 4 70430492 70482997 N . N N 1.349430616 96.1046478 9.14E-05 72.2 DP {Asthma, protection against}, 600807 (3) MUCL1 12 54830519 54858393 N . N N 0.572434794 83.18573826 1.15E-05 77.7 . . MUL1 1 20499448 20508161 N . N N -0.110348593 41.44238004 3.49E-06 80.2 . . MUM1 19 1285893 1378431 N . N N 0.173154201 62.77710251 0.032092633 49.4 . . MUM1L1 X 106168305 106208956 N . N N -0.123440781 40.55680963 0.635560374 26.5 . . MURC 9 100578079 100587906 N . N Y 0.218977775 65.62481912 3.73E-07 84.2 DM . MUSTN1 3 52833114 52835219 N . N N 0.615543438 84.60380853 0.001752188 62.4 . . MUTYH 1 45329163 45340470 N . N Y -0.073487243 44.16854778 8.57E-11 93 DM Adenomas, multiple colorectal, 608456 (3); Gastric cancer, somatic, 613659 (3); Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3) MVB12A 19 17405722 17433724 N . N N 0.358666204 73.88435492 0.000679169 66.1 . . MVB12B 9 126326849 126507041 N . N N -0.515667713 19.60409793 0.622016654 26.9 . . MVD 16 88651935 88663161 N . N N 0.54080415 82.10337443 2.16E-12 95 . . MVK 12 109573255 109598117 N . N N -0.342941981 27.12276437 0.042161397 48 DM Mevalonic aciduria, 610377 (3); Hyper-IgD syndrome, 260920 (3); Porokeratosis 3, disseminated superficial actinic, 175900 (3) MVP 16 29820394 29848039 N . N Y -0.814392652 11.30404584 0.007448525 56.3 . Mitral valve prolapse, myxomatous 1 (2) MX1 21 41420304 41459214 N . N N -0.440180607 22.72964056 4.50E-09 89.7 DFP . MX2 21 41361943 41409390 N . N Y -0.35764605 26.43398738 7.01E-08 86.6 . . MXD1 2 69897688 69942945 N . N Y -0.274611335 31.00075245 0.388108481 33.1 . . MXD3 5 177301461 177312757 N . N Y 0.234790597 66.51038954 0.001569929 62.9 . . MXD4 4 2247432 2262294 N . N N 0.270393157 68.7156335 0.896936709 17.9 . . MXI1 10 110207605 110287365 N . N Y -0.076661182 43.91387394 0.707739926 24.4 . Neurofibrosarcoma (3); {Prostate cancer, susceptibility to}, 176807 (3) MXRA5 X 3308565 3346641 N . N N 2.849287423 99.42698385 0.37648408 33.4 DM? . MXRA7 17 76672551 76711016 N Viable N Y . . 0.013741642 53.6 . . MXRA8 1 1352689 1361777 N . N N -0.236942655 33.25230075 0.004712972 58.4 . . MYADM 19 53866223 53876437 N . N N -0.304469805 29.22961162 0.148243112 40.7 . . MYADML2 17 81939645 81947233 N . N N . . . . . . MYBL1 8 66562175 66614247 N . N Y -0.1984707 35.58488163 0.998332687 6.7 . . MYBPC1 12 101568353 101686018 N . N N -1.349087618 4.31209122 0.657926418 25.8 DM Arthrogryposis, distal, type 1B, 614335 (3); Lethal congenital contracture syndrome 4, 614915 (3) MYBPC2 19 50432903 50466321 N . N N 1.520759045 97.05967471 4.01E-17 97.8 FTV . MYBPC3 11 47331397 47352702 N . N Y 0.128595019 59.31585345 1.35E-06 82.1 DM Cardiomyopathy, hypertrophic, 4, 115197 (3); Cardiomyopathy, dilated, 1MM, 615396 (3); Left ventricular noncompaction 10, 615396 (3) MYBPH 1 203167811 203175813 N . N N 0.414207864 76.57000637 3.22E-11 93.6 . . MYCBP 1 38862964 38874105 N . N N 0.325637024 72.06690976 0.739328409 23.5 . . MYCBPAP 17 50508384 50531501 N . N N 2.060154188 98.65717428 0.001733006 62.4 . . MYCL 1 39895426 39902256 N . N Y -0.346770353 26.9201829 0.358812473 33.9 . . MYCT1 6 152697895 152724567 N . N N 0.805185239 89.25160618 6.34E-05 73.2 . . MYD88 3 38138478 38143022 N . N Y -0.209801572 34.94819702 0.711854614 24.3 DM Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3); Macroglobulinemia, Waldenstrom, somatic, 153600 (3) MYDGF 19 4641374 4670370 N . N Y . . . . . . MYEF2 15 48134631 48178517 N . N N -0.342941981 27.12276437 0.999492304 5.2 . . MYEOV 11 69294138 69367726 N . N N 0.681452437 86.46755803 0.001192906 64 . . MYEOV2 2 240126563 240136807 N . N N 0.206691474 64.80870522 0.000104799 71.7 . . MYH1 17 10492307 10518543 N . N Y 0.451103974 78.39323957 1.29E-29 99.7 . . MYH13 17 10298084 10373130 N . N N 1.1736446 94.7791862 1.89E-29 99.6 DP . MYH14 19 50188186 50310545 N . N Y 1.468602717 96.82815304 0.999847921 4.1 DM . MYH15 3 108380369 108529322 N . N N -0.312721275 28.73762806 4.74E-39 99.9 DP . MYH2 17 10521148 10549957 N . N N -1.709008901 2.413613475 1.37E-08 88.5 DM Proximal myopathy and ophthalmoplegia, 605637 (3) MYH3 17 10628526 10657309 N . N N -1.895726289 1.875325577 3.60E-13 95.7 DM Arthrogryposis, distal, type 2A, 193700 (3); Arthrogryposis, distal, type 2B, 601680 (3); Arthrogryposis, distal, type 8, 178110 (3) MYH4 17 10443290 10469559 N . N Y 1.145348053 94.47820802 8.81E-35 99.8 DM? . MYH7 14 23412738 23435718 N . N N -4.368176026 0.144701048 0.000145766 70.7 DM Cardiomyopathy, hypertrophic, 1, 192600 (3); Cardiomyopathy, dilated, 1S, 613426 (3); Myopathy, myosin storage, autosomal dominant, 608358 (3); Liang distal myopathy, 160500 (3); Scapuloperoneal syndrome, myopathic type, 181430 (3); Left ventricular noncompaction 5, 613426 (3); Myopathy, myosin storage, autosomal recessive, 255160 (3) MYH7B 20 34975403 35002437 N . N N -0.086198386 43.08618394 1.33E-23 99.2 DM . MYH8 17 10390322 10421950 N . N N -0.52380009 19.27417955 1.61E-34 99.8 DM Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3) MYL10 7 101613325 101629296 N . N N 0.120331361 58.7428373 0.00804655 55.9 . . MYL12A 18 3247481 3256236 N . N N -0.088948948 42.87202639 0.001501508 63 . . MYL12B 18 3261909 3278284 N . N Y -0.021421177 47.83816635 0.290511999 36 . . MYL3 3 46857872 46882169 N . N N -0.275568538 30.94287203 0.888080621 18.3 DM Cardiomyopathy, hypertrophic, 8, 608751 (3) MYL4 17 47200446 47223679 N . N N 0.210368257 65.09231927 0.000175625 70.2 . . MYL5 4 673580 682033 N . N N 0.615687917 84.61538462 4.43E-08 87.1 . . MYL6 12 56158161 56163496 N . N N 0.086492393 56.17873473 0.25661637 36.9 . . MYL6B 12 56152256 56159647 N . N N -0.304623579 29.21803554 0.003733811 59.3 . . MYL9 20 36541484 36551447 N . N N -0.275568538 30.94287203 0.066042135 45.4 . . MYLIP 6 16129125 16148248 N Viable N Y -0.326021923 27.98518261 0.020226887 51.6 DM . MYLK 3 123610049 123884331 N . N Y -0.318315109 28.3845575 9.38E-06 78.2 DM Aortic aneurysm, familial thoracic 7, 613780 (3) MYLK2 20 31819308 31834689 N . N Y -0.030382941 47.27093824 0.220320912 38 DM Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3) MYLK3 16 46703369 46790407 N . N Y 0.08055195 55.74463159 0.140967535 41 . . MYLK4 6 2663629 2750966 N . N N -0.084012126 43.26561324 1.66E-11 94.1 . . MYNN 3 169772831 169789716 N . N N -0.318518891 28.37876946 0.650144394 26 . . MYO10 5 16661914 16936276 N . N Y -0.435523428 22.93801007 0.00396952 59.1 . . MYO15A 17 18108706 18179802 N . N Y -0.769812224 12.20119234 . . DM Deafness, autosomal recessive 3, 600316 (3) MYO15B 17 75588058 75626501 N . N N . . . . . . MYO16 13 108596152 109208007 N . N N -0.913331324 9.318747468 0.998667246 6.3 . . MYO19 17 36495633 36543435 N . N N 0.517803265 81.14834751 2.43E-18 98.3 . . MYO1A 12 57028517 57051198 N . N Y 1.412036667 96.43456619 1.95E-35 99.8 DM Deafness, autosomal dominant 48, 607841 (3) MYO1B 2 191245185 191425389 N . N N -1.792008176 2.222608092 0.878004108 18.7 . . MYO1C 17 1464098 1492812 N . N N -0.530748449 18.95583724 3.89E-08 87.3 DM? . MYO1D 17 32492522 32877177 N . N N -0.676462075 14.59744169 3.30E-09 90 . . MYO1F 19 8520790 8577577 N . N Y -1.145384873 6.10638421 0.158022191 40.3 DM? . MYO1G 7 44962662 44979098 N . N Y 0.308515249 70.97296984 7.64E-07 83 . . MYO1H 12 109347903 109455523 N . N N 0.574955444 83.24940673 2.92E-17 97.9 . . MYO3A 10 25934267 26212527 N . N Y 1.019311288 93.00804538 6.59E-30 99.7 DM Deafness, autosomal recessive 30, 607101 (3) MYO3B 2 170178145 170655171 N . N N 0.950632634 92.01250217 4.47E-20 98.7 . . MYO5B 18 49822813 50195093 N . N N 0.095527005 56.81541934 5.42E-10 91.7 DM Microvillus inclusion disease, 251850 (3) MYO5C 15 52192322 52295798 N . N N -0.5839644 17.265729 4.35E-18 98.2 . . MYO6 6 75749192 75919537 N . N N -1.506685884 3.322336054 0.017788399 52.2 DM Deafness, autosomal dominant 22, 606346 (3); Deafness, autosomal recessive 37, 607821 (3); Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3) MYO7A 11 77128264 77215239 N . N Y 0.977362481 92.44081727 5.38E-25 99.3 DM Usher syndrome, type 1B, 276900 (3); Deafness, autosomal recessive 2, 600060 (3); Deafness, autosomal dominant 11, 601317 (3) MYO7B 2 127535802 127637729 N Viable N Y 0.952157323 92.03565434 6.38E-16 97.4 DM? . MYO9A 15 71822289 72118577 N Viable N Y -0.284338968 30.38143196 0.999991726 2.5 . . MYO9B 19 17075781 17214537 N . N Y -0.782894194 11.91757828 0.999998877 1.7 DP {Celiac disease, susceptibility to, 4}, 609753 (3) MYOC 1 171635417 171652683 N . N Y 0.981739879 92.5276379 5.02E-08 87 DM Glaucoma 1A, primary open angle, 137750 (3) MYOD1 11 17719568 17722131 N . N Y -0.382371374 25.31110725 2.68E-05 75.5 . . MYOF 10 93306429 93482317 N . N Y 0.517859049 81.15413556 2.08E-36 99.9 DM? . MYOM1 18 3066807 3220108 N . N N 1.578691216 97.37801702 1.08E-21 99 DM . MYOM2 8 2045040 2165552 N . N N 3.640857875 99.68744574 1.49E-55 100 . . MYOM3 1 24056035 24112175 N . N N 2.989425543 99.53695665 9.28E-28 99.5 . . MYOT 5 137867791 137887851 N . N Y -0.173091047 37.17659316 2.64E-05 75.5 DM Muscular dystrophy, limb-girdle, type 1A, 159000 (3); Myopathy, myofibrillar, 3, 609200 (3); Myopathy, spheroid body, 182920 (3) MYOZ1 10 73631654 73641757 N Viable N Y -0.080336605 43.59553163 0.004592103 58.6 . . MYOZ2 4 119135784 119187789 N . N N 0.439288148 77.85495167 0.016734638 52.6 DM Cardiomyopathy, hypertrophic, 16, 613838 (3) MYOZ3 5 150660874 150679365 N . N N 0.478716768 79.67818487 0.346673296 34.3 . . MYPN 10 68106117 68212017 N . N N -0.251204251 32.35515425 0.065221397 45.5 DM Cardiomyopathy, dilated, 1KK, 615248 (3); Cardiomyopathy, hypertrophic, 22, 615248 (3); Cardiomyopathy, familial restrictive, 4, 615248 (3) MYPOP 19 45890020 45902604 N . N N . . 0.810391051 21.3 . Proximal myopathy and ophthalmoplegia, 605637 (3) MYRF 11 61752642 61788518 N . N N -0.901711179 9.550269144 0.999847803 4.1 . . MYRFL 12 69825304 69959097 N . N N . . . . . . MYRIP 3 39808914 40260321 N . N N 0.543027199 82.16704289 0.000902541 65.1 . . MYT1L 2 1789113 2331260 N . N Y -1.664556841 2.593042774 0.999963989 3.1 DM Mental retardation, autosomal dominant 39, 616521 (3) MYZAP 15 57591941 57685364 N . N N 0.579276796 83.42304798 2.21E-09 90.4 . . MZB1 5 139387480 139390081 N . N N . . 0.003811455 59.3 . . MZF1 19 58561931 58573575 N . N Y 1.264321101 95.53741969 1.81E-06 81.5 . . MZT1 13 72708357 72727687 N . N N 0.023597424 51.32256758 0.611862318 27.1 . . MZT2A 2 131464900 131492743 N . N N . . 0.005567677 57.6 . . MZT2B 2 130181737 130190729 N . N N . . 0.575112152 28.1 . . N4BP1 16 48538726 48620148 N . N N -1.158896251 6.002199456 0.361226868 33.9 . . N4BP2 4 40056826 40158252 N . N N 0.310906049 71.10030677 0.000473118 67.2 . . N4BP2L1 13 32400723 32428178 N . N N -0.299035003 29.50743763 0.945268895 15.2 . . N4BP2L2 13 32432417 32538885 N . N N 0.4981674 80.38432598 3.06E-06 80.5 . . N4BP3 5 178113443 178126087 N Viable N Y -0.094082712 42.53631996 0.276863142 36.3 . . N6AMT2 13 20728731 20773958 N . N N -0.160151469 38.02743532 0.00099088 64.7 . . NAA10 X 153929242 153935223 N . N N -0.149930626 38.75094056 0.1884278 39 DM N-terminal acetyltransferase deficiency, 300855 (3); ?Microphthalmia, syndromic 1, 309800 (3) NAA11 4 79225694 79326050 N . N N -0.045692193 46.15384615 0.002822275 60.6 . . NAA15 4 139301455 139420033 N . N N -0.91605881 9.284019216 0.99857684 6.4 DM . NAA16 13 41311205 41377030 N . N N -1.066793815 6.974590496 1.71E-10 92.6 . . NAA20 20 20017116 20033655 N . N N -0.08703502 43.03409157 0.013606364 53.6 . . NAA25 12 112026689 112109022 N . N N -0.652332274 15.32094692 0.999989964 2.5 . . NAA30 14 57390544 57415917 N . N N 0.033165214 52.10395323 0.973715071 12.6 . . NAA35 9 85941146 86022298 N . N N -0.197513786 35.67170226 0.999995237 2.2 . . NAA38 17 7856685 7885238 N . N N -0.022378042 47.78028593 0.008272463 55.7 . . NAA40 11 63938959 63957328 N . N N -0.203255573 35.26075129 0.005446684 57.8 . . NAA50 3 113716460 113746300 N . N N -0.066439705 44.63737917 0.876848813 18.8 . . NAA60 16 3443611 3486963 N . N N 0.012418429 50.43120912 0.908883492 17.4 . . NAAA 4 75913657 75941051 N . N Y 0.376541981 74.76413729 3.31E-06 80.3 . . NAALAD2 11 90131515 90192894 N . N N 0.124460775 59.08433177 7.02E-15 96.8 . . NAALADL1 11 65044818 65058549 N . N N 0.339330085 72.82514325 3.83E-12 94.7 . . NAALADL2 3 174438573 175810552 N . N N 0.981095185 92.52184986 3.04E-06 80.5 . . NAB1 2 190646746 190692766 N . N Y -0.93393763 8.95988887 0.848508408 20 . . NAB2 12 57088894 57095476 N Viable N Y -0.343899023 27.05330787 0.987535198 10.5 . . NABP1 2 191678068 191696659 N . N N -0.138599374 39.52075013 0.014256968 53.4 . . NACA2 17 61590426 61591202 N . N N 0.546245901 82.28280373 0.098926282 43.2 . . NACAD 7 45080438 45088914 N . N Y . . 0.365728808 33.8 . . NACC2 9 136006537 136095285 N Viable N Y . . 0.134607341 41.4 . . NADK 1 1751232 1780457 N . N N 0.013678077 50.54696996 0.00126769 63.8 . . NADK2 5 36192592 36242279 N . N N 0.143797178 60.51397812 0.907647887 17.5 . ?2,4-dienoyl-CoA reductase deficiency, 616034 (3) NADSYN1 11 71453109 71524107 N Viable N Y -0.034864321 46.94101985 2.45E-09 90.3 . . NAF1 4 163110073 163166921 N . N N -0.219065877 34.38675696 0.959542887 14 . . NAGA 22 42058354 42070842 N . N Y -0.25849473 31.97314349 2.02E-06 81.3 DM Schindler disease, type I, 609241 (3); Kanzaki disease, 609242 (3); Schindler disease, type III, 609241 (3) NAGK 2 71064344 71079805 N Viable N Y 0.370952088 74.45158303 8.58E-09 89.1 . . NAGLU 17 42536172 42544449 N . N Y -0.765838674 12.29380101 0.000404074 67.7 DM Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3); ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3) NAGPA 16 5024844 5034141 N . N Y 0.157191398 61.55582566 2.86E-07 84.6 DM . NAIF1 9 128061233 128068206 N . N N -0.141317516 39.35289691 0.022545578 51.1 . . NAIP 5 70968483 71025114 N . N Y . . 0.000869318 65.2 DM . NANOGNB 12 7765216 7774121 N . N N . . . . . . NANOGP8 15 35084193 35085110 N . N N . . . . . . NANOS1 10 119029716 119033732 N . N Y . . 0.180809141 39.3 DM Spermatogenic failure 12, 615413 (3) NANOS2 19 45913214 45914870 N . N Y -0.094538075 42.4726515 0.575905924 28.1 . . NANOS3 19 13862063 13880757 N . N Y -0.192077745 36.04213695 0.007905076 56 . . NANP 20 25612935 25624175 N . N N -0.454685281 22.09295595 0.026541647 50.3 . . NANS 9 98056739 98083075 N . N N -0.396420408 24.5991781 0.000176879 70.2 . . NAP1L1 12 76036587 76085033 N . N N -0.539134657 18.60276668 0.993880985 8.9 . . NAP1L2 X 73212299 73214848 N . N N -0.239813643 33.09023557 0.791659154 21.9 . . NAP1L3 X 93670930 93673568 N . N N 0.767667839 88.51073682 0.411770226 32.5 . . NAP1L4 11 2944431 2992377 N . N N -0.087839602 42.97621115 0.99573103 8.1 . . NAP1L5 4 88695915 88698235 N . N N -0.151691433 38.58887538 0.78862439 22 . . NAP1L6 X 73126037 73128080 N . N N . . . . . . NAPB 20 23374519 23421519 N . N Y -0.064525847 44.79365631 0.989108778 10.1 . . NAPEPLD 7 103099776 103149560 N . N Y -0.101888702 42.01539619 0.062721499 45.7 . . NAPG 18 10525905 10552761 N . N N -0.10763024 41.63338543 0.086131935 44 . . NAPRT 8 143574785 143578649 N . N N . . . . . . NAPSA 19 50358477 50365830 N . N N 0.503288375 80.58111941 7.96E-07 83 . . NARF 17 82458180 82490537 N . N N -0.549200816 18.232332 0.001224919 63.9 . . NARS 18 57600656 57622213 N . N N -0.936655249 8.925160618 3.48E-07 84.3 . . NARS2 11 78435961 78574874 N . N N -0.010744443 48.64270417 0.000838256 65.4 FTV Combined oxidative phosphorylation deficiency 24, 616239 (3) NAT1 8 18170477 18223689 N . N Y 0.049127994 53.35995833 2.85E-10 92.2 DFP Orthostatic intolerance, 604715 (3) NAT14 19 55485004 55487568 N . N N . . 0.143168129 40.9 . . NAT16 7 101170493 101180276 N . N N -0.654398695 15.22255021 5.91E-05 73.4 . . NAT2 8 18391245 18401218 N Viable N Y 1.270564352 95.56057186 0.022607866 51 DFP [Acetylation, slow], 243400 (3) NAT6 3 50296402 50299421 N . N N 0.397138302 75.69601204 0.402945153 32.7 . . NAT8 2 73640832 73642393 N . N N 0.914059295 91.35266539 0.075651692 44.7 . . NAT8L 4 2059512 2069089 N . N Y -0.177071645 36.92770736 0.324677884 35 DM ?N-acetylaspartate deficiency, 614063 (3) NAT9 17 74770547 74776367 N . N N -0.083207293 43.33506975 0.080661177 44.4 . . NATD1 17 21238870 21253410 N Viable N Y . . . . . . NAV1 1 201622885 201826969 N . N N -2.225256472 1.24442901 0.999999985 0.8 DM? . NAV2 11 19350724 20121598 N . N N -1.979027737 1.70168432 0.997517125 7.3 DM? . NAV3 12 77830905 78213008 N . N N -3.790405915 0.295190137 0.999999399 1.6 . . NBAS 2 15166909 15561330 N . N N -0.357220576 26.43977542 1.89E-25 99.4 DM? Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3); Infantile liver failure syndrome 2, 616483 (3) NBEAL1 2 203014879 203226378 N . N N -0.491458858 20.53597268 1.09E-10 92.9 . . NBEAL2 3 46979683 47009703 N . N Y -1.347422713 4.317879261 0.862533062 19.4 DM Gray platelet syndrome, 139090 (3) NBL1 1 19640554 19658456 N . N Y -0.003544497 49.14626382 0.108864873 42.7 . . NBPF1 1 16562319 16613562 N . N N . . . . DM . NBPF10 1 146064699 146144942 N . N N . . 2.81E-13 95.7 . . NBPF11 1 148102046 148152322 N . N N . . . . . . NBPF12 1 146938744 146996202 N . N N . . 0.210636207 38.4 . . NBPF14 1 148531385 148679751 N . N N . . . . . . NBPF15 1 144421386 144461674 N . N N . . 0.123939064 41.9 . . NBPF19 1 149390623 149556361 N . N N . . . . . . NBPF20 1 145289900 145405778 N . N N . . 0.000445919 67.4 . . NBPF26 1 120805418 120841481 N . N N . . . . . . NBPF3 1 21440128 21485005 N . N N 1.53447182 97.1407073 1.98E-11 93.9 . . NBPF4 1 108223341 108244081 N . N N . . 0.346635144 34.3 . . NBPF6 1 108375799 108471002 N . N N . . 0.087453851 44 . . NBPF9 1 149054027 149103561 N . N N . . . . . . NBR1 17 43170481 43211689 N Viable N Y 0.061566363 54.27446895 0.000436707 67.5 . . NCALD 8 101686543 102124907 Y Viable N Y -0.193034849 35.95531632 0.817423495 21.1 DFP . NCAM2 21 20998315 21543329 N . N Y -0.505944787 19.98032066 0.922157338 16.6 . . NCAN 19 19211973 19252233 N . N Y -1.154671147 6.042715749 0.154546738 40.4 DP . NCAPD2 12 6493356 6531955 N . N N -0.006311647 48.96683452 5.93E-08 86.8 DM? . NCAPD3 11 134150119 134225454 N . N N -0.781940841 11.94073045 0.073152087 44.8 . . NCAPG 4 17810902 17844862 N . N N -0.669103383 14.78844707 0.618144197 27 . . NCBP1 9 97633626 97673748 N . N N -1.119613893 6.37842218 0.999956109 3.2 . . NCBP2 3 196935402 196942597 N . N N -0.095495045 42.38583087 0.266930249 36.6 . . NCBP2-AS2 3 196942623 196943540 N . N N . . . . . . NCBP2L X 107777733 107794682 N . N N . . 0.12966993 41.6 . . NCCRP1 19 39196961 39201884 N . N N 0.567799588 82.98894484 0.000145564 70.7 . . NCEH1 3 172630249 172711218 N . N Y -0.576495149 17.46252243 0.001074511 64.4 . . NCF1 7 74773962 74789315 N . N N . . 0.923359561 16.5 DM Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) NCF2 1 183555563 183590876 N . N N 0.342853172 73.02193668 8.51E-05 72.4 DM Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) NCF4 22 36860988 36878015 Y Viable N Y 0.041776336 52.69433351 7.90E-06 78.7 DM Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3) NCK1 3 136862208 136949823 N . N Y -0.308297979 28.9923019 0.001035026 64.6 DFP . NCK2 2 105744897 105894274 N . N Y -0.834478112 10.89309487 0.702843118 24.5 . . NCKAP1L 12 54497711 54548238 N . N N -1.093943487 6.650460149 0.990439664 9.9 . . NCKAP5 2 132671799 133568463 N . N N 0.984866801 92.59130636 0.524874192 29.3 DM? . NCKAP5L 12 49791146 49828750 N . N N -0.674411145 14.63216994 0.565619252 28.3 . . NCKIPSD 3 48673844 48686364 N . N Y 0.154472727 61.33588007 0.007131362 56.5 . . NCL 2 231453531 231483641 N . N N -0.65696586 15.15888175 0.999106738 5.8 . . NCLN 19 3185563 3209575 N . N N -0.723688873 13.31249638 0.509474338 29.7 . . NCMAP 1 24556111 24609328 N . N N 0.464520293 79.05307634 0.067267034 45.3 . . NCOA1 2 24491914 24770702 N . N Y -2.471290201 0.995543208 0.999077343 5.8 FP . NCOA2 8 70109762 70403805 N . N Y -1.29083085 4.740406321 0.999997382 2 . . NCOA4 10 46005088 46030714 N . N Y 0.044646769 52.94321931 0.008565806 55.5 . . NCOA5 20 46060985 46089952 N . N Y -1.230257993 5.313422469 0.996800144 7.7 . . NCOA7 6 125781161 125932030 N Viable N Y -0.635265313 15.78977832 0.960907672 13.9 . . NCR1 19 54906150 54916140 N . N Y 0.278045399 69.20761706 7.82E-05 72.6 . . NCR2 6 41335655 41350887 N . N N 0.474082735 79.50454361 0.000163783 70.4 . . NCR3 6 31588895 31592985 N . N N 0.363300057 74.07536031 0.001461307 63.1 DFP {Malaria, mild, susceptibility to}, 609148 (3) NCR3LG1 11 17351726 17377341 N . N N . . . . . . NDC1 1 53765460 53838860 N . N N -0.578256721 17.40464201 0.937525026 15.7 . . NDC80 18 2571511 2616635 N . N N -0.823146294 11.10725242 0.001486174 63.1 . . NDE1 16 15643267 15726353 N . N Y -0.401052411 24.3502923 0.047109548 47.3 DM Lissencephaly 4 (with microcephaly), 614019 (3); ?Microhydranencephaly, 605013 (3) NDFIP1 5 142108505 142154443 N . N Y -0.148973548 38.82039706 0.920196503 16.7 . . NDFIP2 13 79481124 79556075 N Viable N Y -0.002587674 49.23887249 0.80187873 21.6 . . NDNF 4 121035613 121073021 N . N N 0.125265848 59.15378827 0.152719665 40.5 . . NDNL2 15 29268149 29269829 N . N N 0.101649038 57.35370724 0.195522567 38.8 . . NDOR1 9 137205670 137217009 N . N N 0.515730143 81.10204318 2.61E-05 75.6 FP . NDP X 43948776 43973504 N . N Y 0.182119845 63.34433061 0.643828841 26.2 DM Norrie disease, 310600 (3); Exudative vitreoretinopathy 2, X-linked, 305390 (3) NDRG1 8 133237171 133302022 N . N Y -0.29042075 30.03993749 0.053823241 46.6 DM Charcot-Marie-Tooth disease, type 4D, 601455 (3) NDRG2 14 21016763 21070872 N . N Y 0.050084766 53.41783875 0.126597034 41.7 . . NDRG4 16 58462846 58513628 N Viable N Y -0.327935902 27.84048157 0.019809072 51.8 . . NDST2 10 73801911 73811798 N . N Y -0.400752019 24.36765642 0.052949614 46.7 . . NDST3 4 118033618 118258648 N . N Y -1.10636931 6.482606934 0.020116746 51.6 . . NDST4 4 114827763 115113876 N . N N -0.048107958 45.96284077 0.082339173 44.3 . . NDUFA1 X 119871487 119876662 N . N N 0.27215815 68.79087805 0.580718048 28 DM Mitochondrial complex I deficiency, 252010 (3) NDUFA10 2 239892450 240025402 N . N N 0.163586571 62.05938531 0.00138794 63.4 DM ?Leigh syndrome, 256000 (3) NDUFA11 19 5891276 5904006 N . N N . . 0.538189295 28.9 DM Mitochondrial complex I deficiency, 252010 (3) NDUFA12 12 94897055 95003770 N . N N 0.102455237 57.40579962 0.002015993 61.9 DM Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) NDUFA2 5 140638740 140647785 N . N N 0.268480327 68.6056607 0.339536516 34.6 DM Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) NDUFA3 19 54102728 54109257 N . N N 0.631506073 85.09579209 0.001385562 63.4 . . NDUFA4 7 10931951 10940256 N . N N 0.008591214 50.15917115 0.480021717 30.6 DM . NDUFA4L2 12 57234903 57240715 N . N N 0.168070043 62.3893037 0.014252375 53.4 . . NDUFA6 22 42085525 42090955 N . N N 0.112828307 58.21033744 0.003259494 60 DM . NDUFA7 19 8308768 8321396 N . N N 0.617455056 84.68484112 0.004021957 59.1 . . NDUFA9 12 4649095 4694317 N . N N 0.491958596 80.15280431 0.542744184 28.8 DM Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) NDUFAB1 16 23581002 23596356 N . N N 0.033970832 52.15025757 0.755255332 23 . . NDUFAF1 15 41387349 41402519 N . N N 0.922519097 91.57839903 0.00389629 59.2 DM Mitochondrial complex I deficiency, 252010 (3) NDUFAF2 5 60945129 61153037 N . N Y 0.057436789 53.89824622 3.86E-07 84.1 DM Mitochondrial complex I deficiency, 252010 (3); Leigh syndrome, 256000 (3) NDUFAF3 3 49020459 49023495 N . N N -0.221132832 34.27099612 4.86E-05 74 DM Mitochondrial complex I deficiency, 252010 (3) NDUFAF4 6 96889313 96897881 N . N N 0.034927599 52.21971407 0.382015185 33.3 DM Mitochondrial complex I deficiency, 252010 (3) NDUFAF5 20 13784950 13821582 N . N N -0.054957051 45.47085721 1.00E-05 78 . Mitochondrial complex 1 deficiency, 252010 (3) NDUFAF6 8 94895767 95116455 N . N N -0.008177066 48.7989813 2.91E-05 75.3 . Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) NDUFB1 14 92116122 92121917 N . N N 0.06302642 54.36707762 0.311678003 35.4 DM . NDUFB10 16 1959508 1961975 N . N N -0.275568538 30.94287203 0.046629914 47.4 . . NDUFB11 X 47142216 47145504 N . N N 0.252517615 67.5696012 0.750858556 23.1 . Linear skin defects with multiple congenital anomalies 3, 300952 (3) NDUFB2 7 140690777 140722790 N . N N 0.024554204 51.41517625 0.011815067 54.2 . . NDUFB3 2 201071433 201085750 N . N N 0.175573187 62.89865139 0.042565284 47.9 DM Mitochondrial complex I deficiency, 252010 (3) NDUFB4 3 120596309 120602500 N . N N 0.018964694 50.97528506 0.002266066 61.5 . . NDUFB5 3 179604690 179627647 N . N N 0.301362114 70.58517104 0.003441089 59.8 . . NDUFB6 9 32552999 32573184 N . N N 0.260977174 68.09052498 0.047218448 47.3 DP . NDUFB7 19 14566078 14572062 N . N N 0.669023361 86.17815593 0.045465922 47.5 . . NDUFB9 8 124539103 124568510 N . N N 0.422369205 76.96359322 0.042889447 47.9 DM ?Mitochondrial complex I deficiency, 252010 (3) NDUFC1 4 139266880 139302551 N . N N 0.204629358 64.65242808 0.459572169 31.1 . . NDUFC2 11 78068304 78080219 N . N N 0.017051112 50.83058401 0.625235914 26.8 DP . NDUFC2-KCTD14 11 78016971 78079865 N . N N 0.069572814 54.86484922 0.626507874 26.7 . . NDUFS2 1 161197104 161214395 N . N N -0.183464709 36.53990855 0.997735395 7.1 DM Mitochondrial complex I deficiency, 252010 (3) NDUFS4 5 53560633 53683340 N . N Y 0.196318636 64.16623256 0.004164996 58.9 DM Leigh syndrome, 256000 (3); Mitochondrial complex I deficiency, 252010 (3) NDUFS5 1 39026318 39034636 N . N N -0.0579797 45.26827574 0.098217332 43.3 DM . NDUFS6 5 1801400 1816605 N . N N 0.073399639 55.17740348 0.000262201 69 DM Mitochondrial complex I deficiency, 252010 (3) NDUFS8 11 68030617 68036644 N . N N -0.166697481 37.63384847 0.014174502 53.4 DM Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) NDUFV1 11 67606852 67612535 N . N N -0.267759536 31.40012734 9.83E-05 71.9 DM Mitochondrial complex I deficiency, 252010 (3) NDUFV3 21 42879644 42913304 N . N N -0.080184792 43.61289576 4.33E-09 89.7 DM? . NEBL 10 20779973 21174187 N . N N 0.285362033 69.64172021 5.77E-24 99.2 DM . NECAB1 8 90791550 90959408 N . N N -0.125507302 40.39474446 0.377811814 33.4 . . NECAB2 16 83968632 84002776 N . N N -0.292988049 29.83735602 . . . . NECAB3 20 33657087 33674463 N . N N 0.46275405 78.96625572 0.797631145 21.8 . . NECAP1 12 8082211 8097771 N . N N 0.181312488 63.27487411 0.040911439 48.2 . ?Epileptic encephalopathy, early infantile, 21, 615833 (3) NECAP2 1 16440672 16460078 N . N N 0.253623009 67.679574 6.87E-05 72.9 . . NEDD1 12 96907223 96953777 N . N N -0.401857672 24.31556404 0.221564199 38 . . NEDD8 14 24216852 24232454 N . N N 0.097672002 56.94854431 0.429440681 32 . . NEDD8-MDP1 14 24213955 24232352 N . N N . . . . . . NEDD9 6 11183298 11382348 N . N Y 0.077681175 55.50153383 0.534981125 29 DP . NEFH 22 29480230 29491390 N Viable N Y 0.162932629 61.98414077 0.001261041 63.8 DM ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) NEFL 8 24950955 24957110 N . N Y . . . . DM Charcot-Marie-Tooth disease, type 2E, 607684 (3); Charcot-Marie-Tooth disease, type 1F, 607734 (3) NEFM 8 24913012 24919098 N . N Y -0.200081618 35.49806101 0.035956328 48.8 DM . NEGR1 1 71395940 72282734 N Viable N Y -0.308297979 28.9923019 0.951349395 14.6 DM . NEIL1 15 75346955 75357114 N . N Y 0.223761511 65.86212884 0.000108858 71.6 FP . NEIL2 8 11769639 11787346 N . N N 1.102755647 93.96886033 2.11E-09 90.4 DM? . NEIL3 4 177309836 177362943 N . N Y 0.7745139 88.64386178 3.55E-07 84.3 . . NEK10 3 27110085 27369460 N . N N -0.602679949 16.63483244 0.000236569 69.3 . . NEK11 3 131026850 131350465 N Viable N Y 0.261428632 68.11367714 3.82E-17 97.9 . . NEK2 1 211658657 211675630 N . N N 0.014483413 50.59906234 8.72E-07 82.8 . ?Retinitis pigmentosa 67, 615565 (3) NEK3 13 52132639 52159861 N . N N 0.945986183 91.92568154 5.06E-10 91.7 FTV . NEK4 3 52708449 52770949 N . N N -0.383024958 25.26480292 1.22E-12 95.2 . . NEK5 13 52033611 52129078 N . N N 0.176981701 62.98547201 5.03E-20 98.7 . . NEK6 9 124257606 124353307 N . N Y -0.339267298 27.29640563 0.644137661 26.2 . . NELFA 4 1982714 2041903 N . N N -1.505193607 3.345488221 0.16688872 39.9 . . NELFCD 20 58981208 58995133 N . N N -0.993965971 7.95855762 0.20597781 38.6 . . NELFE 6 31952087 31959110 N . N N -0.139403663 39.45708167 0.756273167 22.9 . . NELL2 12 44508275 44921848 N . N Y -0.532131719 18.89216878 0.999853572 4.1 . . NEMP1 12 57055643 57088063 N . N N . . . . . . NEMP2 2 190504342 190534722 N . N N . . . . . . NENF 1 212432887 212446379 N . N Y 0.078989305 55.61150663 0.002991004 60.3 . . NES 1 156668763 156677397 Y Viable N Y 0.242257395 67.00816114 2.07E-05 76.1 . . NET1 10 5412551 5458463 N . N N -0.760248704 12.39219772 0.066854195 45.3 . Orthostatic intolerance, 604715 (3) NETO1 18 72742314 72868146 N . N Y -0.182507799 36.58042484 0.949402709 14.8 . . NETO2 16 47077703 47143997 N . N N -0.758487286 12.43271401 0.158399551 40.2 . . NEU1 6 31857659 31862906 N . N Y -0.411426546 23.88724894 1.93E-05 76.3 DM Sialidosis, type I, 256550 (3); Sialidosis, type II, 256550 (3) NEU2 2 233032672 233035057 N . N N 0.616792848 84.65590091 3.09E-12 94.8 FP . NEU3 11 74988134 75018893 N . N Y 1.085834749 93.80100712 1.64E-06 81.7 . . NEU4 2 241808825 241817413 N . N Y 1.629158242 97.6384789 0.000277583 68.9 . . NEURL1 10 103493979 103592552 N . N Y -0.281960735 30.55507322 . . . . NEURL1B 5 172641266 172691540 N . N N . . 0.370536573 33.6 . . NEURL2 20 45888625 45891287 N Viable N Y -0.280200056 30.62452972 0.002620214 60.9 . . NEURL3 2 96497643 96508109 N . N N . . . . . . NEURL4 17 7315628 7329393 N . N N -1.941799743 1.782716907 0.999976734 2.9 . . NEUROD2 17 39603536 39609777 N . N Y -0.321544247 28.21670429 0.729792595 23.8 . . NEUROD6 7 31337461 31340894 N . N N -0.212672702 34.75719164 0.681645767 25.1 . . NEXN 1 77888513 77943895 N . N N -0.895310436 9.677606066 3.66E-06 80.2 DM Cardiomyopathy, dilated, 1CC, 613122 (3); Cardiomyopathy, hypertrophic, 20, 613876 (3) NFAM1 22 42380410 42432395 N . N N -0.255776741 32.13520866 0.026079622 50.3 . . NFATC2 20 51386957 51562831 N . N Y -0.868689967 10.22747005 0.999251031 5.6 . . NFATC2IP 16 28950807 28967097 N . N Y -0.393703195 24.72072698 0.002327345 61.4 . . NFATC4 14 24365673 24379604 N Viable N Y -0.472915409 21.34051051 0.985383664 10.9 DP . NFE2L2 2 177227595 177392697 N . N Y -0.043626754 46.35063958 0.686008362 25 DFP . NFE2L3 7 26152240 26187125 N . N Y 0.486674995 79.95022284 1.10E-07 86 . . NFIC 19 3359563 3469217 N . N Y 0.107389526 57.79938647 0.842498931 20.2 . . NFIL3 9 91409045 91423862 N . N Y -0.396420408 24.5991781 0.948599643 14.9 . . NFKB2 10 102394110 102402529 N . N Y -0.619600205 16.18915321 0.999696458 4.6 . Immunodeficiency, common variable, 10, 615577 (3) NFKBIB 19 38899700 38908893 N . N Y -0.286592944 30.25409504 0.249570217 37.1 . . NFKBID 19 35887653 35902303 N . N Y -0.059741353 45.11778665 0.795064374 21.9 . . NFKBIE 6 44258166 44265788 N . N Y . . 0.548429215 28.7 DP . NFKBIL1 6 31546870 31558829 N . N N -0.086078072 43.11512415 0.81664717 21.1 DFP {Rheumatoid arthritis, susceptibility to}, 180300 (3) NFRKB 11 129863636 129895590 N . N N -1.060803774 7.049835041 0.752744578 23.1 . . NFS1 20 35668055 35699359 N . N N 0.028532581 51.68721422 0.832120909 20.6 . . NFU1 2 69395750 69437628 N . N N -0.099170261 42.1543092 0.000687751 66 DM Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) NFX1 9 33290511 33371157 N . N N -0.537577331 18.70695144 0.386441239 33.1 . . NFXL1 4 47847233 47914667 N . N Y -0.065984258 44.68368351 0.00788898 56 . . NFYB 12 104117077 104138289 N . N N 0.033014066 52.06922498 0.003273758 60 . . NFYC 1 40691570 40771603 N . N N -0.251145013 32.40145859 0.63195935 26.6 . . NGB 14 77265483 77271312 N . N Y 0.08457904 56.06876194 0.0025318 61.1 . . NGDN 14 23469688 23509862 N . N N 0.521014761 81.29304856 6.84E-07 83.2 . . NGEF 2 232878686 233013272 N . N Y -1.065025053 7.003530706 0.949825525 14.8 . . NGFRAP1 X 103376340 103378077 N . N N 0.227138911 66.07628639 0.254415485 37 . . NGLY1 3 25718944 25790039 N . N N -0.438416515 22.82803727 2.20E-10 92.4 DM Congenital disorder of deglycosylation, 615273 (3) NHEJ1 2 219075317 219160865 N . N Y -0.080336605 43.59553163 0.027184525 50.2 DM Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) NHLH1 1 160367067 160372848 N . N Y 0.177486232 63.00862418 0.640239275 26.3 . . NHLH2 1 115836377 115843917 N Viable N Y -0.006414986 48.96104648 0.537457457 28.9 FP . NHLRC1 6 18121419 18122606 N . N Y 0.126071509 59.22903282 0.036006534 48.8 DM Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) NHLRC2 10 113854661 113917194 N . N N 0.430170878 77.43821265 0.000339055 68.3 . . NHLRC3 13 39038306 39050109 N . N N 0.647613662 85.55883545 0.003808656 59.3 . . NHLRC4 16 566996 569495 N . N N 0.087449076 56.25976732 0.002427507 61.2 . . NHS X 17375420 17735994 N . N N 1.315095237 95.90206633 0.999461889 5.2 DM Nance-Horan syndrome, 302350 (3); Cataract 40, X-linked, 302200 (3) NHSL1 6 138422043 138692571 N . N N . . . . . . NHSL2 X 71910818 72161750 N . N N . . 0.812282091 21.2 . . NICN1 3 49422946 49429326 N . N N -0.175157533 37.05504428 0.257245529 36.9 . . NID1 1 235975830 236065162 N . N Y 0.829612913 89.78410604 0.000366476 68 DM . NID2 14 52004803 52069228 N . N N 2.778940243 99.36331539 6.95E-07 83.1 . . NIF3L1 2 200889327 200903930 N . N N 0.545437394 82.24807548 0.005177005 58 . . NIFK 2 121726945 121736923 N . N N -0.049367758 45.85286797 . . . . NIM1K 5 43192071 43280850 N . N N . . . . . . NIN 14 50719763 50831121 N . N N -0.016232699 48.19702495 8.94E-06 78.3 DM Seckel syndrome 7, 614851 (3) NINJ1 9 93121489 93134288 N . N Y 0.24597088 67.24547086 0.061293909 45.9 FP . NINJ2 12 564296 663779 N . N Y 0.538742637 81.99918967 0.020138862 51.6 . . NINL 20 25452705 25585517 N . N N 1.300052518 95.79209353 3.97E-33 99.8 . . NIPA1 15 22773063 22829791 N . N N -0.680738037 14.48168085 0.214097496 38.3 DM Spastic paraplegia 6, autosomal dominant, 600363 (3) NIPA2 15 22838641 22868384 N . N N -0.33543894 27.48162297 0.487193754 30.3 DM . NIPAL1 4 47914142 48040173 N . N N 0.33806995 72.74989871 3.21E-09 90.1 . . NIPAL2 8 98189833 98294393 N . N N 0.236703709 66.62615037 5.79E-06 79.3 . . NIPAL3 1 24415794 24472976 N . N Y -0.293139081 29.82577994 0.000454712 67.3 . . NIPAL4 5 157460019 157474717 N . N N 0.460989431 78.87943509 0.000898829 65.1 DM Ichthyosis, congenital, autosomal recessive 6, 612281 (3) NIPSNAP1 22 29554808 29581337 N . N Y -0.321544247 28.21670429 0.979278957 11.9 DM . NIPSNAP3A 9 104747688 104760122 N Viable N Y 0.463710367 79.01834809 1.64E-05 76.8 DM . NIPSNAP3B 9 104764157 104777457 N . N N 0.857710008 90.32239393 0.023882968 50.7 . . NISCH 3 52455118 52493071 N . N N -2.074079383 1.504890895 0.817101389 21.1 DM? . NIT1 1 161118086 161125445 N . N Y -0.320432866 28.29194883 0.000861525 65.3 . . NIT2 3 100334701 100361635 N . N N -0.489328961 20.62279331 1.60E-10 92.6 . . NKAIN1 1 31179745 31239554 N . N N 0.017051112 50.83058401 0.615737173 27.1 . . NKAIN2 6 123804141 124825657 N . N N -0.183617621 36.51675638 0.007832385 56.1 DM . NKAIN3 8 62248591 62999652 N . N N 0.343512144 73.05666493 0.010179443 54.9 . . NKAIN4 20 63240784 63272694 N . N N 0.412953559 76.48897378 0.023717185 50.8 . . NKAP X 119920672 119943772 N . N N -0.115133273 41.12403774 0.995513908 8.2 . . NKAPL 6 28259320 28260958 N . N N 1.088556897 93.82994733 0.000165621 70.4 . . NKD1 16 50548330 50640739 N . N Y 0.122395494 58.93963072 0.997929799 7 . . NKD2 5 1008829 1038943 N . N Y 0.482542375 79.82867396 2.36E-05 75.8 . . NKG7 19 51371606 51372715 N Viable N Y 0.29385898 70.12212768 0.004006662 59.1 . . NKIRAS1 3 23891660 23946591 N . N N -0.133010364 39.8622446 0.034887772 49 . . NKIRAS2 17 42011382 42025644 N . N Y -0.343096194 27.10540024 0.063309458 45.7 . . NKPD1 19 45149750 45160150 N . N N . . 1.89E-09 90.6 . . NKRF X 119588337 119605895 N . N Y 0.206691474 64.80870522 0.955812168 14.3 . . NKTR 3 42600614 42648741 N . N N -0.006462988 48.93210627 0.99187751 9.5 . . NKX1-2 10 124445239 124450184 N . N N . . . . . . NKX2-4 20 21395367 21398028 N . N N . . 0.278447692 36.2 . . NKX2-6 8 23702451 23706598 N . N Y . . 0.003522543 59.7 DM Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3) NKX2-8 14 36580579 36582607 N . N Y . . 0.243402675 37.3 . . NKX3-1 8 23678693 23682927 N . N Y 0.112828307 58.21033744 0.000884341 65.2 DFP . NKX6-2 10 132783179 132786052 N . N Y -0.514710293 19.63882619 0.013461307 53.7 . . NKX6-3 8 41645178 41650669 N . N Y 0.342555909 72.99878451 0.190054226 39 . . NLGN1 3 173396284 174286644 N . N Y -1.174860514 5.845922324 0.755797512 23 DM? . NLGN2 17 7404874 7419860 N . N Y -1.06804498 6.95722637 0.9926247 9.3 DM . NLGN3 X 71144831 71171201 N . N Y -0.478954353 21.04532037 0.896227168 17.9 DM {Autism susceptibility, X-linked 1}, 300425 (3); {Asperger syndrome susceptibility, X-linked 1}, 300494 (3) NLGN4X X 5840637 6228863 N . N N -0.942245059 8.826763906 0.932298559 16 DM . NLGN4Y Y 14522638 14845650 N . N N . . 0.645547567 26.2 DM . NLN 5 65722196 65871725 N . N Y -0.090406755 42.76784164 3.60E-07 84.3 . . NLRC3 16 3539033 3577400 N . N Y . . 1.03E-12 95.2 . . NLRC4 2 32224453 32265854 N . N Y -1.33885276 4.40469989 4.35E-08 87.2 . Autoinflammation with infantile enterocolitis, 616050 (3); ?Familial cold autoinflammatory syndrome 4, 616115 (3) NLRC5 16 56989485 57083531 N . N Y -1.069028096 6.916710077 6.72E-05 73 . . NLRP1 17 5499427 5619424 N . N Y 1.078197718 93.71997453 2.08E-12 95 DM {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3) NLRP10 11 7959424 7965426 N . N Y 0.321452825 71.85275221 5.10E-12 94.6 . . NLRP11 19 55785397 55836800 N . N N -0.286144353 30.27145917 3.92E-06 80 . . NLRP12 19 53793603 53824394 N . N Y 0.100650412 57.25531053 3.14E-27 99.5 DM Familial cold autoinflammatory syndrome 2, 611762 (3) NLRP13 19 55891699 55932336 N . N N 0.456979998 78.63054929 5.16E-14 96.3 . . NLRP14 11 7020446 7071308 N . N N 1.562123853 97.2796203 9.15E-23 99.1 DM . NLRP2 19 54953130 55001142 N . N N 1.80555844 98.19413093 1.88E-20 98.8 DM . NLRP4 19 55836578 55881854 N . N N 0.229966261 66.19783527 5.16E-05 73.8 . . NLRP5 19 55999726 56061813 N . N Y 0.281849797 69.41598657 1.24E-07 85.9 . . NLRP6 11 278365 285359 N . N Y 0.208907564 64.99392256 . . . . NLRP7 19 54923509 54966312 N . N N 2.505324718 99.18967413 1.10E-12 95.2 DM . NLRP8 19 55947832 55988629 N . N N 0.980471547 92.50448573 1.26E-18 98.4 . . NLRP9 19 55708432 55738402 N Viable N Y -0.26731288 31.40591538 5.68E-17 97.8 . . NLRX1 11 119166568 119184016 N . N Y 1.426084434 96.51559877 9.84E-22 99 DM? . NMB 15 84655129 84658563 N . N N 0.442966544 78.02280489 0.156904105 40.3 DP . NMBR 6 142058330 142088799 N . N Y 0.81474924 89.43103548 0.000742389 65.8 . . NMD3 3 161104696 161253532 N . N N -0.845656541 10.65578515 4.42E-05 74.2 . . NME1-NME2 17 51165435 51171747 N . N N 0.371759592 74.49209932 0.010430774 54.8 . . NME2 17 51153590 51171744 N Viable N Y -0.049519725 45.82392777 0.010430774 54.8 . . NME3 16 1770286 1771730 N . N N 0.587441516 83.76454246 2.37E-06 81 . . NME4 16 396725 410367 N . N N 0.492766925 80.17595647 0.134065502 41.4 . . NME5 5 138115172 138139443 N . N Y 0.133424212 59.69786421 0.570640716 28.2 . . NME7 1 169132531 169367967 N . N Y 0.376541981 74.76413729 0.003528477 59.7 DM? . NME8 7 37848597 37900401 N . N N 0.927454043 91.66521966 2.03E-21 99 DM Ciliary dyskinesia, primary, 6, 610852 (3) NME9 3 138261437 138329886 N . N N 0.038754674 52.485964 2.63E-05 75.5 . . NMI 2 151270465 151290057 N . N N 0.580084093 83.4809284 6.23E-09 89.4 . . NMNAT3 3 139560180 139678017 N . N N -0.225764638 33.98159403 5.34E-08 86.9 . . NMRAL1 16 4461680 4495763 N Viable N Y 0.865360015 90.44394281 0.000731171 65.8 . . NMRK1 9 75060573 75088217 N . N N 0.422369205 76.96359322 0.001066368 64.5 . . NMRK2 19 3933103 3942416 N Viable N Y 0.472169912 79.41193494 1.17E-07 86 . . NMS 2 100470482 100483280 N . N N 0.414865996 76.60473462 2.78E-10 92.2 . . NMT2 10 15102584 15168693 N . N N -0.122483898 40.59153788 0.317678321 35.2 DM? . NMU 4 55595229 55636698 N . N Y 0.412953559 76.48897378 0.008931842 55.4 DM? . NMUR1 2 231523160 231530495 N Viable N Y 0.634669724 85.19418881 1.07E-05 77.9 . . NMUR2 5 152391532 152433368 N . N Y 1.039855766 93.26271922 0.421657261 32.2 . . NNAT 20 37521215 37523693 N . N Y 0.144604076 60.5660705 0.11256796 42.5 . . NNMT 11 114257787 114313285 N . N N 0.23207049 66.37147653 0.004279164 58.8 . Homocysteine plasma level (2) NNT 5 43602692 43707405 N . N Y -1.048919759 7.235052382 0.999550477 5.1 DM Glucocorticoid deficiency 4, 614736 (3) NOB1 16 69741867 69754940 N . N N 0.187203344 63.63952075 8.61E-08 86.3 . . NOC2L 1 944204 959309 N . N N 0.166111008 62.21566244 1.33E-19 98.6 . . NOC4L 12 132144448 132152473 N . N N 1.961453305 98.52404931 . . . . NOCT 4 139015789 139045939 N . N Y . . . . . . NOD1 7 30424527 30478784 N . N Y 0.703631509 86.96532963 5.05E-13 95.5 DFP . NOD2 16 50693603 50733077 N . N Y 1.621386626 97.58059848 5.52E-19 98.4 DM {Inflammatory bowel disease 1}, 266600 (3); Blau syndrome, 186580 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3); Sarcoidosis, early-onset, 609464 (3) NOL10 2 10570766 10689987 N . N N 0.507921503 80.78370087 0.803303948 21.5 . . NOL11 17 67717833 67744531 N . N N 0.305489774 70.82248075 0.027829353 50.1 . . NOL12 22 37681673 37693478 N . N N 0.302318539 70.64305146 0.090553698 43.7 . . NOL3 16 67170154 67175735 N . N Y 0.870805519 90.61179603 0.000536476 66.8 DM Myoclonus, familial cortical, 614937 (3) NOL4 18 33851100 34224952 N . N N -1.103649308 6.505759102 0.998788438 6.1 . . NOL4L 20 32443059 32585074 N . N N . . . . . . NOL6 9 33461441 33473930 N . N N 0.858495013 90.3455461 0.999078032 5.8 . . NOL7 6 13615327 13632739 N . N N 0.291946181 70.03530706 0.010960121 54.5 . . NOL9 1 6521347 6554535 N . N N -0.177723518 36.87561498 0.00447024 58.6 . . NOLC1 10 102152176 102163871 N . N N -0.405534288 24.1303467 0.246823454 37.2 . . NOM1 7 156949723 156973182 N . N N 0.8262361 89.68570932 0.000163383 70.4 . . NOMO1 16 14833681 14896160 N . N N 1.102111553 93.95149621 . . . . NOMO2 16 18417325 18562211 N . N N . . . . . . NOMO3 16 16232495 16294814 N . N N . . . . . . NONO X 71283192 71301168 N . N N 0.018007904 50.90004052 0.9939465 8.9 . . NOP10 15 34341713 34343177 N . N N 0.076119241 55.36840887 0.802013759 21.6 DM Dyskeratosis congenita, autosomal recessive 1, 224230 (3) NOP14 4 2937933 2963385 N . N N -0.233621899 33.45488221 0.017449165 52.3 . . NOP16 5 176383938 176388975 N . N N 0.789222232 88.97378017 0.145044757 40.8 . . NOP2 12 6556863 6568691 N . N N 0.355293324 73.71650171 0.048927642 47.1 . . NOP56 20 2652145 2658393 N . N N -0.114829257 41.15876599 0.97325682 12.6 DM Spinocerebellar ataxia 36, 614153 (3) NOP58 2 202265716 202303666 N . N N -0.986462395 8.103258668 0.509478886 29.7 . . NOP9 14 24299862 24309124 N . N N 0.511901029 80.95734213 6.32E-06 79.1 . . NOS1 12 117208142 117452170 N . N Y -0.998861533 7.877525033 0.998694761 6.3 DFP . NOS1AP 1 162069774 162370475 N Viable N Y -0.455487979 22.06401574 0.119913961 42.1 DM? . NOS2 17 27756766 27800499 N . N Y -0.610700304 16.43803901 7.26E-09 89.3 DM? . NOSIP 19 49555711 49590262 N . N N -0.378697035 25.5252648 0.002301566 61.4 . . NOSTRIN 2 168786539 168865514 N . N Y 0.124309052 59.07275569 3.58E-10 92 . . NOTCH2NL 1 146146203 146229026 N . N N 2.948686665 99.5022284 0.000100623 71.8 . . NOTCH3 19 15159038 15200981 N Viable N Y 0.111180846 58.08878856 0.207712385 38.5 DM Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3); ?Myofibromatosis, infantile 2, 615293 (3); Lateral meningocele syndrome, 130720 (3) NOTCH4 6 32194843 32224067 N Viable N Y 0.381479149 74.98408288 1.20E-10 92.8 DP . NOTUM 17 81952507 81961840 N . N N 0.173002985 62.75973838 0.0008604 65.3 . . NOX1 X 100843324 100874345 N . N Y 0.824973219 89.63940499 0.000386452 67.9 . . NOX3 6 155395370 155455903 N . N N 0.170435624 62.53979279 3.58E-09 89.9 . . NOX4 11 89324356 89498187 N . N Y -0.534044514 18.82850032 8.16E-07 82.9 . . NOX5 15 68930525 69062743 N . N N 1.029788219 93.15274643 1.72E-13 95.9 . . NOXA1 9 137423350 137434406 N . N Y . . 4.73E-06 79.6 . . NOXO1 16 1978917 1984192 N . N N 1.308085156 95.84418591 3.17E-11 93.7 . . NOXRED1 14 77394021 77423517 N . N N -0.565317646 17.76928865 0.118495408 42.2 . . NPAP1 15 24675868 24683393 N . N N 0.832318134 89.84198646 0.273009366 36.4 . . NPAS1 19 47019820 47045775 N . N N 0.113935742 58.3145222 0.916472527 16.9 . . NPAS2 2 100820152 100996829 N . N Y 0.148883562 60.91914105 0.990888562 9.8 DP . NPAS4 11 66421004 66426707 N . N Y -1.232023433 5.290270302 0.424264241 32.2 DM . NPAT 11 108157215 108222642 N . N N 0.057390895 53.86930601 0.142676569 40.9 DM . NPB 17 81900745 81902905 N . N Y . . 0.428299526 32 . . NPBWR1 8 52938431 52941117 N . N Y 0.059501305 54.07188748 0.000132407 71.1 FP . NPBWR2 20 64105820 64107171 N . N N 0.547350629 82.34068415 0.002224334 61.5 . . NPC1L1 7 44512535 44541315 N . N Y -0.024038065 47.64137292 1.37E-10 92.7 DM [Ezetimibe, nonresponse to] (3) NPC2 14 74476192 74494177 N Viable N Y 0.116504775 58.48816345 0.008700693 55.5 DM Niemann-pick disease, type C2, 607625 (3) NPDC1 9 137039470 137046203 N . N Y 0.547202136 82.32910806 0.703401664 24.5 . . NPEPL1 20 58689131 58719238 N . N N 0.31092756 71.10609481 1.80E-07 85.3 . . NPFF 12 53506690 53507638 N . N N 0.457017001 78.64212537 0.000253702 69.1 . . NPFFR1 10 70247329 70283676 N . N Y . . 4.69E-09 89.6 . . NPFFR2 4 72031804 72148067 N . N N 0.484606379 79.9039185 9.71E-06 78.2 DM? . NPHP1 2 110122311 110205066 N Viable N Y -0.255472839 32.15257278 1.37E-08 88.5 DM Nephronophthisis 1, juvenile, 256100 (3); Senior-Loken syndrome-1, 266900 (3); Joubert syndrome 4, 609583 (3) NPHP3-ACAD11 3 132558142 132722459 N . N N . . . . . . NPHP4 1 5862811 5992473 N . N N 3.884404854 99.73375007 1.29E-17 98 DM Nephronophthisis 4, 606966 (3); Senior-Loken syndrome 4, 606996 (3) NPIPA1 16 14750813 14952060 N . N N . . 0.495053839 30.1 . . NPIPA2 16 14748066 14765413 N . N N . . . . . . NPIPA3 16 14708944 14952073 N . N N . . . . . . NPIPA5 16 15363624 15381047 N . N N . . 0.544994923 28.8 . . NPIPA7 16 16379055 16393954 N . N N . . . . . . NPIPA8 16 18317942 18336736 N . N N . . . . . . NPIPB11 16 29381354 29404029 N . N N . . . . . . NPIPB15 16 74377878 74392080 N . N N . . 0.000277932 68.9 . . NPIPB3 16 21402237 21448567 N . N N . . 0.502865157 29.9 . . NPIPB4 16 21834569 21880827 N . N N . . . . . . NPIPB5 16 22479121 22536521 N . N N . . . . . . NPIPB6 16 28342555 28363508 N . N N . . 0.636136512 26.4 . . NPIPB7 16 28456372 28471175 N . N N . . 0.151766813 40.5 . . NPIPB8 16 28637654 28658682 N . N N . . 0.014229505 53.4 . . NPIPB9 16 28751787 28772807 N . N N . . . . . . NPL 1 182789293 182830384 N . N N -0.087839602 42.97621115 4.51E-07 83.9 DM . NPM2 8 22024125 22036897 N . N Y 0.370803213 74.41685478 0.000671457 66.1 . . NPM3 10 101781325 101783413 N Viable N Y 0.164393154 62.10568965 0.859176476 19.5 . . NPNT 4 105894775 106004027 N . N Y 0.902071833 91.10956763 7.28E-06 78.8 . . NPPA 1 11845709 11848345 N . N Y 0.612819541 84.5575042 0.016931635 52.5 DM Atrial fibrillation, familial, 6, 612201 (3); Atrial standstill 2, 615745 (3) NPPB 1 11857464 11858931 N . N Y 0.565887443 82.91948834 0.00038006 67.9 DM? . NPR1 1 153678637 153693992 N . N Y -0.241423479 32.93974648 0.000172509 70.3 DFP . NPRL2 3 50347330 50351091 N . N N -0.543765506 18.41754934 0.345174794 34.4 . . NPS 10 127549369 127552639 N . N N 0.442010439 77.98228859 0.00010008 71.9 . . NPSR1 7 34658239 34878332 N . N Y 1.511804486 97.02494646 8.18E-07 82.9 DFP {Asthma, susceptibility to, 2}, 608584 (3) NPTN 15 73560014 73634134 N Viable N Y -0.416212455 23.64993923 0.988917853 10.2 DFP . NPTX1 17 80467148 80477843 N . N Y -0.040907923 46.57058517 0.426444497 32.1 . . NPTX2 7 98617297 98629868 N . N Y -0.427389804 23.21583608 0.097568454 43.3 . . NPTXR 22 38818452 38843982 N . N Y -0.33080711 27.69578052 . . . . NPVF 7 25224570 25228486 N . N N 0.680350018 86.42704173 0.002640283 60.9 . . NPW 16 2009926 2020755 N . N N . . . . . . NPY 7 24284163 24291865 N . N Y 0.153063769 61.21433119 0.588186086 27.8 DFP . NPY1R 4 163323961 163344832 N . N Y -0.272697012 31.12808937 0.651605219 26 DFP . NPY2R 4 155208629 155217078 N . N Y -0.17787558 36.8640389 0.188394785 39 DM? . NPY4R 10 46461099 46465881 N . N Y 1.323395163 95.94258262 6.12E-09 89.4 . . NPY5R 4 163343939 163351934 N . N Y -0.799833369 11.59923598 0.491800968 30.2 . . NQO1 16 69706996 69726951 N . N Y 0.51527665 81.07889101 4.52E-11 93.4 DFP {Benzene toxicity, susceptibility to} (3); {Leukemia, post-chemotherapy, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3) NQO2 6 2987987 3028869 N . N Y 0.782674771 88.85223129 1.27E-05 77.4 DFP {?Breast cancer susceptibility}, 114480 (1) NR0B1 X 30304206 30309598 N . N Y 0.061263744 54.22237657 0.791995495 21.9 DM Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 (3); 46XY sex reversal 2, dosage-sensitive, 300018 (3) NR0B2 1 26911489 26913966 N . N Y 0.670123656 86.20709614 5.83E-08 86.8 DM Obesity, mild, early-onset, 601665 (3) NR1H2 19 50329653 50382982 N . N Y -0.77908304 12.03912716 0.821872624 20.9 DFP . NR1H3 11 47248300 47269032 N Viable N Y -0.500506623 20.165538 0.856185983 19.7 DM . NR1H4 12 100473708 100564413 N . N Y 0.044495337 52.92585518 0.161696751 40.1 DM . NR1I2 3 119780484 119818485 N . N Y -1.032288472 7.437633848 0.000129417 71.1 DM . NR1I3 1 161229666 161238302 N . N Y 0.642979476 85.46622678 0.00035522 68.1 DM . NR2C1 12 95020229 95073703 N . N Y -0.392592402 24.83069977 0.982333197 11.4 . . NR2C2AP 19 19201416 19203424 N . N N -0.170525669 37.3618105 0.527167735 29.2 . . NR2E1 6 108166058 108188809 N . N Y -0.531631495 18.90953291 0.990508625 9.8 DM? . NR2E3 15 71792638 71818259 N . N Y . . . . DM Enhanced S-cone syndrome, 268100 (3); Retinitis pigmentosa 37, 611131 (3) NR2F6 19 17231883 17245940 N . N Y . . 0.152636356 40.5 . . NR4A1 12 52022832 52059507 N . N Y -0.439373167 22.77015686 0.959497621 14 . . NRAP 10 113588716 113664127 N . N N 3.183281612 99.59483707 2.59E-31 99.7 . . NRARP 9 137300482 137302251 N . N Y 0.121138064 58.78914163 0.150570049 40.6 . . NRBF2 10 63133247 63155031 N . N N -0.173243497 37.15922903 0.082106241 44.3 . . NRBP2 8 143833594 143840974 N . N N . . 0.002412945 61.2 . . NRCAM 7 108147623 108456717 N Viable N Y -1.347178917 4.329455345 0.456484598 31.2 . . NREP 5 111662621 111997464 N . N Y 0.25810805 67.9284598 0.563643143 28.4 . . NRG3 10 81875314 82987179 N . N N -0.634456013 15.81293049 0.21033799 38.4 DM? . NRG4 15 75935969 76059795 N . N N -0.058936621 45.1930312 0.024387547 50.6 . . NRGN 11 124739846 124747210 N . N Y 0.142690981 60.37506512 0.536942023 28.9 DM . NRIP1 21 14961235 15065000 N . N Y 0.203626963 64.56560745 0.991172158 9.7 DP . NRIP2 12 2825348 2835544 N . N N 0.475995728 79.57978816 9.12E-08 86.2 . . NRIP3 11 8980576 9004049 N . N N 0.42987242 77.39769636 2.35E-05 75.8 . . NRL 14 24080107 24115014 N . N Y -0.057022786 45.34352029 0.079735109 44.5 DM Retinitis pigmentosa 27, 613750 (3); Retinal degeneration, autosomal recessive, clumped pigment type (3) NRM 6 30688047 30691420 N . N N 0.080902701 55.81408809 0.142577187 40.9 . . NRN1 6 5997999 6007605 N . N Y -0.042016662 46.43167217 0.823897693 20.8 DM? . NRN1L 16 67884805 67888855 N Viable N Y 1.183240604 94.88337096 0.000386711 67.9 . . NRROS 3 196639686 196662004 N . N N -0.191621929 36.07107715 0.457686198 31.2 . . NRSN1 6 24126122 24154900 N . N N 0.012418429 50.43120912 0.004307251 58.8 . . NRSN2 20 346782 359660 N . N N 0.340790619 72.91775192 0.001973312 61.9 . . NRTN 19 5823802 5828324 N . N Y . . 0.100149119 43.1 DM . NRXN1 2 49918505 51032561 N Viable N Y -1.826448334 2.118423337 0.999948738 3.3 DM Pitt-Hopkins-like syndrome 2, 614325 (3); {Schizophrenia, susceptibility to, 17}, 614332 (3) NSA2 5 74766991 74780113 N . N N -0.100127206 42.09064074 0.686235241 25 . . NSFL1C 20 1442162 1473842 N . N N 0.0931893 56.64756613 0.159362129 40.2 . . NSL1 1 212726153 212791782 N . N N 0.432741275 77.53082132 0.043155917 47.8 FTV . NSMAF 8 58583504 58659844 N . N Y -1.0161784 7.674943567 3.18E-08 87.5 . . NSMCE1 16 27224991 27268794 N . N N -0.082250388 43.42189037 0.038388415 48.5 . . NSMCE2 8 125091679 125367120 N . N N -0.069158154 44.44637379 0.072450721 44.9 . . NSMCE4A 10 121957088 121975217 N . N N 0.39426906 75.53973491 0.085946995 44 . . NSMF 9 137447570 137459334 N . N N -0.495874865 20.37969555 0.046546174 47.4 . Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3) NSUN2 5 6599239 6633291 N . N Y -1.267632058 4.954563871 0.961845836 13.8 DM Mental retardation, autosomal recessive 5, 611091 (3) NSUN3 3 94062916 94128545 N . N N -0.118808507 40.85199977 2.57E-07 84.8 . . NSUN4 1 46340177 46365152 N . N N 0.339026533 72.81356717 1.39E-06 82.1 . . NSUN5 7 73302517 73308867 N . N N 0.213539768 65.27753661 1.45E-06 82 . . NSUN6 10 18545561 18659285 N . N N -0.259299737 31.92683915 1.73E-14 96.6 . . NSUN7 4 40749897 40809985 N Viable N Y 0.531387625 81.71557562 0.048551891 47.2 DM? . NT5C 17 75130225 75131795 N . N N 0.352927885 73.57180066 0.01264883 54 . . NT5C1A 1 39659121 39672038 N . N N -0.417972557 23.58048272 8.15E-05 72.5 . . NT5C1B 2 18562872 18589572 N . N N 1.02500032 93.10065405 3.45E-05 74.9 DM? . NT5C1B-RDH14 2 18555545 18589564 N . N N 0.956510792 92.12826301 5.07E-05 73.8 . . NT5C2 10 103088017 103193306 N . N N -0.442395976 22.60809168 0.052197863 46.8 . Spastic paraplegia 45, 613162 (3) NT5C3A 7 33014114 33062797 N . N N -0.475279987 21.20738554 0.012372194 54.1 . Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3) NT5C3B 17 41825181 41836263 N . N N -0.11785159 40.91566823 7.88E-05 72.6 . . NT5DC1 6 116100849 116249497 N . N N 0.127984973 59.3100654 0.326411116 35 . . NT5DC2 3 52524385 52535054 N . N N -0.972259363 8.35214447 0.004608866 58.5 . . NT5DC3 12 103770453 103841197 N . N N -0.448941955 22.34184175 0.000112402 71.5 . . NT5DC4 2 112721486 112742879 N . N N . . . . . . NT5E 6 85449584 85495791 N . N Y 0.489238883 80.06598368 2.34E-06 81 DM Calcification of joints and arteries, 211800 (3) NT5M 17 17303335 17347663 N . N N 0.248840271 67.3901719 3.30E-05 75 . . NTAN1 16 15037853 15056079 N . N Y 0.016245619 50.75533947 0.015873662 52.9 DM? . NTF4 19 49055793 49065076 N Viable N Y -0.101084162 42.05591248 0.1075829 42.7 DM . NTHL1 16 2039815 2047866 N . N Y 0.536021154 81.91815709 1.77E-09 90.7 DM Familial adenomatous polyposis 3, 616415 (3) NTM 11 131370478 132336822 N . N N -0.715382035 13.51507785 0.525365694 29.3 DM? . NTMT1 9 129608884 129636131 N . N N -0.53817717 18.67222319 0.40245054 32.7 . . NTN3 16 2471499 2474145 N . N N 0.413251052 76.53527812 5.82E-05 73.5 . . NTN4 12 95657807 95791152 N Viable N Y -0.222741485 34.17259941 0.994426785 8.6 . . NTN5 19 48661407 48673081 N . N N 0.913103167 91.31793714 3.27E-06 80.4 . . NTNG1 1 107140007 107483458 N . N N -0.273500756 31.08178503 0.441031128 31.7 DM . NTNG2 9 132161676 132244534 N . N Y -0.576495149 17.46252243 0.82958323 20.6 . . NTPCR 1 232950605 232983882 N . N N 0.157846676 61.58476587 1.70E-05 76.7 . . NTS 12 85874295 85882992 N . N Y 0.079946001 55.69832726 7.97E-06 78.6 . . NTSR1 20 62708837 62762771 N . N Y 0.294159089 70.15106789 9.73E-08 86.1 . . NTSR2 2 11658178 11670164 N . N Y 0.585674735 83.69508595 2.53E-05 75.6 . . NUB1 7 151341699 151378449 N . N N -0.092471964 42.67523297 1.15E-05 77.7 DM . NUBP2 16 1782901 1789191 N . N N 0.825929637 89.67413324 0.008816822 55.4 . . NUCB1 19 48900050 48923372 N . N N 0.479822239 79.75921746 4.17E-05 74.4 . . NUCB2 11 17208153 17349974 N . N N -0.140360582 39.38762517 8.59E-08 86.3 DP . NUCKS1 1 205712819 205750276 N . N N -0.27652577 30.82132315 0.979237658 11.9 . . NUDC 1 26900238 26946862 N . N N -0.03627546 46.84841118 0.822775133 20.9 DM . NUDCD1 8 109240919 109334385 N . N N 0.026770398 51.55987729 3.84E-06 80.1 . . NUDCD2 5 163446526 163460140 N . N N -0.094538075 42.4726515 0.000812082 65.5 . . NUDCD3 7 44379121 44490880 N . N N 0.330566867 72.36788794 0.706731712 24.4 . . NUDT1 7 2242222 2251146 N . N Y 0.228244069 66.13416681 1.29E-09 91 DM? . NUDT10 X 51332231 51337525 N . N N -0.035470476 46.91207964 . . . . NUDT11 X 51490011 51496596 N . N N -0.149930626 38.75094056 0.699091255 24.6 . . NUDT12 5 103548855 103562793 N . N N -0.14307911 39.17346762 3.28E-11 93.6 . . NUDT13 10 73110375 73131828 N . N N 0.641066664 85.39098223 5.73E-07 83.5 . . NUDT14 14 105172938 105181323 N Viable N Y 0.137250784 59.99305435 0.000705233 65.9 . . NUDT15 13 48037567 48047222 N . N N 0.275983486 69.05712797 0.09722958 43.4 . . NUDT16 3 131381671 131388830 N . N N 0.440244459 77.90125601 0.001460676 63.1 . . NUDT16L1 16 4693694 4695859 N . N N -0.204212609 35.19708283 0.020449384 51.5 . . NUDT17 1 145845629 145848953 N . N N 0.523736129 81.40302136 0.005379908 57.8 . . NUDT18 8 22106872 22109419 N . N N . . 0.000135276 71 . . NUDT19 19 32691961 32713796 N Viable N Y 0.764945783 88.45864444 1.09E-05 77.8 DP . NUDT2 9 34329506 34343713 N . N N 0.412953559 76.48897378 0.002367748 61.3 . . NUDT21 16 56429133 56452199 N . N N 0.039560397 52.53226833 0.947296446 15 . . NUDT22 11 64225941 64230686 N . N N 0.760164388 88.30236731 0.000315497 68.5 . . NUDT3 6 34279679 34392674 N . N N -0.057022786 45.34352029 0.876816622 18.8 . . NUDT4 12 93377883 93408146 N . N N 0.284443026 69.58383979 0.164174989 40 . . NUDT5 10 12165325 12196144 N . N N -0.145145404 39.04034265 0.009460687 55.2 . . NUDT6 4 122888697 122922968 N . N N 0.239573531 66.85188401 0.000761662 65.7 DP . NUDT7 16 77722492 77742260 N . N N 0.609140858 84.45331944 0.000107932 71.6 . . NUDT8 11 67627938 67629930 N . N N 0.029338097 51.71036638 0.003288168 59.9 . . NUDT9 4 87422582 87459454 N . N N -0.209801572 34.94819702 1.27E-05 77.4 . . NUF2 1 163266576 163355764 N . N N -0.192881585 36.00162065 6.56E-05 73.1 . . NUFIP1 13 44939249 44989483 N . N N 0.429214031 77.35718007 3.92E-06 80 . . NUFIP2 17 29255836 29294118 N . N N -0.749875342 12.63529548 0.99208608 9.4 . . NUGGC 8 28021964 28083871 N . N N 0.796066823 89.12426926 1.96E-07 85.2 . . NUMBL 19 40665905 40690972 N . N Y . . 0.751917062 23.1 DP . NUP107 12 68686734 68745809 N . N N -1.023682178 7.547606645 1.20E-06 82.3 . . NUP153 6 17615035 17706834 N . N N -1.307507157 4.64779765 0.999994457 2.3 . . NUP160 11 47778087 47848555 N . N N -1.208156375 5.475487643 0.023979153 50.7 . . NUP188 9 128947699 129007096 N . N N -1.27547487 4.896683452 0.987079307 10.6 . . NUP205 7 135557919 135648757 N . N N -2.472952774 0.989755166 0.999998808 1.8 . . NUP210 3 13316235 13420309 N . N N 0.179193053 63.11280894 1.45E-10 92.7 . . NUP210L 1 153992685 154155116 N . N N -1.450106222 3.669618568 0.14464062 40.8 . . NUP35 2 183117513 183161680 N . N N -0.353316263 26.61920472 0.123687365 41.9 . . NUP37 12 102073103 102120124 N . N N -0.006263422 49.00156277 0.000998328 64.7 . . NUP43 6 149724315 149749665 N . N N -0.192881585 36.00162065 3.54E-06 80.2 . . NUP54 4 76114659 76148515 N . N N -0.223850595 34.10314291 0.96017275 13.9 . . NUP62CL X 107123427 107206433 N . N N 0.199995603 64.38039011 0.004394552 58.7 . . NUP88 17 5360963 5420160 N . N Y -0.675650498 14.60901777 4.70E-06 79.7 . . NUP93 16 56730105 56850286 N . N N -0.848230086 10.59790473 0.004868044 58.2 . . NUPL1 13 25301524 25349800 N . N N 0.247227331 67.29177519 0.084827555 44.1 . . NUPL2 7 23181827 23201011 N . N N 0.226480797 66.06471031 3.67E-05 74.7 . . NUPR1 16 28532708 28539174 N . N Y 0.411997394 76.41951728 0.007541089 56.2 . . NUPR1L 7 56114681 56116400 N . N N . . . . . . NUTM1 15 34343315 34357737 N . N N 0.196123774 64.13150431 0.005981126 57.2 . . NUTM2A 10 87225448 87236908 N . N N . . 0.672316973 25.4 . . NUTM2B 10 79703227 79714681 N Viable N Y . . 0.841786847 20.2 . . NUTM2D 10 87357668 87370695 N . N N . . 0.227557524 37.8 . . NUTM2E 10 79841358 79850878 N . N N . . . . . . NUTM2F 9 94318196 94328644 N . N N 0.322257551 71.89905655 . . . . NUTM2G 9 96928310 96940253 N . N N 2.290916569 98.98130462 . . . . NVL 1 224227334 224330387 N . N N 0.285851735 69.69960063 7.76E-12 94.4 . . NWD1 19 16719976 16817963 N . N N 2.7920174 99.36910343 1.37E-19 98.6 . . NWD2 4 37244220 37449465 N . N N . . . . . . NXF1 11 62792123 62806302 N . N N -1.27064872 4.937199745 0.998990475 5.9 . . NXF2 X 102247161 102326719 N . N Y . . . . . . NXF2B X 102360395 102463274 N . N N . . 0.760751148 22.8 . . NXF3 X 103075810 103093125 N . N N 0.497548723 80.36117381 0.008537813 55.6 DM . NXF5 X 101832112 101857577 N . N N 1.162639977 94.65763732 0.004207845 58.9 DM . NXNL1 19 17455425 17460954 N . N Y 0.604360167 84.27967818 0.061690604 45.8 DM . NXNL2 9 88535101 88584274 N . N N 0.191535973 63.89419459 0.477417234 30.6 . . NXPE1 11 114521715 114559895 N . N N 0.274369075 68.95294322 3.49E-10 92.1 . . NXPE2 11 114678386 114706933 N . N N . . 0.244911849 37.3 . . NXPE3 3 101779202 101828229 N . N N -0.73214908 13.11570296 0.402099827 32.7 . . NXPE4 11 114570591 114595762 N . N N 1.164699834 94.68657753 2.75E-08 87.8 . . NXPH1 7 8433955 8752963 N . N Y -0.53817717 18.67222319 0.555861072 28.5 DM? . NXPH2 2 138670772 138780348 N . N N -0.214586899 34.6414308 0.798014407 21.8 . . NXPH3 17 49575858 49583827 N . N Y -0.106673287 41.69126584 0.79327242 21.9 . . NXPH4 12 57216795 57226449 N . N Y -0.060698235 45.04254211 0.462095794 31.1 . . NXT1 20 23350736 23354777 N . N N 0.001088113 49.55142675 0.574740218 28.1 . . NXT2 X 109535781 109544690 N . N N 0.327549473 72.20003473 0.777280518 22.4 . . NYAP1 7 100483927 100494799 N . N N -0.474019054 21.27684204 0.99093213 9.7 . . NYAP2 2 225400648 225654018 N . N N -0.262975874 31.66058922 0.906196258 17.5 . . NYNRIN 14 24398786 24419288 N . N N -1.675186391 2.535162355 0.000549672 66.8 . . NYX X 41447434 41475710 N . N N . . 0.06241315 45.8 DM Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) OAF 11 120210767 120230332 N . N N 0.735741938 87.75250333 0.006168883 57.1 . . OARD1 6 41033627 41097787 N . N N 0.405450329 76.1185391 0.123751371 41.9 DM . OAS1 12 112906777 112933222 N Viable N Y 1.420795053 96.48665856 0.001239241 63.8 DFP {Viral infection, susceptibility to} (3); {Diabetes mellitus, type 1, susceptibility to}, 222100 (3) OAS2 12 112978395 113011723 N . N N -0.547138186 18.31336459 1.89E-14 96.6 FTV . OAS3 12 112938352 112973249 N . N N 1.264656803 95.54320773 1.82E-23 99.2 DM? . OASL 12 121019111 121039242 N . N Y 0.118719679 58.66180471 5.07E-12 94.7 . . OAZ1 19 2269509 2273490 N . N N 0.630694555 85.08421601 0.088995157 43.8 DP . OAZ2 15 64687573 64703281 N . N N -0.03642736 46.82525901 0.866153028 19.2 . . OAZ3 1 151762969 151771332 N . N Y 0.195362073 64.12571627 9.17E-05 72.1 . . OBFC1 10 103882542 103918205 N . N N 0.308057642 70.95560572 1.33E-05 77.3 . . OBP2A 9 135546139 135549969 N . N N 1.379305906 96.2840771 0.000133914 71 . . OBP2B 9 133205277 133209250 N Viable N Y 1.051851176 93.37269202 0.182972936 39.2 . . OBSCN 1 228208130 228378876 N . N Y 11.76477189 99.95948371 5.36E-91 100 DM . OBSL1 2 219550729 219571859 N . N N 0.887310887 90.89541008 6.64E-16 97.4 DM 3-M syndrome 2, 612921 (3) OC90 8 132024220 132059380 N . N Y 0.900157756 91.09220351 8.17E-09 89.2 . . OCEL1 19 17226204 17229219 N . N N 1.049125804 93.34953985 0.000144705 70.8 . . OCIAD1 4 48805212 48861817 N . N N -0.160151469 38.02743532 4.72E-06 79.7 . . OCIAD2 4 48885019 48906937 N . N N 0.457973076 78.70579383 0.004591571 58.6 . . OCLM 1 186400572 186401455 N . N N 0.143647524 60.46767379 0.017329039 52.4 . . OCLN 5 69492292 69558104 N . N Y 0.657986057 85.85402558 0.49102545 30.2 DM Band-like calcification with simplified gyration and polymicrogyria, 251290 (3) OCM 7 5879827 5886362 N . N N 0.345424702 73.15506164 5.57E-06 79.3 . . OCM2 7 97984684 97991169 N . N Y 0.571478862 83.14522197 0.080068737 44.5 . . OCRL X 129539849 129592561 N . N Y -0.470494176 21.42154309 0.999918298 3.6 DM Lowe syndrome, 309000 (3); Dent disease 2, 300555 (3) OCSTAMP 20 46540946 46550574 N Viable N Y . . . . . . ODAM 4 70196496 70204576 N . N N 0.140120824 60.21878798 1.16E-13 96 . . ODF1 8 102551572 102561017 N . N Y 0.607228418 84.37228686 0.417383751 32.3 . . ODF2L 1 86346824 86396342 N . N N 0.334544937 72.53574116 3.32E-09 90 . . ODF3 11 196738 200261 N . N N 0.454294559 78.50321236 0.586974862 27.8 . . ODF3B 22 50529710 50532580 N . N N 0.594944888 83.97870001 0.009167458 55.3 . . ODF3L1 15 75723977 75727688 N . N N 0.579127749 83.41725994 5.18E-07 83.7 . . ODF3L2 19 463346 474983 N Viable N Y . . 0.003142588 60.1 . . ODF4 17 8339864 8346046 N . N N 0.51527665 81.07889101 0.000650824 66.2 . . OFCC1 6 9596110 10211608 N . N N . . . . . . OFD1 X 13734745 13769353 N . N Y 0.237962628 66.68981883 0.982887662 11.3 DM Orofaciodigital syndrome I, 311200 (3); Simpson-Golabi-Behmel syndrome, type 2, 300209 (3); Joubert syndrome 10, 300804 (3); ?Retinitis pigmentosa 23, 300424 (3) OGDHL 10 49734643 49762379 N . N N -0.542073019 18.50436997 3.47E-05 74.8 . . OGFOD1 16 56451490 56479100 N . N Y 0.338220438 72.790415 1.29E-08 88.6 . . OGFOD2 12 122974580 122980043 N . N N 0.494828508 80.28592927 3.81E-07 84.1 . . OGFOD3 17 82389223 82418637 N Viable N Y 0.821295921 89.5583724 0.000595569 66.5 . . OGFR 20 62804835 62814000 N . N N . . 0.01341817 53.7 . . OGFRL1 6 71288803 71308950 N . N N -0.385242872 25.15483012 0.000150359 70.6 . . OGG1 3 9749944 9788219 N . N Y 0.258557786 67.96318805 7.80E-08 86.4 DM Renal cell carcinoma, clear cell, somatic, 144700 (3) OGN 9 92383967 92404696 N . N Y -0.462188395 21.78618973 0.00751075 56.3 . . OGT X 71533083 71575897 N . N N -0.650725068 15.36146322 0.999947207 3.3 . . OIP5 15 41309268 41332621 N . N N -0.11785159 40.91566823 1.54E-08 88.4 . . OIT3 10 72893581 72933033 N . N Y -0.479758918 21.01638016 1.04E-09 91.1 . . OLA1 2 174072447 174248698 N . N N -0.209801572 34.94819702 0.0436207 47.8 . . OLAH 10 15032227 15073852 N Viable N Y -0.006263422 49.00156277 0.001328464 63.6 . . OLFM1 9 135075243 135121179 N . N Y -0.980873791 8.219019506 0.935993731 15.8 . . OLFM2 19 9853718 9936552 N . N N -0.819471332 11.19407305 0.964592021 13.5 DM . OLFM3 1 101802574 101997030 N . N N -0.720970763 13.3703768 6.97E-05 72.9 . . OLFM4 13 53028759 53052057 N . N Y 0.110259893 58.00196793 2.41E-06 80.9 FTV . OLFML1 11 7485388 7511377 N . N N 0.978869896 92.46975748 0.000497437 67 . . OLFML2A 9 124777158 124814885 N . N N 0.986682536 92.61445853 1.74E-05 76.6 . . OLFML2B 1 161983192 162023854 N . N N 0.445486114 78.1212016 3.02E-06 80.5 . . OLFML3 1 113979391 114035572 N . N Y -0.297923775 29.57689414 0.000588287 66.5 . . OLIG1 21 33070144 33072420 N . N Y . . 0.119038216 42.2 . . OLR1 12 10158301 10172138 N . N Y -0.114176312 41.19928228 0.297321524 35.8 DFP {Myocardial infarction, susceptibility to}, 608446 (3) OMA1 1 58415384 58546802 N . N Y 0.662769054 86.01030271 3.51E-09 90 . . OMD 9 92414245 92424461 N . N Y 0.466579567 79.16883718 0.002350833 61.3 . . OMG 17 31272013 31297539 N . N Y -0.188249534 36.2562945 0.863213192 19.4 DM . OMP 11 77102840 77103331 N . N Y 0.712275627 87.20263935 0.045566821 47.5 . . ONECUT2 18 57435685 57491297 N . N Y -0.992051392 7.993285871 0.903998414 17.6 . . ONECUT3 19 1752373 1780988 N . N N . . . . . . OOEP 6 73368555 73395133 N . N Y -0.018550615 48.01759565 0.230723598 37.7 . . OOSP2 11 60040275 60048044 N . N N -0.011047557 48.60797592 . . . . OPALIN 10 96343216 96359365 N . N N 0.542421446 82.15546681 0.060642755 45.9 . . OPCML 11 132414977 133532519 N . N N -0.293291902 29.80841581 0.578155981 28 DM {Ovarian cancer, somatic}, 167000 (3) OPLAH 8 144051266 144063832 N . N Y . . 2.99E-11 93.7 DM 5-oxoprolinase deficiency, 260005 (3) OPN1LW X 154144224 154159032 N . N N 0.623191232 84.85269433 0.907796475 17.5 DM Colorblindness, protan, 303900 (3); Blue cone monochromacy, 303700 (3) OPN1MW X 154182596 154196135 N . N Y . . 0.502014147 29.9 DM Colorblindness, deutan, 303800 (3); Blue cone monochromacy, 303700 (3) OPN1MW2 X 154219756 154233286 N . N N . . 0.574117353 28.1 . . OPN1MW3 X 154257538 154271805 N . N N . . . . . . OPN1SW 7 128772491 128775790 N . N N 0.279958701 69.3233779 0.369090989 33.6 DM Colorblindness, tritan, 190900 (3) OPN3 1 241590102 241677376 N . N N 0.133574517 59.72680442 0.84628904 20 . . OPN4 10 86654557 86666848 N . N Y -0.19831891 35.60224576 1.10E-06 82.4 DP . OPN5 6 47781982 47832780 N . N N -0.302709198 29.29906813 0.948752683 14.9 . . OPRD1 1 28812142 28871267 N . N Y -0.248273713 32.55773572 0.109062189 42.7 DFP . OPRK1 8 53225716 53251697 N . N Y -0.524930204 19.22208717 0.018815519 52 DFP . OPRL1 20 64080173 64100643 N . N Y -0.151538959 38.60623951 0.602075924 27.4 DM? . OPRM1 6 154010496 154246867 N . N Y 1.492162071 96.94391387 4.21E-05 74.3 DFP . OPTC 1 203494143 203508864 N . N Y 0.348442859 73.32291486 4.31E-07 83.9 DM . OR10A2 11 6869693 6870745 N . N N 0.262082672 68.1773456 0.000920372 65 . . OR10A3 11 7938534 7939594 N . N N 0.914059295 91.35266539 4.36E-09 89.7 . . OR10A4 11 6876625 6877619 N . N Y 0.861534378 90.39763848 2.78E-05 75.4 . . OR10A5 11 6845652 6846705 N . N N 0.787456004 88.92747583 0.008422131 55.7 . . OR10A6 11 7927718 7928662 N . N N 0.469449146 79.30196215 8.59E-09 89.1 . . OR10A7 12 55221025 55221975 N . N N 1.074505402 93.68524628 0.268100024 36.5 . . OR10AD1 12 48202083 48203387 N . N N 0.922519097 91.57839903 0.003516762 59.7 . . OR10AG1 11 55967558 55968463 N . N N 0.617600446 84.70220524 0.000135734 71 . . OR10C1 6 29440016 29440954 N . N N 1.831645318 98.2462233 0.227592079 37.8 FTV . OR10D3 11 124185216 124186245 N . N N . . . . . . OR10G2 14 21633836 21634940 N . N N 0.810922742 89.35000289 0.046093647 47.5 . . OR10G3 14 21569803 21570744 N . N N 1.005059293 92.82282804 0.234560474 37.6 . . OR10G4 11 124015575 124016510 N . N N 1.705970276 97.91630491 0.216924072 38.2 . . OR10G6 11 123994163 123995161 N . N N . . . . . . OR10G7 11 124038066 124039010 N . N N 2.398562834 99.07970134 0.007122109 56.5 . . OR10G8 11 124029590 124030634 N . N N 1.091425568 93.87046362 0.636591633 26.4 . . OR10G9 11 124023013 124023948 N . N N 2.869771899 99.44434798 0.007138452 56.5 . . OR10H1 19 15807003 15808126 N . N N 0.780909061 88.81750304 0.637065116 26.4 . . OR10H2 19 15728020 15729060 N . N N 0.098929771 57.09324536 0.007636435 56.2 . . OR10H3 19 15741393 15742343 N . N N 0.839023849 89.99247555 0.00545456 57.7 . . OR10H4 19 15949008 15949958 N . N N 1.506066562 96.97864213 0.000560233 66.7 . . OR10H5 19 15793951 15795082 N . N N 1.706926614 97.93945708 0.043953004 47.7 . . OR10J1 1 159439722 159440811 N . N N 0.819382688 89.51785611 1.59E-08 88.4 . . OR10J3 1 159313670 159314659 N . N N 0.187052315 63.62794467 0.001039428 64.6 . . OR10J5 1 159535078 159536007 N . N N 0.367125811 74.23163744 0.723391071 23.9 . . OR10K1 1 158465562 158466503 N . N N 0.799593969 89.15320947 0.013099189 53.8 . . OR10K2 1 158419928 158420866 N . N N 0.224567453 65.92000926 8.05E-05 72.6 . . OR10P1 12 55636860 55637854 N . N N 0.605463152 84.30861839 0.019235079 51.9 . . OR10Q1 11 58227882 58228918 N . N N 0.226480797 66.06471031 0.254569448 37 . . OR10R2 1 158479878 158480885 N . N N 1.234956206 95.35799039 0.044375651 47.7 . . OR10S1 11 123976661 123977781 N . N N 0.294008138 70.13370377 0.001889299 62.1 . . OR10T2 1 158398522 158399466 N . N N 0.954446134 92.08195867 0.063110527 45.7 . . OR10V1 11 59712823 59713864 N . N N 0.747069906 88.03032934 0.001681465 62.6 DM? . OR10W1 11 58266792 58268260 N . N N 0.436566952 77.72182671 0.047326021 47.3 . . OR10X1 1 158578919 158579899 N . N N 0.537934204 81.97024946 0.005902742 57.3 FTV . OR10Z1 1 158606439 158607380 N . N N 0.407510974 76.22851189 0.00736423 56.4 DP . OR11A1 6 29425504 29457071 N . N N 0.077226532 55.46680558 0.043484403 47.8 . . OR11G2 14 20197336 20198446 N . N N 0.595090612 83.99027609 0.00022869 69.4 . . OR11H1 22 15528158 15529139 N . N N . . 0.769596447 22.6 . . OR11H12 14 18601045 18602129 N . N N . . 0.79839868 21.7 . . OR11H2 14 19712936 19713920 N . N N . . . . . . OR11H4 14 20242739 20243820 N . N N 0.263995952 68.32783469 6.23E-05 73.3 . . OR11H6 14 20223632 20224805 N . N N 1.41314539 96.45193031 0.021049156 51.3 . . OR11L1 1 247840928 247841896 N . N N 0.968497077 92.30190427 0.019479858 51.8 . . OR12D2 6 29396700 29397623 N . N N 1.201115834 95.01649592 0.601033125 27.4 FP . OR12D3 6 29373423 29375291 N . N N -0.142274465 39.26028824 1.34E-05 77.3 . . OR13A1 10 45302654 45315608 N . N N 0.359772785 73.92487122 0.000212217 69.7 . . OR13C2 9 104604671 104605627 N . N N 0.970409785 92.33084448 0.044347988 47.7 . . OR13C3 9 104535749 104536856 N . N N 0.370952088 74.45158303 0.000119524 71.3 . . OR13C4 9 104526253 104527209 N . N N 0.550071139 82.43908086 5.66E-08 86.8 . . OR13C5 9 104598457 104599413 N . N N 1.683455541 97.85842449 0.624784091 26.8 . . OR13C8 9 104569168 104570130 N . N N 0.178592613 63.09544481 0.012318064 54.1 . . OR13C9 9 104617248 104618204 N . N N 1.141084038 94.44347977 0.043665235 47.7 . . OR13D1 9 104694422 104695462 N . N N 0.952533561 92.05301846 0.010955869 54.5 . . OR13F1 9 104504263 104505222 N . N N 0.748026206 88.05926955 0.000231792 69.3 . . OR13G1 1 247672118 247673041 N . N N 0.435610474 77.68131041 0.005667958 57.5 DP . OR13H1 X 131544074 131545000 N . N N 0.674758577 86.28812873 0.066074216 45.4 DM? . OR13J1 9 35869263 35870601 N . N N -0.138446759 39.5439023 1.01E-05 78 . . OR14A16 1 247814800 247815729 N . N N 0.290181792 69.94269839 0.005998375 57.2 . . OR14A2 1 247723099 247724043 N . N N . . . . . . OR14C36 1 248348775 248349713 N . N N 0.412144579 76.45424553 0.010180069 54.8 . . OR14I1 1 248681369 248682304 N . N N 1.044490311 93.30902356 3.00E-05 75.2 . . OR14J1 6 29306690 29307655 N . N N 0.123201392 58.99751114 8.02E-08 86.4 . . OR14K1 1 247738615 247739559 N . N N . . 0.002407092 61.2 . . OR1A1 17 3215621 3216550 N . N N 0.861534378 90.39763848 0.000357575 68.1 . . OR1A2 17 3197519 3198448 N . N N 0.517189167 81.13098339 0.013214652 53.8 . . OR1B1 9 122628579 122629535 N . N N 0.853074636 90.25293743 0.000898341 65.1 FTV . OR1C1 1 247757462 247758406 N . N N -0.084968981 43.20194478 0.253342625 37 . . OR1D2 17 3092058 3092996 N . N N 0.610097161 84.49383574 0.002382562 61.3 . . OR1D5 17 3062669 3063607 N . N N 0.829607924 89.778318 0.712159403 24.3 . . OR1E1 17 3397104 3398410 N . N N 0.298641418 70.42310586 0.111199868 42.5 . . OR1E2 17 3432870 3433841 N . N N 0.490045546 80.10071193 0.020874072 51.4 . . OR1F1 16 3204247 3205188 N . N N 0.75935546 88.29657927 8.88E-05 72.2 . . OR1G1 17 3126584 3127581 N . N N 0.140120824 60.21878798 0.008711007 55.5 . . OR1I1 19 15086980 15088221 N . N N 1.446986702 96.68924003 0.00172069 62.5 . . OR1J1 9 122476958 122477926 N . N N 0.536021154 81.91815709 0.008024653 55.9 DM? . OR1J2 9 122510802 122511743 N . N N 0.369038883 74.34161023 0.00168245 62.6 . . OR1J4 9 122519141 122520082 N . N N 0.327697272 72.21161081 0.240446421 37.3 . . OR1K1 9 122800123 122801073 N . N N 0.848440048 90.17769289 0.000145199 70.7 . . OR1L1 9 122661566 122662648 N . N N 1.071637256 93.65051803 0.000185743 70 . . OR1L3 9 122675130 122676104 N . N N 0.549114755 82.41014065 0.000337194 68.3 . . OR1L4 9 122723990 122724925 N . N N 1.128944711 94.31035481 0.043165056 47.8 . . OR1L6 9 122749740 122750783 N . N N 1.020066747 93.01383342 0.010695662 54.7 . . OR1L8 9 122567548 122568477 N . N N 0.533151945 81.77345604 0.325912944 35 . . OR1M1 19 9093179 9094213 N . N N 0.628929435 85.03212363 0.00018347 70.1 . . OR1N1 9 122526358 122527296 N . N N 0.421560678 76.91728888 0.002943785 60.4 . . OR1N2 9 122553112 122555173 N . N N 0.375585437 74.723621 0.00140501 63.3 . . OR1Q1 9 122614738 122615682 N . N N 0.616644153 84.65011287 0.000120115 71.3 . . OR1S1 11 58214745 58215722 N . N N 1.343839326 96.06991955 0.0079009 56 FP . OR1S2 11 58203202 58204181 N . N N 1.442351399 96.67766395 0.00106333 64.5 . . OR2A1 7 144318125 144319057 N . N N . . 0.646778692 26.1 . . OR2A12 7 144095048 144096093 N . N N 0.412144579 76.45424553 0.000159693 70.5 . . OR2A14 7 144109583 144130069 N . N N 0.37749856 74.80465359 0.002127035 61.6 . . OR2A2 7 144109514 144110564 N . N N 0.218021088 65.55536262 0.391377426 33 . . OR2A25 7 144074182 144075195 N . N N 0.718012692 87.37049256 0.347763291 34.3 . . OR2A4 6 131700469 131701401 N . N N 0.45892919 78.75788621 0.68482796 25 . . OR2A42 7 144231911 144232843 N . N N . . 0.595675112 27.5 . . OR2A5 7 144050368 144051380 N . N N 0.929066508 91.70573595 2.24E-05 75.9 . . OR2A7 7 144258607 144259722 N . N N 0.018159209 50.92319268 . . . . OR2AE1 7 99875987 99877057 N . N N 0.679539596 86.40388956 0.00537432 57.8 . . OR2AG1 11 6785038 6785988 N . N N 0.694546274 86.78590033 8.88E-06 78.4 . . OR2AG2 11 6767987 6769055 N . N N 1.128944711 94.31035481 0.216721902 38.2 . . OR2AJ1 1 247933769 247934755 N . N N . . 0.015283314 53 . . OR2AK2 1 247965233 247966339 N . N N 0.846527348 90.14296464 0.015957698 52.8 . . OR2AP1 12 55574415 55575344 N . N N . . 0.002903946 60.5 . . OR2AT4 11 75088713 75089754 N . N N 0.451573248 78.41060369 0.046085153 47.5 . . OR2B11 1 247451029 247451982 N . N N 1.681543252 97.84106037 0.021516518 51.3 . . OR2B2 6 27911185 27912396 N . N N 0.381175578 74.97829484 6.87E-05 72.9 . . OR2B3 6 29086307 29087313 N . N N -0.172286507 37.23447358 0.001336932 63.6 . . OR2B6 6 27957241 27958182 N . N N -0.142274465 39.26028824 0.040730928 48.2 . . OR2C1 16 3355889 3357294 N . N N 0.794959429 89.10690513 0.097548172 43.3 . . OR2C3 1 247530132 247533839 N . N N 0.635476197 85.21734097 0.114992647 42.4 . . OR2D2 11 6891490 6892599 N . N N 0.831520358 89.83041037 5.51E-07 83.6 . . OR2D3 11 6920974 6922043 N . N N 0.960037204 92.19771951 0.003089507 60.2 . . OR2F2 7 143935166 143936279 N . N N 0.036035566 52.3065347 0.000573456 66.6 . . OR2G2 1 247588360 247589313 N . N N 0.225524115 65.99525381 0.057128042 46.3 . . OR2G3 1 247605586 247606515 N . N N 0.867125588 90.48445911 0.057092658 46.3 . . OR2G6 1 248521647 248522597 N . N N 0.052955103 53.58569196 0.009751701 55 . . OR2H1 6 29457181 29464328 N . N N 1.838195076 98.27516351 0.044904061 47.6 . . OR2H2 6 29587455 29589038 N . N N 0.905599564 91.18481218 0.089945925 43.8 . . OR2J2 6 29173303 29174574 N . N N 0.762076736 88.34867164 0.010726719 54.6 . . OR2J3 6 29111891 29112826 N . N N 0.739566505 87.83932396 0.028143501 50 FP [C3HEX, ability to smell], 615082 (3) OR2K2 9 111327483 111328520 N . N N 0.058544531 53.99664294 0.001461518 63.1 . . OR2L13 1 247937191 248100922 N . N N 0.511598665 80.93418996 0.014419191 53.4 . . OR2L2 1 248038268 248039206 N . N N 0.794959429 89.10690513 0.001867748 62.1 . . OR2L3 1 248060682 248061620 N . N N 1.378491392 96.27250101 6.39E-05 73.2 . . OR2L5 1 248021948 248022886 N . N N 0.196468728 64.17780865 7.11E-05 72.9 . . OR2L8 1 247948858 247949796 N . N N 1.227452183 95.27695781 0.17916862 39.4 . . OR2M2 1 248179986 248181029 N . N N 0.31747395 71.6154425 0.000216665 69.6 DM? . OR2M3 1 248203068 248204006 N . N N 0.97600073 92.40030098 0.067199712 45.3 . . OR2M4 1 248238929 248239864 N . N N 0.252666418 67.59275337 0.000224878 69.4 . . OR2M5 1 248145148 248146086 N . N N 1.843930945 98.29831568 0.001566155 62.9 . . OR2M7 1 248323630 248324568 N . N N 1.188019818 94.94703942 0.01235641 54.1 . . OR2S2 9 35957139 35958098 N . N N 1.346562211 96.08149563 0.000575667 66.6 . . OR2T1 1 248405995 248407104 N . N N 0.410380843 76.3674249 7.29E-07 83.1 . . OR2T10 1 248592830 248593768 N . N N 0.381175578 74.97829484 0.000155749 70.5 . . OR2T11 1 248626178 248627128 N . N N 1.574564107 97.35486485 2.01E-05 76.2 . . OR2T12 1 248294616 248295578 N . N N 2.194932031 98.85975574 0.017041702 52.5 . . OR2T2 1 248452798 248453772 N . N N 1.877779187 98.36198414 0.692627481 24.8 . . OR2T27 1 248649931 248650884 N . N N 2.777759553 99.35752735 0.000134198 71 . . OR2T29 1 248558544 248559491 N . N N . . 0.476864535 30.6 . . OR2T3 1 248473351 248474307 N . N N 2.033480821 98.62244603 0.358715347 34 . . OR2T33 1 248272852 248273814 N . N N 3.219974176 99.61798923 0.016492203 52.7 . . OR2T34 1 248573801 248574757 N . N N 2.548703349 99.22440238 0.746970218 23.2 . . OR2T35 1 248638287 248639258 N . N N . . 0.536149911 29 . . OR2T4 1 248361581 248362627 N . N N 3.034963578 99.54853273 0.337136812 34.7 . . OR2T5 1 248488589 248489536 N . N N . . 0.620583477 26.9 FTV . OR2T6 1 248387609 248388535 N . N N 1.134536169 94.39138739 0.050581547 46.9 . . OR2T8 1 247921018 247921956 N . N N 2.688480138 99.30543497 0.717437697 24.1 . . OR2V1 5 181124357 181125304 N . N N 0.550071139 82.43908086 1.74E-08 88.3 . . OR2V2 5 181154943 181155890 N . N N 0.739566505 87.83932396 0.225731244 37.8 . . OR2W1 6 29044213 29045240 N . N N 0.008742604 50.21705157 0.086561891 44 . . OR2W3 1 247895587 247896531 N . N N 1.386951884 96.32459339 0.079635091 44.5 . . OR2Y1 5 180739042 180740099 N . N N 0.611053519 84.5169879 5.16E-07 83.7 . . OR2Z1 19 8730954 8732009 N . N N 0.014483413 50.59906234 1.27E-08 88.6 . . OR3A1 17 3291635 3292600 N . N N 1.060454103 93.48266481 0.029568461 49.7 . . OR3A2 17 3277899 3278974 N . N N 1.391588024 96.3535336 0.564393311 28.4 . . OR3A3 17 3420568 3421533 N . N N 0.415822269 76.63946287 0.416001528 32.4 . . OR4A15 11 55367884 55368918 N . N N 0.463054026 78.98940788 . . . . OR4A16 11 55343201 55344187 N . N N 1.766159786 98.1073103 2.61E-05 75.6 . . OR4A47 11 48488717 48489780 N . N N 0.328803814 72.25791515 1.43E-05 77.1 . . OR4A5 11 54706885 54707832 N . N N 1.138513186 94.4203276 . . . . OR4B1 11 48216792 48217762 N . N N 0.530431019 81.67505933 0.010938019 54.5 . . OR4C11 11 55603354 55604398 N . N N 1.727529043 97.99154946 1.41E-06 82.1 . . OR4C12 11 49981473 49982535 N . N N 0.474082735 79.50454361 0.23821319 37.4 . . OR4C13 11 49952391 49953419 N . N N 0.661812332 85.96978642 8.59E-09 89.1 . . OR4C15 11 55554307 55555419 N . N N 1.222970359 95.25380564 3.39E-11 93.6 . . OR4C16 11 55572128 55573060 N . N N 1.098122688 93.92834404 . . . . OR4C3 11 48324920 48328471 N . N N 2.044013592 98.63402211 0.008745131 55.5 . . OR4C46 11 54603069 54603998 N . N N 1.410571903 96.42877814 8.77E-07 82.8 . . OR4C5 11 48365485 48366465 N . N N . . 0.016567663 52.6 . . OR4C6 11 55665167 55666096 N . N N 0.653352401 85.7324767 1.08E-05 77.8 . . OR4D1 17 58155133 58156156 N . N N 0.085686282 56.13821844 0.000295714 68.7 . . OR4D10 11 59477373 59478396 N . N N 0.073550514 55.19476761 0.064012392 45.6 . . OR4D11 11 59503576 59504511 N . N N 0.527561494 81.54772241 0.000895035 65.1 . . OR4D2 17 58169656 58170579 N . N N 0.754573317 88.21554668 0.01384437 53.6 . . OR4D5 11 123939543 123940637 N . N N 1.014475406 92.93280083 0.001867571 62.1 . . OR4D6 11 59456938 59457991 N . N N 1.938632651 98.44301673 0.015012118 53.2 . . OR4D9 11 59514913 59515857 N . N N 0.824016877 89.62204086 4.89E-05 74 . . OR4E2 14 21665083 21666024 N . N N 0.899052125 91.06905134 0.000222164 69.5 . . OR4F15 15 101805720 101819147 N . N N 0.853074636 90.25293743 0.205470538 38.6 . . OR4F16 1 685716 686654 N . N N . . . . . . OR4F17 19 107461 111696 N . N N . . 0.505111518 29.8 . . OR4F21 8 166049 167043 N . N N . . . . . . OR4F29 1 450740 451678 N . N N . . . . . . OR4F3 5 181367268 181368262 N . N N . . . . . . OR4F4 15 101922042 101923095 N . N N . . 0.545956056 28.7 . . OR4F5 1 69091 70008 N . N N . . 0.176329298 39.5 FP . OR4F6 15 101805699 101806686 N . N N 0.178592613 63.09544481 1.34E-05 77.3 . . OR4K1 14 19935608 19936683 N . N N 1.255703836 95.48532731 2.21E-06 81.1 . . OR4K13 14 20033844 20034760 N . N N 0.769580165 88.55704115 6.76E-05 73 . . OR4K14 14 20014260 20015193 N . N N 0.404641438 76.06644672 0.027453438 50.1 . . OR4K15 14 19975444 19976659 N . N N 1.213400536 95.16119697 0.635537855 26.5 . . OR4K17 14 20117407 20118438 N . N N 0.068917845 54.82433293 0.047180154 47.3 . . OR4K2 14 19876232 19877309 N . N N 0.100843326 57.30161486 8.67E-06 78.4 . . OR4K5 14 19920582 19921659 N . N N 1.313822724 95.88470221 0.000430658 67.5 . . OR4L1 14 20060045 20060983 N . N N 1.439482295 96.64293569 0.002783407 60.7 . . OR4M1 14 19780242 19781357 N . N N 1.147778493 94.50714823 0.005168787 58 . . OR4M2 15 22080527 22081659 N . N N 1.881609134 98.37934827 . . DM? . OR4N2 14 19719015 19828372 N . N N 1.308232128 95.84997395 0.073788912 44.8 . . OR4N4 15 22094431 22095556 N . N N 2.545980852 99.21861434 0.018050601 52.2 . . OR4N5 14 20143736 20144662 N . N N 0.800550194 89.16478555 0.235716666 37.5 . . OR4P4 11 55638358 55639296 N . N N 0.754573317 88.21554668 0.057383801 46.3 . . OR4Q3 14 19747428 19748369 N . N N 1.202219246 95.03964809 . . . . OR4S1 11 48306223 48307152 N . N N 0.659899072 85.911906 0.004617191 58.5 . . OR4S2 11 55650904 55651839 N . N N 1.76969231 98.11309834 0.001038603 64.6 . . OR4X1 11 48263861 48264778 N . N N 0.447896377 78.26590265 0.000157675 70.5 DP . OR4X2 11 48245104 48246015 N . N N 0.17778674 63.04335243 1.11E-08 88.8 . . OR51A2 11 4954772 4955713 N . N N 1.587662081 97.41853331 0.645582291 26.2 FP . OR51A4 11 4946159 4947100 N . N N 1.401960496 96.38826185 0.239072288 37.4 . . OR51A7 11 4907370 4908308 N . N N 0.080096755 55.71569138 1.66E-06 81.7 . . OR51B2 11 5323359 5324297 N . N N -0.002436163 49.25623662 0.007355186 56.4 . . OR51B4 11 5301014 5301996 N . N N 0.831520358 89.83041037 0.012339243 54.1 . . OR51B5 11 5342586 5343524 N . N N 1.516439417 97.04231059 0.000317629 68.5 . . OR51B6 11 5351508 5352446 N . N N 1.940544519 98.45459281 0.000174878 70.2 . . OR51D1 11 4639715 4640838 N . N N 0.57545022 83.27834694 0.001709584 62.5 . . OR51E1 11 4643420 4655488 N . N N 0.663576603 86.05081901 0.000349921 68.2 . . OR51E2 11 4680171 4697854 N . N Y -0.008025521 48.81634543 0.003691226 59.4 . . OR51F1 11 4768979 4769917 N . N N 1.264016275 95.53163165 0.053940335 46.5 FTV . OR51F2 11 4821386 4822414 N . N N 0.696459078 86.83220467 0.000112097 71.5 . . OR51G1 11 4923374 4924339 N . N N 1.106433189 94.00937663 6.16E-05 73.3 FP . OR51G2 11 4914719 4915663 N . N N 0.522927841 81.36829311 0.003100737 60.2 . . OR51H1 11 4859656 4860564 N . N N . . . . . . OR51I1 11 5440570 5441514 N . N N 1.311909714 95.87312612 0.002377027 61.3 FTV . OR51I2 11 5453489 5454427 N . N N 0.909424628 91.26584476 0.000888957 65.2 . . OR51J1 11 5402597 5403547 N . N N . . . . . . OR51L1 11 4998983 4999930 N . N N 1.208619869 95.10331655 0.015580366 53 . . OR51M1 11 5389399 5390379 N . N N 1.743495203 98.03785379 0.253410704 37 . . OR51Q1 11 5422111 5423206 N . N N 1.28189325 95.6763327 0.003685054 59.4 . . OR51S1 11 4848237 4849208 N . N N 0.734932275 87.72356312 0.00381804 59.3 . . OR51T1 11 4881819 4882883 N . N N -0.106521065 41.70862997 0.019722347 51.8 . . OR51V1 11 5199735 5200700 N . N N 0.378455173 74.86832205 0.003714741 59.4 . . OR52A1 11 5151009 5186382 N . N N 0.139164133 60.1377554 0.001070019 64.5 . . OR52A5 11 5131692 5132642 N . N N 0.755529606 88.24448689 0.000168134 70.3 . . OR52B2 11 6169330 6170408 N . N N 1.492013478 96.93812583 5.18E-05 73.8 . . OR52B6 11 5580877 5581884 N . N N 0.922519097 91.57839903 0.073588528 44.8 . . OR52D1 11 5488685 5489749 N . N N 0.022943191 51.29941541 0.003674386 59.4 . . OR52E2 11 5058650 5059627 N . N N 1.492013478 96.93812583 0.000427749 67.6 . . OR52E4 11 5884271 5885300 N . N N 1.028526616 93.14117034 4.45E-07 83.9 . . OR52E5 11 5900777 5902090 N . N N . . . . . . OR52E6 11 5840928 5841952 N . N N 1.523943957 97.07703884 0.068094888 45.2 . . OR52E8 11 5856674 5857734 N . N N 0.886914013 90.88962204 0.016692038 52.6 . . OR52H1 11 5544561 5545523 N . N N 1.279980629 95.64160445 0.013070599 53.8 FP . OR52I1 11 4593750 4595013 N . N N 1.689048175 97.87578862 0.062056089 45.8 . . OR52I2 11 4586791 4587905 N . N N 1.144908804 94.47241998 0.074557837 44.8 . . OR52J3 11 5046526 5047461 N . N N 1.538953088 97.15807142 0.001012548 64.7 . . OR52K1 11 4488879 4489908 N . N N 0.394417992 75.55131099 1.75E-05 76.6 . . OR52K2 11 4449295 4450361 N . N N 0.896330612 91.05168721 1.59E-06 81.8 . . OR52L1 11 5985892 5986985 N . N N 1.355978592 96.14516409 0.00634036 57 . . OR52M1 11 4545191 4546144 N . N N 0.685278874 86.54280257 4.69E-06 79.7 . . OR52N1 11 5787854 5788816 N . N N 0.875585258 90.67546449 0.020478535 51.5 . . OR52N2 11 5820314 5821348 N . N N 0.763033015 88.39497598 7.31E-05 72.8 . . OR52N4 11 5754693 5755729 N . N N 0.679539596 86.40388956 3.29E-05 75 FTV . OR52N5 11 5777634 5778667 N . N N 0.473126302 79.46402732 0.049291964 47.1 . . OR52R1 11 4803433 4804380 N . N N 0.93657013 91.82149679 6.92E-06 79 . . OR52W1 11 6199146 6200259 N . N N 0.218021088 65.55536262 0.000404093 67.7 . . OR56A1 11 6026671 6027741 N . N N 0.134531237 59.82520113 0.263101577 36.7 . . OR56A3 11 5947340 5948361 N . N N -0.09438571 42.50159171 7.11E-08 86.6 . . OR56A4 11 6001986 6003194 N . N N 0.242443541 67.04288939 0.307699476 35.5 . . OR56A5 11 5967177 5968494 N . N N . . . . . . OR56B1 11 5736517 5737491 N . N N 0.846527348 90.14296464 1.27E-08 88.6 . . OR56B4 11 6107684 6108835 N . N N -0.018398956 48.03495977 1.19E-05 77.6 . . OR5A1 11 59443144 59444194 N . N N 0.891548555 90.97644267 2.03E-05 76.2 . . OR5A2 11 59421943 59422976 N . N N 0.314604136 71.36076865 0.001403982 63.3 . . OR5AC2 3 98087173 98088102 N . N N 0.475995728 79.57978816 5.96E-05 73.4 DM? . OR5AK2 11 56988872 56989867 N . N N 0.552940591 82.54905366 2.88E-07 84.6 . . OR5AN1 11 59364412 59365448 N . N N 0.21610777 65.42223766 0.001177313 64.1 . . OR5AP2 11 56641466 56642471 N . N N 0.140120824 60.21878798 0.069223233 45.1 . . OR5AR1 11 56663686 56664618 N . N N 0.104519243 57.57365283 0.000179721 70.1 . . OR5AS1 11 56030419 56031393 N . N N 0.930978973 91.7404642 0.255635873 36.9 . . OR5AU1 14 21154865 21156063 N . N N 1.593398208 97.45326156 1.42E-06 82 . . OR5B12 11 58439120 58440173 N . N N 0.352119595 73.52549632 0.310930146 35.4 . . OR5B17 11 58358124 58359069 N . N N 1.021022884 93.04277363 0.077236341 44.6 . . OR5B2 11 58422265 58423313 N . N N 0.505051907 80.64478787 0.00563537 57.6 . . OR5B21 11 58507175 58508105 N . N N 0.375585437 74.723621 9.45E-05 72.1 . . OR5B3 11 58402464 58403409 N . N N 0.724559727 87.51519361 0.001001727 64.7 . . OR5C1 9 122788933 122789895 N . N N 0.241486849 66.96764485 0.000111246 71.5 . . OR5D13 11 55773438 55774382 N . N N 0.323063788 71.95114893 1.74E-07 85.4 . . OR5D14 11 55795556 55796500 N . N N 1.179559776 94.83127858 0.000814345 65.5 . . OR5D16 11 55838752 55839738 N . N N -0.137489868 39.60757076 2.34E-07 84.9 . . OR5D18 11 55819630 55820571 N . N N 0.602593883 84.18706951 0.000954998 64.9 . . OR5F1 11 55993681 55994625 N . N N 0.340939791 72.94090409 0.006473814 56.9 . . OR5H1 3 98132698 98133639 N . N N 1.835469296 98.26358743 0.067414777 45.3 . . OR5H14 3 98149326 98150405 N . N N 2.407983454 99.10864155 0.000175214 70.2 . . OR5H15 3 98168700 98198138 N . N N 2.383549351 99.05076113 1.78E-06 81.5 . . OR5H2 3 98282888 98283832 N . N N 0.905599564 91.18481218 1.56E-05 76.9 . . OR5H6 3 98264285 98265262 N . N N 0.479822239 79.75921746 4.75E-05 74 FP . OR5I1 11 55935456 55936400 N . N N 0.315560713 71.44180124 0.237661332 37.5 . . OR5J2 11 56176618 56177556 N . N N 0.467536051 79.21514152 0.000124682 71.2 . . OR5K1 3 98469480 98470576 N . N N 0.763033015 88.39497598 9.41E-05 72.1 . . OR5K2 3 98497604 98498663 N . N N 0.157040256 61.54424958 9.19E-05 72.1 . . OR5K3 3 98390666 98391631 N . N N 0.57545022 83.27834694 0.001920531 62 . . OR5K4 3 98353854 98354819 N . N N 1.529536239 97.08861492 9.27E-07 82.6 . . OR5L1 11 55811467 55812402 N . N N 0.856899996 90.31660589 5.94E-07 83.4 . . OR5L2 11 55827219 55828154 N . N N 0.682408952 86.50228628 0.000593861 66.5 . . OR5M1 11 56612555 56613502 N . N N 0.90192108 91.10377959 0.047382673 47.3 . . OR5M10 11 56576774 56577721 N . N N 0.18146271 63.30960236 0.007727632 56.1 . . OR5M11 11 56542340 56543257 N . N N 0.757442393 88.26185102 0.00076255 65.7 . . OR5M3 11 56469574 56470497 N . N N 1.720024043 97.96260925 1.25E-05 77.5 . . OR5M8 11 56490435 56491370 N . N N 1.303449243 95.8152457 0.009733883 55 . . OR5M9 11 56462469 56463401 N . N N 0.89346113 91.022747 0.007750943 56.1 . . OR5P2 11 7795905 7796973 N . N N 0.605463152 84.30861839 0.010138324 54.9 . . OR5P3 11 7825037 7825972 N . N N 0.421560678 76.91728888 0.615021497 27.1 . . OR5R1 11 56417258 56418232 N . N N 1.74158316 98.02048967 2.19E-05 76 . . OR5T1 11 56275639 56276619 N . N N 0.021986393 51.23574695 0.00013089 71.1 . . OR5T2 11 56232106 56233185 N . N N 0.38787158 75.28506106 0.001079075 64.4 . . OR5T3 11 56252200 56253222 N . N N 0.149537247 60.98280952 1.28E-05 77.4 . . OR5V1 6 29355230 29431967 N . N N 0.27517563 69.0050356 0.003442619 59.8 . . OR5W2 11 55913650 55914582 N . N N 0.400007863 75.84071309 0.048812322 47.1 . . OR6A2 11 6794627 6795783 N . N N 0.748026206 88.05926955 0.267851555 36.6 . . OR6B1 7 144003929 144004983 N . N N 0.29113834 69.98900272 3.07E-05 75.2 . . OR6B2 2 240028965 240030456 N . N N 1.157047914 94.57660473 0.695947065 24.7 . . OR6B3 2 240045077 240046072 N . N N 1.452579115 96.72396828 0.064610848 45.6 . . OR6C1 12 55320561 55321624 N . N N 0.330566867 72.36788794 0.012385871 54.1 . . OR6C2 12 55452214 55453152 N . N N 0.497548723 80.36117381 0.65829342 25.8 . . OR6C3 12 55331701 55332636 N . N N 0.506008393 80.70845633 0.00012312 71.3 . . OR6C4 12 55551199 55552244 N . N N 0.295921468 70.25525265 1.10E-07 86 . . OR6C6 12 55294288 55295232 N . N N 1.339057962 96.03519129 0.065837551 45.5 . . OR6C65 12 55400430 55401505 N . N N 0.16167322 61.90310818 0.001061487 64.5 . . OR6C68 12 55492378 55493316 N . N N 0.922519097 91.57839903 0.000123417 71.3 . . OR6C70 12 55469200 55470138 N . N N 0.603550251 84.24494993 1.41E-05 77.2 . . OR6C74 12 55247198 55248302 N . N N 0.418691306 76.76679979 0.078008695 44.6 . . OR6C75 12 55365111 55366049 N . N N 0.593178019 83.91503154 0.048477564 47.2 . . OR6C76 12 55426254 55427192 N . N N 0.155126864 61.40533657 0.001021771 64.6 . . OR6F1 1 247711829 247712755 N . N N 0.624147457 84.88742258 0.000152779 70.6 . . OR6J1 14 22633768 22634811 N . N N . . 0.406852694 32.6 . . OR6K2 1 158699678 158700652 N . N N 1.173011897 94.76761012 6.63E-05 73.1 . . OR6K3 1 158717168 158718163 N . N N 0.626060077 84.945303 0.006906368 56.7 . . OR6K6 1 158754720 158755891 N . N N 0.688955753 86.6296232 0.010483104 54.7 . . OR6M1 11 123805335 123806387 N . N N 0.156083554 61.48058112 0.001963648 61.9 . . OR6N1 1 158765744 158766682 N . N N 1.067001612 93.59842565 0.00123986 63.8 . . OR6N2 1 158776682 158777635 N . N N 0.677627004 86.34600915 0.023439916 50.8 . . OR6P1 1 158562651 158563604 N . N N . . . . . . OR6Q1 11 58030953 58031906 N . N N 1.080097034 93.73733866 0.004863354 58.2 FTV . OR6S1 14 20640696 20641691 N . N N 0.58391 83.64878162 0.000222105 69.5 . . OR6T1 11 123942785 123943873 N . N N 0.764945783 88.45864444 7.96E-05 72.6 . . OR6V1 7 143052320 143053347 N . N N 1.040666104 93.26850726 0.07647453 44.7 . . OR6X1 11 123753488 123754545 N . N N 0.979680151 92.48712161 0.000346596 68.2 . . OR6Y1 1 158547128 158548105 N . N N 1.567059419 97.30856051 0.017981897 52.2 DP . OR7A10 19 14840948 14841877 N . N N 1.119528403 94.17722984 0.007992982 55.9 . . OR7A17 19 14880426 14881452 N . N N 0.421560678 76.91728888 0.000117083 71.4 . . OR7A5 19 14792490 14835376 N . N N 0.859622035 90.36291023 0.001397169 63.4 . . OR7C1 19 14799146 14800211 N . N N 0.730150671 87.57886207 0.22002709 38 . . OR7C2 19 14941489 14942448 N . N N 0.322107219 71.89326851 0.042449032 48 . . OR7D2 19 9185594 9188817 N . N N 0.383088549 75.0824796 0.092527122 43.6 . . OR7D4 19 9213850 9214871 N . N N 0.763033015 88.39497598 8.94E-06 78.3 FP . OR7E24 19 9250930 9252479 N . N N 0.580084093 83.4809284 0.298717571 35.8 . . OR7G1 19 9114828 9115763 N . N N 0.769580165 88.55704115 0.075716676 44.7 . . OR7G2 19 9102269 9103306 N . N N 0.186095639 63.59900446 0.007093766 56.5 . . OR7G3 19 9126012 9126950 N . N N 0.906555705 91.21375239 0.4059637 32.6 . . OR8A1 11 124569997 124571142 N . N Y 0.284591847 69.63014412 0.058828646 46.1 . . OR8B12 11 124542682 124543679 N . N N 0.488132675 80.00231522 0.178075256 39.4 . . OR8B2 11 124382395 124383362 N . N N 0.673949128 86.2707646 0.20571284 38.6 . . OR8B3 11 124396382 124397368 N . N N 0.823060612 89.60467674 0.618283248 27 . . OR8B4 11 124423942 124424871 N . N N 0.153213524 61.2432714 0.707743835 24.4 . . OR8B8 11 124440126 124441158 N . N N 0.520058292 81.25832031 0.005555205 57.6 . . OR8D1 11 124309812 124310837 N . N N 1.329642021 95.98888696 0.215921299 38.2 . . OR8D2 11 124319262 124320197 N . N N 0.449660369 78.35272327 0.616576837 27 . . OR8D4 11 123906146 123907476 N . N N 1.202071758 95.03386005 0.050486338 46.9 . . OR8G1 11 124249676 124250611 N . N N . . 0.285950159 36.1 . . OR8G5 11 124264827 124265867 N . N N . . 0.652742659 26 . . OR8H1 11 56290053 56291090 N . N N 0.79304674 89.03744863 1.47E-05 77.1 DM? . OR8H2 11 56105018 56106055 N . N N 1.735034062 98.00312554 0.000858972 65.3 . . OR8H3 11 56122373 56123311 N . N N 0.667402358 86.14921572 7.95E-07 83 . . OR8I2 11 56093308 56094240 N . N N 0.597959909 84.04815651 0.000129181 71.1 . . OR8J1 11 56360215 56361288 N . N N 1.021979115 93.07171384 4.47E-06 79.8 . . OR8J3 11 56136771 56137718 N . N N 0.392504758 75.48764253 0.065557023 45.5 . . OR8K1 11 56346039 56346998 N . N N 1.300580966 95.80366962 0.002039164 61.8 . . OR8K3 11 56318307 56319245 N . N N 0.073550514 55.19476761 4.46E-06 79.8 DM? . OR8K5 11 56159394 56160317 N . N N 0.421560678 76.91728888 4.11E-07 84 . . OR8S1 12 48507354 48529897 N . N N 0.916928187 91.44527406 3.08E-06 80.5 . . OR8U1 11 56375624 56376553 N . N N 4.017306477 99.78584245 0.013454141 53.7 . . OR9A2 7 143026158 143027195 N . N N 0.426194468 77.17775077 8.86E-05 72.3 . . OR9A4 7 141918817 141919909 N . N N 0.460032897 78.82155467 0.000344415 68.2 . . OR9G1 11 56700388 56701305 N . N N 2.638942044 99.25334259 0.000995316 64.7 . . OR9G4 11 56742827 56743811 N . N N 0.531387625 81.71557562 0.000306988 68.6 . . OR9I1 11 58118500 58119444 N . N N 0.755529606 88.24448689 0.612331301 27.1 . . OR9K2 12 55129681 55130802 N . N N 0.802462863 89.1995138 9.75E-05 72 . . OR9Q1 11 58023881 58181616 N . N N 0.580084093 83.4809284 0.008594897 55.5 . . OR9Q2 11 58190434 58191518 N . N N 0.043538553 52.85061064 1.30E-07 85.8 . . ORAI2 7 102433106 102456821 N . N N -0.250187888 32.45355096 0.336548284 34.7 . . ORAI3 16 30949066 30956461 N . N N -0.391788739 24.87121607 0.01095069 54.5 . . ORAOV1 11 69653076 69675416 N . N N 0.003958565 49.8061006 0.032990257 49.2 . . ORC2 2 200908973 200963680 N . N N -0.439524773 22.76436881 0.971869811 12.8 . . ORC4 2 147930397 148021604 N . N Y -0.176918638 36.94507148 2.29E-06 81.1 DM Meier-Gorlin syndrome 2, 613800 (3) ORC5 7 104126341 104208047 N . N N -0.36162327 26.26034612 2.29E-05 75.9 . . ORC6 16 46689643 46698394 N . N N -0.007220243 48.88580193 0.000734226 65.8 DM Meier-Gorlin syndrome 3, 613803 (3) ORM1 9 114323056 114326475 N . N N 0.744201416 87.96666088 0.132357511 41.5 . . ORM2 9 114329869 114333252 N . N N 1.032206482 93.17589859 0.005043484 58.1 . . ORMDL1 2 189770323 189784371 N . N N -0.141470476 39.31238062 0.0758239 44.7 . . ORMDL2 12 55817919 55821879 N . N N 0.239424197 66.81136771 0.150868778 40.6 . . ORMDL3 17 39921041 39927601 N . N N -0.155519548 38.35156567 0.721819207 24 DFP . OSBP 11 59574398 59616144 N . N N -0.947030043 8.757307403 0.999542555 5.1 . . OSBP2 22 30693782 30907824 N . N Y 0.265256787 68.39150315 0.036148744 48.8 . . OSBPL10 3 31657890 32077580 N . N N -1.117551885 6.389998264 0.000141846 70.8 . . OSBPL11 3 125528858 125595090 N . N N -0.829692794 10.98570354 0.898599332 17.8 . . OSBPL1A 18 24162044 24397880 N . N N -0.622170946 16.11969671 4.11E-05 74.4 . . OSBPL2 20 62231922 62296213 N . N N -0.240617998 33.02077907 0.504911841 29.8 . Deafness, autosomal dominant 67, 616340 (3) OSBPL3 7 24796539 24981634 N . N N -1.065838318 6.98616658 0.00266193 60.8 . . OSBPL5 11 3087116 3166739 N . N N -0.261869862 31.70689356 0.000848898 65.3 . . OSBPL6 2 178194481 178402891 N . N N -1.441186873 3.721710945 0.999012304 5.9 . . OSBPL7 17 47807372 47821834 N . N N -0.645637133 15.52352839 0.18160538 39.3 . . OSBPL8 12 76351797 76559809 N . N N -0.69830864 13.97233316 0.988348146 10.3 . . OSBPL9 1 51577179 51798427 N . N N -0.488218838 20.65752156 0.998515313 6.5 . . OSCAR 19 54094668 54102692 N . N Y . . 0.632157857 26.6 . . OSCP1 1 36415827 36450451 N . N N -0.326978896 27.91572611 0.000148147 70.7 . . OSER1 20 44196496 44210791 N . N N -0.112262427 41.3266192 0.008728888 55.5 . . OSGEP 14 20446411 20455105 N . N N 0.041624995 52.67118134 1.80E-05 76.5 . . OSGEPL1 2 189746660 189763227 N . N N -0.338310159 27.33692192 0.000202434 69.8 . . OSGIN1 16 83948282 83966332 N . N N 0.216410569 65.43960178 0.016050625 52.8 DM? . OSGIN2 8 89901859 89927888 N . N N -0.441438866 22.67176014 0.988642484 10.2 . . OSM 22 30262829 30266840 N Viable N Y 0.472169912 79.41193494 0.397920808 32.8 . . OSMR 5 38845858 38945596 N . N Y 0.581500882 83.53880882 3.10E-11 93.7 DM Amyloidosis, primary localized cutaneous, 1, 105250 (3) OST4 2 27070472 27071773 N . N N . . . . . . OSTC 4 108650584 108667820 N . N N 0.06302642 54.36707762 0.608151849 27.2 . . OSTF1 9 75088543 75147265 N . N N 0.141883914 60.31139665 0.666040393 25.6 . . OSTN 3 191199241 191265615 N . N N 0.154976897 61.35903224 0.085856051 44 . . OTOA 16 21678514 21760729 N Viable N Y -0.437311627 22.88012965 4.16E-08 87.2 DM Deafness, autosomal recessive 22, 607039 (3) OTOF 2 26457203 26558698 N . N Y 0.488200966 80.00810326 4.33E-25 99.3 DM Deafness, autosomal recessive 9, 601071 (3); Auditory neuropathy, autosomal recessive, 1, 601071 (3) OTOG 11 17547373 17647150 N . N Y . . . . DM Deafness, autosomal recessive 18B, 614945 (3) OTOGL 12 80209453 80379090 N . N N . . 3.73E-31 99.7 DM Deafness, autosomal recessive 84B, 614944 (3) OTOL1 3 161496808 161503942 N . N N 0.58199694 83.58511316 1.72E-07 85.4 . . OTOP1 4 4188803 4226889 N . N Y 0.746415105 88.01296521 7.31E-16 97.4 . . OTOP2 17 74924275 74933912 N . N N -0.246056484 32.69086068 3.08E-09 90.1 . . OTOP3 17 74935719 74949992 N . N Y 1.591794299 97.43589744 9.57E-06 78.2 . . OTOR 20 16748358 16770062 N . N N 0.24597088 67.24547086 0.014821336 53.2 DP . OTOS 2 240139026 240144562 N . N Y 0.351015356 73.42131157 2.79E-07 84.7 . . OTUB2 14 94026329 94048930 N . N Y 0.190728755 63.83052613 9.31E-06 78.2 . . OTUD1 10 23439458 23442390 N . N N . . . . . . OTUD3 1 19882513 19912945 N . N N 0.237660296 66.68403079 2.63E-05 75.5 . . OTUD4 4 145110838 145180161 N . N N -0.028318057 47.40406321 0.999916478 3.7 DM . OTUD5 X 48922028 48958386 N . N Y -0.186488904 36.36626729 0.976548569 12.2 . . OTUD6A X 70062491 70064179 N Viable N Y 0.488942276 80.04283151 0.573824004 28.2 . . OTUD7A 15 31475398 31870789 N . N N -0.485348588 20.73855415 0.974595441 12.5 . . OTUD7B 1 149937812 150010676 N . N Y -1.318250346 4.584129189 0.100123441 43.1 . . OVCA2 17 2041936 2043430 N . N N 0.006828994 50.02025815 3.95E-05 74.6 . . OVCH1 12 29412474 29497686 N . N N . . 1.53E-28 99.6 . . OVCH2 11 7689438 7706421 N . N N . . 7.83E-14 96.2 FTV . OVGP1 1 111414314 111427777 N Viable N Y 1.006319643 92.83440412 0.000935884 65 DP . OVOL3 19 36111151 36113711 N . N N . . . . . . OVOS2 12 31111652 31206154 N . N N . . . . . . OXA1L 14 22766522 22773041 N . N N 0.31953887 71.74856746 5.96E-09 89.4 . . OXCT2 1 39769523 39771348 N . N N . . . . . . OXER1 2 42762481 42764261 N . N N 1.9068434 98.40250043 4.77E-07 83.8 . . OXGR1 13 96985719 96994730 N . N Y -0.048410911 45.9396886 0.000863936 65.3 . . OXLD1 17 81665036 81666635 N . N N 0.982405668 92.53342594 0.041423225 48.1 . . OXNAD1 3 16265160 16350299 N . N N 1.12703228 94.27562656 2.37E-05 75.8 . . OXR1 8 106270178 106752694 N . N Y -1.020958787 7.611275106 0.48853443 30.3 . . OXSM 3 25782917 25794534 N . N N -0.86449177 10.29113851 0.003306417 59.9 . . OXT 20 3071620 3072517 N . N Y 0.039560397 52.53226833 0.62795746 26.7 . . OXTR 3 8750408 8769628 N Viable N Y -0.121527027 40.6494183 5.74E-05 73.5 DFP . P2RX1 17 3896592 3916500 N . N Y -0.190010792 36.18104995 6.47E-08 86.7 DM Bleeding disorder due to P2RX1 defect, somatic, 609821 (3) P2RX2 12 132618780 132622386 N . N Y 0.315711326 71.46495341 9.69E-12 94.3 DM Deafness, autosomal dominant 41, 608224 (3) P2RX3 11 57338374 57370600 N . N Y 0.134531237 59.82520113 0.011497581 54.3 . . P2RX4 12 121209857 121234106 N Viable N Y -0.121527027 40.6494183 2.37E-09 90.3 DFP . P2RX5 17 3672199 3696404 N . N Y 0.338220438 72.790415 1.83E-05 76.5 DM . P2RX5-TAX1BP3 17 3663063 3696194 N . N N . . . . . . P2RX6 22 21009808 21028830 N Viable N Y 0.521971277 81.33356486 1.88E-07 85.2 . . P2RX7 12 121132819 121188032 N Viable N Y 1.116001895 94.14250159 3.79E-06 80.1 DFP . P2RY1 3 152834693 152841439 N . N Y -0.284831791 30.36985588 0.581732804 27.9 . . P2RY10 X 78945332 78961954 N . N N -0.183617621 36.51675638 0.690389562 24.9 . . P2RY11 19 10111538 10115372 N . N N 1.354369391 96.13358801 9.08E-08 86.2 DP . P2RY12 3 151337380 151384812 N . N Y -0.285788866 30.29461133 0.107032258 42.7 DM Bleeding disorder, platelet-type, 8, 609821 (3) P2RY13 3 151326312 151329548 N . N Y 0.055674233 53.76512126 0.327928324 34.9 . . P2RY14 3 151212117 151278467 N . N Y 0.300554575 70.56201887 0.000377084 68 . . P2RY2 11 73218298 73236352 N . N Y 0.161823975 61.9204723 0.070471984 45 . . P2RY6 11 73264505 73298617 N . N Y -0.144992854 39.06349482 4.64E-07 83.9 . . P2RY8 X 1462572 1537107 N . N N -0.306383832 29.09069862 0.012844117 53.9 . . P3H1 1 42746335 42767084 N . N Y . . . . . Osteogenesis imperfecta, type VIII, 610915 (3) P3H3 12 6828410 6839851 N Viable N Y . . . . . . P3H4 17 41801947 41812604 N . N N . . . . . . P4HA2 5 132191838 132295315 N . N N -0.328740556 27.78838919 6.46E-05 73.2 . . P4HA3 11 74235801 74311657 N . N N 0.298791665 70.43468195 1.60E-07 85.5 . . P4HTM 3 48989886 49007154 N . N Y -0.11115351 41.40186375 0.023274936 50.9 . . PA2G4 12 56104319 56113907 N . N Y -0.056065882 45.38982462 0.998000991 6.9 . . PAAF1 11 73876699 73931124 N . N N 0.118568504 58.65022863 1.03E-06 82.5 . . PABPC1 8 100685816 100722809 N . N N 2.724247112 99.32858714 0.999692443 4.7 FTV . PABPC1L 20 44910062 44959035 N . N Y 0.408618533 76.28060427 0.99334975 9.1 . . PABPC1L2A X 73077276 73079512 N . N N . . 0.343427414 34.4 . . PABPC1L2B X 73003517 73005713 N . N N . . . . . . PABPC3 13 25095868 25099254 N . N N 3.703871957 99.7105979 3.37E-11 93.6 . . PABPC4 1 39560816 39576790 N . N Y -1.550220513 3.085026336 0.992493064 9.3 . . PABPC4L 4 134196333 134201748 N . N N . . 0.220668248 38 DM . PABPC5 X 91434595 91438584 N . N N -0.220175737 34.30572437 0.362703123 33.8 . . PABPN1 14 23321289 23326185 N . N N -0.019507464 47.94813914 0.599824569 27.5 DM Oculopharyngeal muscular dystrophy, 164300 (3) PABPN1L 16 88863333 88866660 N . N Y . . 2.65E-11 93.7 . . PACRG 6 162727132 163315492 N . N N 0.038754674 52.485964 0.000104677 71.7 DM? . PACRGL 4 20696282 20752907 N . N N 0.257299872 67.86479134 9.14E-08 86.2 . . PACS1 11 66070363 66244747 N . N N -1.129837298 6.274237425 0.999906352 3.7 DM Mental retardation, autosomal dominant 17, 615009 (3) PACS2 14 105300563 105398147 N . N Y -0.868829287 10.221682 0.999324515 5.5 . . PACSIN1 6 34466061 34535231 N . N Y -0.255776741 32.13520866 0.991339222 9.6 . . PACSIN3 11 47177525 47186443 N . N Y -0.01265806 48.49800313 0.016793048 52.5 . . PADI1 1 17205126 17246005 N . N N 0.583258584 83.62562945 5.27E-11 93.3 . . PADI3 1 17249098 17284233 N . N N 2.147342454 98.77872316 4.69E-10 91.8 . . PADI6 1 17372196 17401699 N . N Y . . . . . . PAEP 9 135561756 135566955 N . N N 0.472979635 79.42351103 0.031618374 49.4 . . PAF1 19 39385852 39391195 N . N N -0.174047919 37.14186491 0.84547263 20.1 . . PAFAH1B2 11 117144267 117176894 N . N Y -0.193034849 35.95531632 0.962029472 13.8 . . PAFAH1B3 19 42297033 42303546 N . N Y -0.349641992 26.83336227 0.021057918 51.3 DM . PAFAH2 1 25959767 25998157 N . N Y 0.478865545 79.695549 2.69E-07 84.7 . . PAG1 8 80967810 81112068 N . N Y -0.508009746 19.8761359 0.010837278 54.6 . . PAGE1 X 49687450 49695993 N . N N 0.282530296 69.45650287 0.389289496 33 . . PAGE2 X 55089008 55092842 N . N N 0.48703021 79.96758697 0.201620359 38.7 . . PAGE2B X 55075063 55078909 N . N N 0.326593235 72.13057823 0.203304959 38.7 . . PAGE3 X 55258412 55264846 N . N N . . 0.050523543 46.9 . . PAGE4 X 49829260 49833973 N . N N 0.295624092 70.22631244 0.648195518 26.1 . . PAGE5 X 55089045 55288785 N . N N 0.440098343 77.88389188 0.071254313 45 . . PAH 12 102836885 102958410 N . N N 0.011764461 50.40805695 1.20E-10 92.9 DM Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild], 261600 (3) PAICS 4 56435741 56464579 N . N N 0.68226197 86.49071019 0.068314123 45.2 . . PAIP1 5 43526267 43557758 N . N N -0.315801021 28.52347051 0.994278972 8.7 . . PAIP2 5 139341587 139369720 N . N Y -0.014874933 48.27805753 0.79947261 21.7 . . PAIP2B 2 71182739 71227083 N . N N 0.403538004 75.98541413 0.0917531 43.7 . . PAK1 11 77321707 77474635 N Viable N Y -0.695744556 14.07072987 0.670970123 25.5 . . PAK3 X 110944285 111227361 N . N Y -0.199580796 35.52700122 0.987004717 10.6 DM Mental retardation, X-linked 30/47, 300558 (3) PAK6 15 40217428 40277486 N . N Y 0.054215218 53.65514846 0.001281791 63.7 . . PAK7 20 9537389 9839041 N . N Y -0.475932167 21.19002142 0.998363567 6.6 DM? . PALD1 10 70478821 70568449 N . N N 0.334854126 72.5415292 0.000887741 65.2 . . PALM 19 708939 748329 N . N N 0.24898988 67.40753603 0.393531039 32.9 . . PALM2 9 109640788 109946703 N . N N 0.173002985 62.75973838 0.003893171 59.2 . . PALM2-AKAP2 9 109780309 110172512 N . N N 0.72805897 87.54413382 0.066517954 45.4 . . PALM3 19 14053365 14059159 N . N N . . . . . . PALMD 1 99645943 99694541 N . N N 0.07178822 55.02691439 0.03695201 48.7 . . PAMR1 11 35431823 35530300 N . N N 0.212735582 65.23123227 4.63E-21 98.9 . . PAN2 12 56316223 56334053 Y Viable N Y -0.732809632 13.07518666 0.946674807 15.1 . . PAN3 13 28138506 28295335 N . N N -1.155218948 6.031139665 0.999989677 2.6 . . PANK1 10 89579497 89645572 N . N Y -0.319475863 28.315101 0.00212215 61.7 . . PANK3 5 168548495 168579600 N . N N 0.036841134 52.32389883 0.000282413 68.8 . . PANK4 1 2508533 2526628 N . N N -1.260127918 5.052960583 0.945333402 15.2 . . PANO1 11 797511 799190 N . N N . . . . . . PANX1 11 94128928 94181972 N Viable N Y -0.391635495 24.88858019 0.003095496 60.2 . . PANX2 22 50170731 50180294 N Viable N Y -0.64402392 15.57562077 0.014900767 53.2 . . PANX3 11 124611490 124620356 N Viable N Y 0.462902626 78.98361984 0.001881242 62.1 . . PAOX 10 133379234 133391694 N . N N 0.196620018 64.18938473 0.000435556 67.5 . . PAPD4 5 79612120 79686648 N . N Y -0.069963016 44.41743358 0.00095687 64.9 . . PAPD5 16 50152918 50235310 N . N N -0.287703102 30.21357875 0.998506441 6.5 . . PAPD7 5 6713007 6757048 N . N N -0.854116945 10.49371997 0.998369134 6.6 DP . PAPL 19 39083913 39111493 N . N N 0.382281971 75.03617526 5.71E-06 79.3 . . PAPLN 14 73237497 73274640 N . N N 3.194567266 99.60641315 5.13E-22 99 . . PAPOLA 14 96501433 96567111 N . N N -0.599961813 16.71007698 0.99997169 3 . . PAPOLB 7 4857733 4861994 N . N Y . . 0.03717918 48.7 . . PAPOLG 2 60756230 60802085 N . N N -1.231214826 5.296058343 0.989888395 10 . . PAPPA 9 116153804 116402322 N . N Y -0.932276399 8.994617121 0.967751417 13.3 . . PAPPA2 1 176463171 176845605 N . N Y -0.5839644 17.265729 0.001250054 63.8 . . PAPSS1 4 107590276 107720452 N . N N -0.306231452 29.11385078 2.62E-06 80.7 . . PAPSS2 10 87659613 87747705 N . N N -0.688892092 14.23858309 2.50E-07 84.8 DM Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) PAQR3 4 78887127 78939438 N . N Y -0.808294265 11.39665451 0.020391704 51.6 . . PAQR4 16 2969245 2973489 N . N N -0.129986883 40.1111304 6.76E-05 73 . . PAQR5 15 69298947 69407780 N . N N -0.163826529 37.7901256 0.153782977 40.4 . . PAQR6 1 156243321 156248117 N Viable N Y 0.287461744 69.74011692 0.000721604 65.9 . . PAQR7 1 25861210 25871253 N . N N 0.218021088 65.55536262 0.009310768 55.2 . . PAQR8 6 52361421 52407777 N . N N -0.640349555 15.66822944 0.177868817 39.4 . . PAQR9 3 142949164 142963682 N . N N -0.801748514 11.52399143 0.800794307 21.6 . . PARD3B 2 204545793 205620162 N Viable N Y 0.270355413 68.70405742 8.65E-08 86.3 DP . PARD6A 16 67660946 67662778 N . N N -0.216347583 34.5025178 0.854734701 19.7 DFP . PARD6B 20 50731544 50756795 N . N N -0.179789518 36.75985414 0.807577375 21.3 . . PARD6G 18 80157232 80247546 N . N N -0.31116943 28.88232911 0.11193541 42.5 . . PARK2 6 161347420 162727771 N . N Y 0.91612174 91.41633385 0.021808832 51.2 DM Parkinson disease, juvenile, type 2, 600116 (3); Adenocarcinoma of lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3) PARK7 1 7954291 7985505 N . N Y 0.13438084 59.79626092 0.903949397 17.6 DM Parkinson disease 7, autosomal recessive early-onset, 606324 (3) PARL 3 183829385 183884933 N . N Y 0.111065501 58.08300052 1.07E-05 77.9 DM . PARM1 4 74933095 75050115 N . N N 0.450616788 78.37587544 0.006063363 57.2 . . PARN 16 14435701 14632728 N . N N -0.134619278 39.77542397 0.387183623 33.1 . Dyskeratosis congenita, autosomal recessive 6, 616353 (3); Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3) PARP10 8 143977153 144012772 N . N Y 0.440855794 77.91862013 0.002911316 60.5 . . PARP11 12 3791047 3873448 N Viable N Y -0.847726506 10.60948081 0.000159466 70.5 . . PARP12 7 140023744 140063721 N Viable N Y -0.081946999 43.43346646 7.93E-06 78.6 . . PARP14 3 122680618 122730840 N . N N -1.451169671 3.663830526 0.01296069 53.9 . . PARP15 3 122577602 122639047 N . N N 0.654309067 85.76720495 2.71E-07 84.7 . . PARP16 15 65234460 65300618 N Viable N Y 0.118568504 58.65022863 1.93E-08 88.2 . . PARP2 14 20343582 20357905 N . N Y 0.188160176 63.68003704 2.10E-07 85.1 FP . PARP3 3 51942345 51948867 N . N N 1.250113981 95.42744689 1.49E-08 88.5 . . PARP4 13 24420926 24512810 N . N Y 3.104974511 99.57747294 2.13E-20 98.8 . . PARP6 15 72241181 72272999 N . N N -0.993965971 7.95855762 0.997418878 7.3 . . PARP8 5 50665899 50846522 N Viable N Y -0.822040307 11.13619263 0.119242934 42.1 . . PARP9 3 122527924 122564577 N . N N 0.019418972 51.05052961 5.14E-06 79.5 . . PARPBP 12 102120185 102197520 N . N N 0.041776336 52.69433351 9.67E-13 95.3 . . PARS2 1 54756898 54764514 N . N N -0.127116299 40.27319558 0.701898 24.6 . . PARVB 22 43999211 44172949 N . N Y 0.374778905 74.66574058 1.17E-12 95.2 . . PARVG 22 44172956 44219533 N . N Y 0.642023041 85.42571048 0.01202245 54.2 . . PASD1 X 151563622 151676739 N . N N 0.87014387 90.60021995 0.897076709 17.9 . . PASK 2 241106099 241150264 N . N Y -0.146818404 38.94773398 9.06E-20 98.6 DM . PATE1 11 125746293 125749867 N . N N 0.139970692 60.17827169 7.59E-08 86.5 . . PATE2 11 125776113 125778819 N Viable N Y 0.093995484 56.69387046 3.37E-05 74.9 . . PATE3 11 125788111 125791600 N . N N . . . . . . PATE4 11 125833316 125840069 N . N N . . . . . . PATL2 15 44665732 44711316 N . N Y . . 0.067710089 45.2 . . PAXBP1 21 32733899 32771858 N . N N -1.326854117 4.503096602 0.999970426 3 . . PBDC1 X 76172936 76178204 N . N N 0.237511303 66.66087862 0.845464415 20.1 . . PBK 8 27809620 27838095 N . N Y 0.055674233 53.76512126 4.09E-05 74.4 . . PBLD 10 68282660 68333049 N . N N -0.163826529 37.7901256 2.82E-05 75.3 . . PBOV1 6 138215986 138218491 N . N N 0.768480455 88.5223129 0.007572397 56.2 . . PBX2 6 32184741 32190186 N . N Y 0.139164133 60.1377554 0.889707316 18.2 . . PBX4 19 19561707 19618916 N . N N 0.354032699 73.67598541 0.006772126 56.7 DM? . PBXIP1 1 154944076 154956123 N . N N 0.677928319 86.36337327 5.80E-07 83.5 . . PCBD1 10 70882280 70888784 N . N Y 0.115548149 58.40713087 0.001094413 64.4 DM Hyperphenylalaninemia, BH4-deficient, D, 264070 (3) PCBD2 5 134904906 135007959 N . N N -0.052390454 45.59819413 0.003062596 60.3 . . PCBP1 2 70087454 70089203 N . N N -0.719211967 13.43404526 0.727131612 23.8 . . PCBP2 12 53452102 53481162 N . N N -0.510079547 19.80089136 0.98703033 10.6 . . PCBP3 21 45643694 45942454 N . N N -0.346770353 26.9201829 0.980315405 11.7 . . PCBP4 3 51957454 51974016 N . N N -0.569949107 17.64195173 0.233370936 37.6 . . PCCB 3 136250306 136337896 N . N N 0.134682454 59.83098918 0.000735839 65.8 DM Propionicacidemia, 606054 (3) PCDH1 5 141853111 141879246 N . N N -1.789026577 2.228396134 0.87319544 18.9 . . PCDH11X X 91779261 92623230 N . N N -1.01713429 7.669155525 0.925742125 16.3 DM . PCDH11Y Y 5000226 5742224 N . N N . . 0.036368643 48.8 . . PCDH12 5 141943585 141969741 N . N Y 0.456979998 78.63054929 1.29E-10 92.8 . . PCDH15 10 53802771 55627942 N . N N 0.396826589 75.65549575 7.23E-11 93.2 DM Usher syndrome, type 1F, 602083 (3); Deafness, autosomal recessive 23, 609533 (3); Usher syndrome, type 1D/F digenic, 601067 (3) PCDH17 13 57631810 57729311 N . N Y -1.611755813 2.79562424 0.960498313 13.9 . . PCDH18 4 137518918 137532494 N Viable N Y -1.32930757 4.485732477 0.000442525 67.4 DM? . PCDH19 X 100291644 100410273 N . N N -0.838003561 10.8004862 0.977158513 12.2 DM Epileptic encephalopathy, early infantile, 9, 300088 (3) PCDH20 13 61409858 61427849 N . N N -0.72721813 13.21409967 0.881149073 18.6 . . PCDH7 4 30720415 31146805 N . N N -1.537659433 3.16027088 . . . . PCDH8 13 52842889 52848641 N . N Y 0.077529154 55.49574579 . . . . PCDH9 13 66302834 67230445 N . N N -1.265584424 4.995080164 0.973014277 12.7 . . PCDHA1 5 140786136 141012347 N . N Y -0.280407152 30.6071656 0.000559475 66.7 . . PCDHA10 5 140855883 141012344 N . N N 1.055508626 93.43636048 4.18E-11 93.5 DM . PCDHA11 5 140868183 141012344 N . N N -0.337566281 27.36586213 3.59E-10 92 . . PCDHA12 5 140875302 141012344 N . N N 0.426008805 77.13144643 3.52E-10 92.1 . . PCDHA13 5 140882208 141012344 N . N N -0.402373043 24.23453146 4.29E-11 93.5 DM? . PCDHA2 5 140794852 141012344 N . N N -0.422016068 23.44156972 1.99E-09 90.5 . . PCDHA3 5 140801028 141012344 N . N N -0.938000956 8.896220409 1.46E-13 96 DM? . PCDHA4 5 140806929 141012344 N . N N 1.154978029 94.54766453 2.88E-15 97 . . PCDHA5 5 140821604 141012344 N . N N 0.325593163 72.06112172 0.003538248 59.6 . . PCDHA6 5 140827958 141012344 N . N N -0.616154782 16.29912601 6.16E-08 86.7 . . PCDHA7 5 140834248 141012344 N . N N -1.054379856 7.159807837 0.000137152 70.9 . . PCDHA8 5 140841187 141012344 N . N N 1.006822015 92.84019216 3.70E-10 92 . . PCDHA9 5 140847463 141012344 N . N N 1.961035932 98.51826127 7.89E-14 96.2 . . PCDHAC1 5 140926369 141012344 N . N Y 0.222307202 65.74057996 4.58E-09 89.7 . . PCDHAC2 5 140966235 141012344 N . N Y -0.791881927 11.72078486 0.916966112 16.9 . . PCDHB1 5 141051135 141059344 N . N N 0.186398556 63.6047925 2.81E-08 87.7 . . PCDHB10 5 141187319 141195642 N . N N 2.799072067 99.38067952 1.18E-06 82.3 . . PCDHB11 5 141199582 141203779 N . N N 0.074158512 55.20055565 3.09E-07 84.5 . . PCDHB12 5 141208697 141212571 N . N N 0.569529665 83.02946113 0.000155402 70.6 . . PCDHB13 5 141213919 141218979 N . N N 0.270198172 68.69826938 1.69E-09 90.7 . . PCDHB14 5 141222932 141227759 N . N N 0.459693288 78.78682642 9.06E-09 89 . . PCDHB15 5 141245349 141249365 N . N N 1.494405795 96.95548996 0.006800825 56.7 . . PCDHB16 5 141181399 141186399 N . N N 0.245773915 67.20495456 0.001770815 62.4 DM? . PCDHB2 5 141094578 141098703 N . N N 0.551488074 82.50274932 . . . . PCDHB3 5 141100473 141152636 N . N N -0.084515628 43.23088499 . . . . PCDHB4 5 141121799 141125623 N . N N 0.491462634 80.13544018 . . DM? . PCDHB5 5 141135218 141138625 N . N N -0.00470073 49.08259536 9.45E-07 82.6 . . PCDHB6 5 141150022 141153287 N . N N 1.63987067 97.69057128 0.001726641 62.5 . . PCDHB7 5 141172619 141176383 N . N N 1.210386576 95.12646872 1.30E-15 97.2 . . PCDHB8 5 141177790 141180529 N . N N 1.27522369 95.58951207 4.80E-08 87 . . PCDHB9 5 141187127 141191541 N . N N . . . . . . PCDHGA1 5 141330571 141512981 N . N Y 0.161325015 61.85680384 0.000268174 69 . . PCDHGA10 5 141412987 141512979 N . N N 0.323521426 71.96851305 5.44E-06 79.4 FTV . PCDHGA11 5 141421047 141512979 N . N N 0.469910793 79.31353823 4.55E-05 74.2 FTV . PCDHGA12 5 141430589 141512979 N . N N -0.271137911 31.19175783 0.000727679 65.8 . . PCDHGA2 5 141338760 141512979 N . N N 0.171699713 62.63240146 8.23E-07 82.9 . . PCDHGA3 5 141343829 141512979 N . N N -0.313288815 28.65080743 0.000592397 66.5 . . PCDHGA4 5 141355025 141512979 N . N N . . 5.96E-07 83.4 . . PCDHGA5 5 141364232 141512979 N . N N -0.602241252 16.64062048 0.000468775 67.2 . . PCDHGA6 5 141373914 141512979 N . N N -0.257897165 32.00787174 8.20E-07 82.9 . . PCDHGA7 5 141382739 141512979 N . N N 0.526264404 81.47247786 5.28E-06 79.4 . . PCDHGA8 5 141390157 141512979 N . N N 0.404297615 76.02014239 9.45E-09 89 . . PCDHGA9 5 141402932 141512979 N . N N 1.014943104 92.93858888 3.68E-05 74.7 . . PCDHGB1 5 141350102 141512979 N . N N -0.063769252 44.84574868 0.168083945 39.8 . . PCDHGB2 5 141360042 141512979 N . N N -0.318069754 28.39034555 3.54E-07 84.3 . . PCDHGB3 5 141370264 141512979 N . N N 0.503754723 80.58690745 0.000624135 66.3 . . PCDHGB4 5 141387698 141512979 N . N N 0.169631488 62.47033629 0.002561316 61 . . PCDHGB5 5 141397987 141512979 N . N N . . . . . . PCDHGB6 5 141408021 141512979 N . N N -0.054503261 45.48243329 6.47E-05 73.2 . . PCDHGB7 5 141417645 141512979 N . N N 0.565536764 82.89054813 0.016070626 52.8 . . PCDHGC3 5 141475947 141512979 N . N N -0.944821741 8.797823696 0.705736989 24.5 . . PCDHGC4 5 141484997 141512979 N . N N -0.849186025 10.55160039 0.936149575 15.8 . . PCDHGC5 5 141489121 141512979 N . N N -0.998303674 7.889101117 2.85E-05 75.3 . . PCED1A 20 2835314 2841190 N Viable N Y -0.212519778 34.79191989 0.016026707 52.8 . . PCED1B 12 47079603 47236662 N . N N -0.447027861 22.42866238 0.008266127 55.7 . . PCF11 11 83156988 83187451 N . N N -1.193273293 5.6491289 0.999999874 1.2 . . PCGF1 2 74505043 74508580 N . N N 0.026467762 51.52514904 0.987060431 10.6 . . PCGF3 4 705748 770640 N . N N -0.047605945 46.02072119 0.943399927 15.4 . . PCGF5 10 91163012 91284331 N . N N 0.162480005 61.94941251 0.996021946 8 . . PCGF6 10 103302796 103351134 N . N N 0.074356355 55.24107195 0.000251716 69.1 . . PCID2 13 113177539 113208715 N . N N -0.205973698 35.14499045 6.37E-09 89.4 . . PCIF1 20 45934628 45948023 N . N N -0.612902778 16.4090988 0.999961616 3.1 . . PCK2 14 24094053 24110598 N . N N 1.357243904 96.15674017 2.19E-17 97.9 . PEPCK deficiency, mitochondrial, 261650 (1) PCLO 7 82754013 83162930 N . N Y -3.071974657 0.590380274 1 0.3 . ?Pontocerebellar hypoplasia, type 3, 608027 (3) PCM1 8 17922840 18029944 N . N N 0.844401901 90.10244834 . . DM . PCMT1 6 149749443 149811420 N . N Y 0.481438994 79.79973375 0.446383566 31.5 FP . PCMTD1 8 51817575 51899186 N . N N 1.067001612 93.59842565 2.56E-06 80.8 . . PCMTD2 20 64255695 64287821 N . N N -0.211715637 34.80928402 0.012329763 54.1 . . PCNP 3 101574095 101594437 N . N N 0.08457904 56.06876194 0.87242341 18.9 . . PCNT 21 46324122 46445769 N . N N 2.688926909 99.31122301 4.18E-38 99.9 DM Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) PCNX 14 70907405 71115382 N . N N -3.199595814 0.503559646 0.999999565 1.5 . . PCNXL2 1 232983435 233295713 N . N N 0.667765803 86.1607918 7.55E-14 96.2 . . PCNXL3 11 65615773 65637439 N . N N -1.678897964 2.512010187 0.488259802 30.3 . . PCNXL4 14 60091911 60169133 N . N N . . 4.27E-16 97.5 . . PCOLCE 7 100602177 100608175 N . N Y 0.311884256 71.19291544 0.500664878 29.9 DM? . PCOLCE2 3 142815922 142889203 N . N Y 0.188965718 63.72634138 6.88E-07 83.2 FTV . PCP2 19 7631611 7633748 N . N Y 0.404494149 76.04329455 1.28E-05 77.4 . . PCP4 21 39867317 39929397 N . N Y 0.045150018 52.96637148 0.075103915 44.8 . . PCP4L1 1 161258727 161285450 N . N N 0.098628637 57.02378885 0.22398583 37.9 . . PCSK1N X 48831094 48835633 N Viable N Y . . 0.444049067 31.6 . . PCSK2 20 17226107 17484578 N . N Y -0.786586394 11.81918157 0.994186022 8.8 DP . PCSK4 19 1481428 1490752 N Viable N Y 0.865668715 90.4555189 6.59E-13 95.4 . . PCSK7 11 117204337 117232525 N . N N -0.314540604 28.57556289 0.191369613 38.9 . . PCSK9 1 55039548 55064852 N . N Y 1.723045673 97.97418533 1.03E-10 92.9 DM Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3) PCTP 17 55750979 55842830 N . N Y 0.680350018 86.42704173 1.63E-05 76.8 . . PCYOX1 2 70257386 70281191 N . N Y 0.603699992 84.26231406 6.73E-12 94.4 . . PCYOX1L 5 149358007 149369653 N . N N 0.020224237 51.10841002 1.27E-05 77.4 . . PCYT1B X 24558087 24672677 N . N Y 0.119374702 58.69074492 0.944740314 15.2 . . PDAP1 7 99392048 99408829 N . N N -0.018550615 48.01759565 0.005589378 57.6 . . PDC 1 186443566 186461122 N . N Y 0.301362114 70.58517104 2.23E-06 81.1 . Paroxysmal nonkinesigenic dyskinesia, 118800 (3) PDCD1 2 241849881 241858908 N . N Y 0.023748636 51.34571974 0.017954048 52.2 DM? {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3); {Multiple sclerosis, disease progression, modifier of}, 126200 (3) PDCD11 10 103396648 103446292 N . N N -1.446203587 3.704346819 0.468448698 30.9 . . PDCD1LG2 9 5510570 5571254 N . N Y 0.533151945 81.77345604 0.000429826 67.5 . . PDCD2L 19 34404384 34426168 N . N N -0.147863581 38.90142965 4.99E-05 73.9 . . PDCD4 10 110871795 110900006 N . N Y -0.60555081 16.60010418 0.000577684 66.6 . . PDCD5 19 32581068 32587452 N . N N -0.013918082 48.39381837 0.007120942 56.5 DFP . PDCD6 5 271621 353856 N . N Y 0.135337478 59.85414134 0.714212209 24.2 . . PDCD6IP 3 33798352 33869707 N . N N -0.489981901 20.60542918 0.751958922 23.1 . . PDCD7 15 65117379 65133836 N . N N -0.243641967 32.83556173 0.045374794 47.5 . . PDCL 9 122798389 122828631 N . N N -0.106673287 41.69126584 0.31202797 35.4 . . PDCL2 4 55556525 55592212 N . N N 0.191535973 63.89419459 0.041360287 48.1 . . PDCL3 2 100562690 100576735 N . N N 0.16167322 61.90310818 0.000392971 67.8 . . PDDC1 11 767220 777488 N . N N 0.129747743 59.39109799 0.617289948 27 . . PDE10A 6 165327287 165986603 N . N Y -0.656159394 15.18782196 0.998485351 6.6 . . PDE11A 2 177623252 178108339 N . N Y 1.169811994 94.75024599 4.17E-31 99.7 DM Pigmented nodular adrenocortical disease, primary, 2, 610475 (3) PDE1A 2 182140036 182523192 N . N N -0.778126027 12.06806737 0.730656355 23.7 DM? . PDE1B 12 54549350 54579239 N Viable N Y -0.402009394 24.309776 0.946737284 15.1 . . PDE1C 7 31751179 32299329 N . N Y 0.112325491 58.15824507 0.000270704 69 DM? . PDE3A 12 20369245 20684381 N . N Y -1.054513326 7.154019795 0.106612096 42.8 . Hypertension and brachydactyly syndrome, 112410 (3) PDE3B 11 14643723 14872044 N . N Y -1.0620173 7.038258957 0.00361647 59.5 . . PDE4A 19 10416773 10469631 N . N N -0.607164335 16.54222377 0.976417636 12.2 . . PDE4B 1 65792514 66374579 N . N Y -0.96938953 8.386872721 0.709078617 24.4 DM . PDE4C 19 18207961 18255419 N . N N -0.01250659 48.50379117 4.89E-05 74 DM? . PDE5A 4 119494395 119628991 N . N N 0.488434514 80.02546738 0.003390906 59.8 . . PDE6A 5 149857955 149944793 N . N N 1.128456987 94.29299068 6.61E-12 94.5 DM Retinitis pigmentosa 43, 613810 (3) PDE6B 4 625584 670782 N . N Y 0.877169376 90.69282862 1.63E-13 95.9 DM Night blindness, congenital stationary, autosomal dominant 2, 163500 (3); Retinitis pigmentosa-40, 613801 (3) PDE6C 10 93612588 93666010 N . N N -0.25914937 31.93262719 7.42E-08 86.5 DM Cone dystrophy 4, 613093 (3) PDE6D 2 231732425 231786272 N . N N 0.039560397 52.53226833 0.084496093 44.1 . ?Joubert syndrome 22, 615665 (3) PDE6G 17 81650459 81663112 N . N Y 0.39603475 75.62655554 0.014216424 53.4 DM Retinitis pigmentosa 57, 613582 (3) PDE6H 12 14973022 14981865 N . N N 0.145560638 60.65289113 0.006528713 56.9 DM Retinal cone dystrophy 3, 610024 (3); Achromatopsia 6, 610024 (3) PDE7A 8 65717510 65842322 N . N N -0.463948146 21.72830931 0.192057714 38.9 . . PDE7B 6 135851696 136195574 N . N N -0.063416885 44.9036291 0.946452269 15.1 FP . PDE8A 15 84980440 85139145 N Viable N Y -0.300491102 29.42640505 0.713477057 24.2 . . PDE8B 5 77210449 77429807 N . N Y -0.859706529 10.38374718 0.986862336 10.7 DM Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3) PDE9A 21 42653636 42775509 N . N N -0.325870286 27.99097065 0.002017364 61.8 . . PDF 16 69328621 69330595 N . N N . . 0.050315418 47 . . PDGFD 11 103907186 104164379 N . N N 0.331523457 72.40840424 0.015948336 52.9 DFP . PDGFRL 8 17576433 17644071 N . N N 0.347637183 73.26503444 4.17E-10 91.9 DFP Hepatocellular cancer, somatic, 114550 (3); Colorectal cancer, somatic, 114500 (3) PDHA2 4 95840019 95841474 N . N N 0.569860199 83.0526133 4.52E-11 93.4 . . PDHB 3 58427630 58433857 N . N N -0.255776741 32.13520866 0.357305589 34 DM Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) PDHX 11 34915829 35020591 N . N N 0.87014387 90.60021995 0.001370288 63.5 DM . PDIA2 16 283152 287215 N . N N 3.236295474 99.62956532 2.53E-21 98.9 . . PDIA4 7 149003062 149028641 N Viable N Y 0.178895556 63.10123285 0.014774297 53.2 DM? . PDIA5 3 123067062 123225227 N . N N -0.137338205 39.61914684 1.00E-06 82.5 . . PDIK1L 1 26111165 26125543 N . N N -0.336550417 27.43531863 0.381253877 33.3 . . PDILT 16 20359170 20404737 N . N Y 1.269909282 95.55478382 9.26E-06 78.3 . . PDK1 2 172555373 172608669 N Viable N Y 0.149537247 60.98280952 0.004656689 58.5 . . PDK2 17 50094737 50112152 N . N Y -0.427389804 23.21583608 0.168975525 39.8 . . PDK3 X 24465221 24539837 N . N N 0.208455225 64.9591943 0.87927552 18.6 DM ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3) PDK4 7 95583499 95596491 N Viable N Y 0.121438731 58.82965793 4.55E-06 79.7 . . PDLIM1 10 95237572 95291024 N . N Y -0.383328502 25.24743879 1.38E-05 77.2 . . PDLIM2 8 22578279 22598025 N . N Y . . 0.049749311 47 . . PDLIM4 5 132257671 132273454 N . N N -0.019355782 47.95971523 0.924088702 16.4 . . PDLIM5 4 94451857 94668227 N . N Y -0.150430658 38.69884818 0.012278281 54.1 DFP . PDP1 8 93857807 93926066 N . N N -0.886044899 9.862823407 0.340047358 34.5 DM Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) PDP2 16 66878589 66895754 N . N N -0.323151188 28.07200324 1.86E-05 76.4 . . PDPR 16 70113626 70162537 N . N N 1.747043312 98.04364184 4.85E-08 87 . . PDRG1 20 31944342 31952092 N . N N 0.366021797 74.14481681 0.001086939 64.4 . . PDSS1 10 26697659 26746798 N . N N -0.119765437 40.78833131 0.26315186 36.7 DM Coenzyme Q10 deficiency, primary, 2, 614651 (3) PDXDC1 16 14974591 15139339 N . N N -0.068552734 44.48689009 2.30E-07 85 . . PDXP 22 37658727 37666934 N . N N 0.171896242 62.66134167 0.042715349 47.9 . . PDYN 20 1978757 1994285 N . N Y 0.033165214 52.10395323 0.000256778 69.1 DM Spinocerebellar ataxia 23, 610245 (3) PDZD11 X 70286595 70290514 N . N N 0.166157019 62.22723853 0.813638005 21.2 . . PDZD2 5 31639410 32110931 N . N N -0.309191388 28.96914974 0.999645171 4.8 . . PDZD3 11 119185457 119190223 N . N Y 0.820339266 89.52943219 3.36E-07 84.4 . . PDZD4 X 153802166 153830565 N . N N -0.81755696 11.25195346 0.930873832 16.1 . . PDZD7 10 101007683 101031157 N . N Y 0.093340348 56.65335417 0.722769808 24 DM {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3); Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3) PDZD8 10 117277274 117375467 N . N N -1.050830532 7.206112172 0.997263557 7.4 . . PDZD9 16 21983865 22001110 N . N N 0.208455225 64.9591943 0.545260625 28.7 . . PDZK1 1 145670852 145708148 N . N Y 0.35770974 73.83805059 0.000134102 71 . . PDZK1IP1 1 47183593 47191044 N . N N 0.488942276 80.04283151 0.000484065 67.1 . . PDZRN3 3 73382433 73624940 N . N N -0.738261201 12.95363778 0.908376144 17.4 . . PDZRN4 12 41188448 41574590 N . N N 0.063632022 54.41916999 0.070852773 45 . . PEA15 1 160205337 160215376 N . N Y 0.030143764 51.8087631 0.698679172 24.6 . . PEAK1 15 77100656 77420144 N . N N -1.657415064 2.633559067 0.760544633 22.8 . . PEAR1 1 156893698 156916434 N . N Y 0.528180406 81.55351045 1.19E-14 96.7 DFP . PEBP1 12 118135858 118145584 N . N N -0.057022786 45.34352029 0.148864265 40.6 . . PEBP4 8 22713251 23000000 N . N N 1.542633814 97.18701163 0.038898535 48.5 . . PECAM1 17 64319415 64413776 N . N Y . . . . DFP . PECR 2 215996329 216082955 N . N N 0.632607038 85.1247323 0.000786066 65.6 DM . PEF1 1 31629862 31644896 N Viable N Y 0.009699407 50.29229612 0.323496549 35 . . PELI2 14 56117814 56301526 N . N N -0.259451686 31.91526307 0.948506495 14.9 . . PELI3 11 66466327 66477337 N . N Y -0.265040808 31.57376859 0.027343382 50.2 . . PELP1 17 4669774 4704337 N . N N -0.305932297 29.12542687 0.999794752 4.3 . . PEMT 17 17505563 17591708 N . N Y 0.539698884 82.04549401 0.367752728 33.7 DFP . PENK 8 56436674 56446734 N Viable N Y 0.426194468 77.17775077 2.76E-05 75.4 DFP . PER1 17 8140472 8156506 N . N Y 0.473108399 79.42929907 0.875748962 18.8 DM? . PER2 2 238244038 238290102 N . N Y 0.288235321 69.76326909 0.933004687 15.9 DM Advanced sleep phase syndrome, familial, 1, 604348 (3) PER3 1 7784320 7845177 N . N Y 0.225493277 65.97788968 2.19E-10 92.4 DP . PERM1 1 975204 982093 N . N N . . . . . . PET100 19 7629737 7631956 N . N N . . . . . Mitochondrial complex IV deficiency, 220110 (3) PET117 20 18137873 18143169 N . N N . . . . . . PEX1 7 92487020 92528531 N . N Y 0.13881566 60.07408694 3.97E-05 74.5 DM . PEX11A 15 89677764 89690783 N . N Y -0.190163599 36.15789778 5.94E-07 83.4 . . PEX11G 19 7476875 7497449 N . N N . . 0.000252773 69.1 . . PEX12 17 35574795 35578863 N . N N 0.139164133 60.1377554 3.70E-12 94.8 DM Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3); Peroxisome biogenesis disorder 3B, 266510 (3) PEX16 11 45909669 45918812 N . N Y 0.180505995 63.22856977 0.001746608 62.4 DM Peroxisome biogenesis disorder 8A, (Zellweger), 614876 (3); Peroxisome biogenesis disorder 8B, 614877 (3) PEX19 1 160276812 160286348 N . N N -0.329850009 27.74208485 0.042922172 47.9 DM Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3) PEX3 6 143450807 143490010 N . N Y -0.506249788 19.96874457 0.002761374 60.7 DM Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3) PEX5L 3 179794958 180037053 N . N Y -0.371040176 25.82045494 0.664004906 25.7 . . PEX6 6 42963870 42979220 N . N N 0.054215218 53.65514846 0.002849588 60.6 DM Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3); Peroxisome biogenesis disorder 4B, 614863 (3) PF4 4 73981077 73982124 N . N Y -0.082402837 43.40452625 0.033296817 49.2 . . PF4V1 4 73853189 73854155 N . N N 0.161523449 61.87995601 0.006892094 56.7 . . PFDN1 5 140245039 140303121 N . N N 0.092082157 56.56653354 0.805475103 21.4 . . PFDN4 20 54207847 54228052 N . N N 0.220592134 65.68848758 0.100179293 43.1 . . PFDN5 12 53295291 53299450 N . N N -0.124550289 40.46420096 0.043385561 47.8 . . PFKFB1 X 54932961 54998534 N Viable N Y 0.207648094 64.90710193 0.00022207 69.5 DM? . PFKFB2 1 207034366 207081024 N Viable N Y 0.053911889 53.6319963 0.001088627 64.4 . . PFKFB4 3 48517684 48562015 N Viable N Y -0.969540674 8.381084679 0.000321134 68.4 . . PFKP 10 3066333 3137712 N . N N -0.802929929 11.48347514 7.08E-15 96.8 . . PFN2 3 149964904 150050788 N . N Y -0.149930626 38.75094056 0.638693742 26.4 . . PFN3 5 177400107 177400636 N . N N -0.043930449 46.31591133 0.519957351 29.5 . . PFN4 2 24115371 24123477 N Viable N Y 0.299449341 70.47519824 0.001131063 64.2 . . PGA3 11 61203307 61213098 N . N N . . 0.645340634 26.2 . . PGA4 11 61222216 61231927 N . N N . . . . . . PGA5 11 61241042 61251448 N . N N . . 0.00127358 63.7 . . PGAM1 10 97426160 97433441 N . N N 0.008742604 50.21705157 0.623538729 26.8 DM . PGAM2 7 44062727 44065587 N . N N 0.262082672 68.1773456 0.000842262 65.4 DM Glycogen storage disease X, 261670 (3) PGAM4 X 77968874 77969638 N . N N 0.968353566 92.29032818 0.283270085 36.1 DFP . PGAM5 12 132710819 132722734 N Viable N Y 0.204778284 64.66400417 0.035216688 48.9 DM . PGAP2 11 3797724 3826371 N . N N 0.218021088 65.55536262 0.15222416 40.5 DM Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) PGAP3 17 39671122 39696797 N . N Y 0.378306375 74.85095792 0.09098473 43.7 . Hyperphosphatasia with mental retardation syndrome 4, 615716 (3) PGBD1 6 28281572 28302549 N . N N 0.76892506 88.53388899 1.47E-05 77.1 DP . PGBD2 1 248906196 248919946 N . N N -0.476888788 21.15529316 3.89E-07 84.1 . . PGBD3 10 49515105 49524227 N . N N -0.154257752 38.43838629 3.02E-06 80.5 . . PGBD4 15 34102073 34108684 N . N N -0.134619278 39.77542397 5.91E-05 73.4 . . PGBD5 1 230314482 230425729 N . N N . . 0.028063243 50 . . PGC 6 41736711 41754109 N . N N 0.136444713 59.97569022 3.30E-06 80.4 FP . PGD 1 10398592 10420144 N . N Y -0.749069701 12.66423569 0.968660462 13.2 FP . PGF 14 74941834 74955784 N . N Y 0.074356355 55.24107195 0.898304164 17.8 . . PGGT1B 5 115204012 115262872 N . N Y -0.481825845 20.92377149 0.625204501 26.8 . . PGK1 X 78065188 78129296 N . N N -0.188249534 36.2562945 0.971138952 12.9 DM Phosphoglycerate kinase 1 deficiency, 300653 (3) PGK2 6 49785934 49787187 N . N Y 0.615836151 84.63274874 9.51E-06 78.2 . . PGLS 19 17511629 17521288 N . N N 0.346381025 73.21294206 0.042057999 48 . . PGLYRP1 19 46019153 46023065 N . N Y 0.26384649 68.31047057 0.167200721 39.9 . . PGLYRP2 19 15468645 15498956 N . N Y 0.413251052 76.53527812 1.33E-08 88.6 DP . PGLYRP3 1 153297862 153310718 N . N Y 0.58199694 83.58511316 9.00E-05 72.2 DP . PGLYRP4 1 153330120 153348840 N . N Y 0.577363401 83.35359148 2.63E-08 87.8 DP . PGM1 1 63593276 63660245 N . N N -0.079076712 43.71129247 9.96E-06 78.1 DM Congenital disorder of glycosylation, type It, 614921 (3) PGM2 4 37826633 37862937 N . N N 0.356097127 73.757018 1.06E-12 95.2 . . PGM2L1 11 74330318 74398473 N . N N -0.53897936 18.62591885 0.390476073 33 . . PGM5 9 68328308 68531061 N . N N 0.252816761 67.59854141 0.961611244 13.8 . . PGP 16 2211997 2214807 N . N N . . 0.757807855 22.9 . . PGPEP1 19 18340587 18369950 N . N N -0.272697012 31.12808937 0.000353365 68.2 . . PGPEP1L 15 98968230 99007795 N . N N 0.411188149 76.40794119 6.98E-06 78.9 . . PGR 11 101029624 101130524 N . N Y -0.331459984 27.66684031 0.884782623 18.4 DM ?Progesterone resistance, 264080 (2) PGRMC1 X 119236245 119244466 N . N N 0.366978017 74.20848527 0.622396927 26.9 DM . PGRMC2 4 128269237 128288829 N . N N -0.027967398 47.43300341 0.403432082 32.7 . . PHACTR1 6 12716805 13290484 N . N N . . 0.664117315 25.7 DM? . PHACTR2 6 143536845 143831185 N . N N 0.014634888 50.60485038 0.007389423 56.4 . . PHACTR3 20 59577509 59847711 N . N N -0.002284668 49.2678127 0.971713289 12.8 . . PHAX 5 126600268 126627252 N . N N -0.229439648 33.75586039 0.002693196 60.8 . . PHC2 1 33323623 33431052 N . N Y -0.654096722 15.24570238 0.205656048 38.6 . . PHC3 3 170086732 170181749 N . N N -0.984251786 8.155351045 0.999955541 3.2 . . PHEX X 22032441 22251310 N . N Y -0.674036865 14.64953406 0.999645685 4.8 DM Hypophosphatemic rickets, X-linked dominant, 307800 (3) PHF1 6 33410399 33416453 N . N N 0.097973006 57.00063668 0.999558759 5 . . PHF10 6 169703905 169725566 N . N N -0.222893607 34.16102333 0.083884164 44.2 . . PHF12 17 28905250 28951771 N . N N -1.081801619 6.772009029 0.999959675 3.2 . . PHF19 9 120855652 120894896 N . N N -0.273500756 31.08178503 0.995642239 8.1 . . PHF20 20 35771974 35950381 N . N Y -0.812624446 11.33298605 0.975739228 12.3 . . PHF20L1 8 132775358 132848807 N . N N -1.647635509 2.697227528 0.999911984 3.7 . . PHF21B 22 44881162 45009999 N . N N 0.176829957 62.97389593 0.914020956 17 . . PHF23 17 7235028 7239722 N . N N -0.525887379 19.15841871 0.991271958 9.7 . . PHF24 9 34957608 34982544 N . N N . . . . . . PHF3 6 63635820 63779336 N . N N -3.268156561 0.474619436 0.99946942 5.2 DM? . PHF7 3 52410561 52423641 N . N N -0.610336728 16.45540314 0.064913882 45.5 . . PHF8 X 53936676 54048958 N . N N -0.848527708 10.5805406 0.998239853 6.7 DM Mental retardation syndrome, X-linked, Siderius type, 300263 (3) PHGR1 15 40351033 40356434 N . N N . . . . . . PHKA1 X 72578814 72714319 N . N N -0.738546232 12.94784974 0.881287038 18.6 DM Muscle glycogenosis, 300559 (3) PHKA2 X 18892300 18984598 N . N N 0.07863809 55.58256642 0.90808228 17.4 DM Glycogen storage disease, type IXa1, 306000 (3); Glycogen storage disease, type IXa2, 306000 (3) PHKB 16 47461123 47701523 N . N N -0.222293262 34.18417549 3.16E-10 92.1 DM Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3) PHKG1 7 56080283 56092996 N . N N 0.161823975 61.9204723 3.58E-10 92 . . PHKG2 16 30748270 30761176 N . N N -0.758487286 12.43271401 0.021634494 51.2 DM Glycogen storage disease IXc, 613027 (3); Cirrhosis due to liver phosphorylase kinase deficiency (3) PHLDA1 12 76025447 76033932 N . N N 0.037797903 52.3759912 0.166867883 39.9 . . PHLDA2 11 2928273 2929455 N . N Y 0.010504826 50.32702437 0.024259662 50.6 DFP . PHLDA3 1 201464383 201469237 N . N N 0.23846774 66.7534873 0.527854532 29.2 . . PHLDB1 11 118606440 118658038 N . N N -0.778377187 12.05649129 0.818580152 21 . . PHLDB2 3 111732497 111976517 N . N N -0.376039439 25.62944956 0.011215767 54.4 . . PHLDB3 19 43474954 43504935 N . N N 0.821295921 89.5583724 9.97E-17 97.7 . . PHLPP1 18 62715450 62980433 N . N Y -1.239253687 5.197661631 0.918153757 16.8 . . PHLPP2 16 71637835 71724701 N . N N -1.219353451 5.388667014 0.01579732 52.9 FP . PHOSPHO1 17 49223362 49230766 N . N N . . 0.631109188 26.6 . . PHOSPHO2 2 169694454 169701708 N . N N 0.232877563 66.3946287 0.015524683 53 . . PHPT1 9 136848724 136851027 N Viable N Y 0.113784984 58.30294611 0.004339632 58.7 . . PHRF1 11 576486 612222 N . N N -1.435684702 3.762227239 0.948919011 14.8 . . PHTF1 1 113696831 113759489 N Viable N Y -0.156020198 38.31683741 5.47E-18 98.1 . . PHTF2 7 77798792 77957503 N . N Y -0.591501503 16.99369103 0.024946427 50.5 . . PHYH 10 13277796 13302412 N Viable N Y 0.330566867 72.36788794 1.81E-05 76.5 DM Refsum disease, 266500 (3) PHYHD1 9 128920895 128942041 N . N N 0.633563367 85.15367251 5.93E-10 91.6 . . PHYHIP 8 22219704 22232341 N . N N -0.645137007 15.52931643 0.873268768 18.9 . . PHYHIPL 10 59176590 59247774 N . N N -0.726715257 13.21988771 0.402880317 32.7 . . PHYKPL 5 178208497 178232791 N . N Y -0.343746643 27.07067199 1.73E-10 92.6 . [?Phosphohydroxylysinuria], 615011 (3) PI15 8 74824537 74855029 N . N N -0.083207293 43.33506975 0.004309392 58.8 . . PI16 6 36948263 36964837 N . N N 0.061414866 54.25131678 4.40E-07 83.9 . . PI3 20 45174876 45176544 N . N N 0.617455056 84.68484112 0.005640314 57.5 DP . PI4K2A 10 97640686 97676434 N . N N -0.188249534 36.2562945 0.980219633 11.7 . . PI4K2B 4 25233975 25279092 N . N N -0.119765437 40.78833131 0.04265635 47.9 . . PI4KB 1 151291797 151327715 N . N N -1.367245054 4.167390172 0.998716211 6.3 . . PIANP 12 6693792 6700800 N . N N 0.035884366 52.28917057 0.61950924 27 . . PIAS2 18 46803224 46920160 N . N Y -0.634606635 15.80714244 0.997942261 7 . . PIAS3 1 145848522 145859836 N . N N -0.449746467 22.30132546 0.99817498 6.8 . . PICK1 22 38056311 38075701 N . N Y -0.351402069 26.69444927 0.555069205 28.5 DM . PID1 2 228850526 229271285 N . N N -0.098213329 42.19482549 0.403719374 32.7 DM? . PIDD1 11 799179 809753 N . N Y . . . . . . PIEZO1 16 88715343 88785211 N . N N . . 0.53596901 29 DM Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) PIEZO2 18 10666483 11148762 N . N N . . 0.603955313 27.4 DM Arthrogryposis, distal, type 5, 108145 (3); Arthrogryposis, distal, type 3, 114300 (3); ?Marden-Walker syndrome, 248700 (3) PIF1 15 64815632 64825668 N . N Y 1.334572872 96.00625109 7.58E-12 94.4 DM . PIGB 15 55318960 55355648 N . N N 0.226480797 66.06471031 0.000232192 69.3 . . PIGBOS1 15 55317184 55319161 N . N N . . . . . . PIGC 1 172370189 172444086 N . N N -0.074747377 44.06436303 0.000110183 71.5 . . PIGG 4 499210 540196 N . N N 1.292753114 95.72842507 8.78E-07 82.7 . . PIGK 1 77088990 77219430 N . N N -0.58686987 17.17890838 0.000544788 66.8 . . PIGM 1 160027673 160031991 N . N N -0.523016006 19.30311975 0.000916858 65.1 DM Glycosylphosphatidylinositol deficiency, 610293 (3) PIGN 18 62043567 62187118 N . N N -0.493808428 20.44915205 9.02E-16 97.3 DM Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) PIGO 9 35088688 35096601 N . N N -0.818892411 11.20564913 1.13E-06 82.4 DM Hyperphosphatasia with mental retardation syndrome 2, 614749 (3) PIGP 21 37059170 37073170 N . N N 0.520867599 81.28726052 0.000394929 67.8 . . PIGQ 16 566995 584136 N . N N 1.544057783 97.20437576 3.39E-10 92.1 . . PIGR 1 206928518 206946466 N . N Y -0.114678301 41.16455403 0.650095687 26 DP . PIGS 17 28553383 28571872 N . N N -0.735825246 13.00573016 0.079952448 44.5 . . PIGT 20 45416077 45426244 N . N N -0.096952969 42.29901024 4.66E-12 94.7 DM ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3); ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3) PIGV 1 26787472 26798398 N . N N -0.437610849 22.86276553 7.20E-06 78.9 DM Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) PIGW 17 36535020 36539310 N . N N -0.21715214 34.4620015 5.93E-07 83.4 . ?Hyperphosphatasia with mental retardation syndrome 5, 616025 (3) PIGX 3 196639775 196736007 N . N N 0.498357775 80.40169011 . . . . PIGY 4 88521573 88521789 N . N N 0.273114451 68.84297042 0.106390613 42.8 . . PIGZ 3 196946343 196969060 N . N N 0.010959166 50.34438849 0.000159853 70.5 . . PIH1D1 19 49446298 49453497 N . N N 0.026619 51.54251317 0.087951253 43.9 . . PIH1D2 11 112064010 112074274 N . N N 0.067810037 54.72014817 0.000130201 71.1 . . PIH1D3 X 107206632 107244243 N . N Y 0.124007879 59.04381548 0.814438564 21.1 . . PIK3AP1 10 96593312 96720514 N . N Y 0.434955725 77.64658216 0.999656619 4.8 . . PIK3C2B 1 204422628 204494724 N . N N -0.783973133 11.87127395 0.976238395 12.2 . . PIK3C2G 12 18247614 18648416 N . N N 1.036837082 93.21062684 9.19E-32 99.7 DP . PIK3CD 1 9651732 9729114 N . N Y -1.248801485 5.128205128 0.999984295 2.7 DM? Immunodeficiency 14, 615513 (3) PIK3CG 7 106865278 106907145 N . N Y -0.77209699 12.13752388 0.563963871 28.4 DM? . PIK3IP1 22 31281593 31292534 N . N N 0.23846774 66.7534873 0.059750976 46 . . PIK3R2 19 18153118 18170540 N . N Y -0.98454781 8.132198877 0.939626884 15.6 DM Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3) PIK3R3 1 46043661 46176488 N . N N -0.326021923 27.98518261 1.41E-06 82.1 DM? . PIK3R5 17 8878911 8965712 N . N Y -0.168156173 37.49493546 0.817693684 21.1 DM Ataxia-oculomotor apraxia 3, 615217 (3) PIK3R6 17 8802723 8867677 N . N N . . 1.38E-15 97.2 . . PILRA 7 100367530 100400099 N . N Y -0.192881585 36.00162065 2.14E-08 88.1 . . PILRB 7 100352176 100367733 N . N Y 1.070681405 93.63894195 3.37E-06 80.3 . . PIM1 6 37170203 37175426 N . N Y -0.566274989 17.74613648 0.886575783 18.3 . . PIM2 X 48913182 48919024 N . N Y 0.12592113 59.20588065 0.894760123 18 . . PIM3 22 49960513 49964080 N . N Y -0.227678773 33.88319731 0.937120654 15.8 . . PIN1 19 9835257 9849682 N . N Y -0.043930449 46.31591133 0.340906809 34.5 DM . PIN4 X 72181353 72302926 N . N N 0.184032836 63.46009145 0.646369633 26.1 . . PINK1 1 20633455 20651511 N Viable N Y 0.613117004 84.56329224 4.08E-07 84 DM Parkinson disease 6, early onset, 605909 (3) PINLYP 19 43576800 43583964 N . N N . . . . . . PIP 7 143132077 143139746 N . N Y 0.603404191 84.22179777 0.005505596 57.7 . . PIP4K2A 10 22534849 22714555 N . N Y -0.487414582 20.68067373 0.788196367 22 DFP . PIP4K2C 12 57591174 57603418 N . N N -0.58495545 17.22521271 0.013378735 53.7 . . PIP5K1B 9 68705414 69009176 N . N Y -0.29042075 30.03993749 0.007443047 56.3 . . PIP5KL1 9 127920879 127930797 N . N N . . 4.90E-06 79.6 . . PIPOX 17 28950513 29057220 N Viable N Y 0.652395794 85.70353649 9.88E-11 92.9 . . PIR X 15384799 15493564 N . N N 0.652248451 85.69774845 1.16E-05 77.7 DM? . PIRT 17 10822475 10838445 N . N Y 0.457973076 78.70579383 0.150384796 40.6 . . PITHD1 1 23778405 23788232 N . N N -0.133967403 39.81015223 0.102416723 43 . . PITPNC1 17 67377281 67697261 N . N N -0.416212455 23.64993923 0.967498711 13.3 . . PITPNM1 11 67491768 67506263 N . N Y -1.354558537 4.265786884 0.722090614 24 . . PITPNM2 12 122983480 123150015 N . N Y -1.384701863 4.04005325 0.999993632 2.3 . . PITPNM3 17 6451264 6556494 N . N N -1.107041422 6.476818892 0.999503783 5.2 DM Cone-rod dystrophy 5, 600977 (3) PITX3 10 102230186 102241474 N Viable N Y -0.206126746 35.13920241 0.768360298 22.6 DM Anterior segment mesenchymal dysgenesis, 107250 (3); Cataract 11, multiple types, 610623 (3); Cataract 11, syndromic, 610623 (3) PIWIL1 12 130337887 130372637 N . N Y -1.156983625 6.019563582 2.13E-07 85.1 . . PIWIL2 8 22275297 22357563 N . N Y -0.884652628 9.880187533 0.002483152 61.1 . . PIWIL3 22 24719034 24774720 N . N N 2.237591408 98.91763616 9.87E-26 99.4 DP . PIWIL4 11 94543840 94621421 N . N Y 0.081356602 55.81987614 7.41E-06 78.8 DM? . PJA1 X 69160851 69165793 N . N N 0.158953701 61.6715865 0.894042635 18 . . PJA2 5 109334709 109409994 N Viable N Y -0.258342977 31.98471957 0.466603862 30.9 . . pk 2 173075435 173268010 N . N N . . . . . . PKD1L3 16 71929538 71999978 N . N N . . . . . . PKD2L1 10 100288154 100330486 N . N Y 1.089979643 93.8530995 6.57E-17 97.8 . . PKD2L2 5 137887968 137942747 N Viable N Y -0.065178849 44.7647161 3.50E-07 84.3 . . PKDREJ 22 46255663 46263355 N . N Y -0.193466627 35.91480002 4.71E-20 98.7 . . PKHD1L1 8 109362477 109530330 N . N N 5.835040674 99.87845112 9.13E-65 100 DM? . PKIA 8 78516139 78605267 N Viable N Y 0.045150018 52.96637148 0.254973076 36.9 . . PKIB 6 122471917 122726373 N . N Y 0.220592134 65.68848758 0.219496928 38 . . PKIG 20 44531785 44624247 N Viable N Y -0.037384251 46.76159055 0.564580331 28.3 . . PKLR 1 155289839 155301434 N . N N -0.264889266 3.16E+01 1.00E-05 78.1 DM Pyruvate kinase deficiency, 266200 (3); Adenosine triphosphate, elevated, of erythrocytes, 102900 (3) PKMYT1 16 2968024 2980539 N . N N -0.296966779 29.62319847 0.667410731 25.6 . . PKN1 19 14433053 14471867 N Viable N Y -0.153956776 38.47890259 0.85469464 19.7 . . PKN2 1 88684222 88836255 N . N N -0.332416646 27.63211206 0.999995223 2.2 . . PKN3 9 128702523 128720918 N . N Y -0.177422646 36.89297911 1.47E-09 90.8 FTV . PKNOX2 11 125164687 125433389 N . N N -0.666533619 14.84053945 0.917368947 16.8 . . PKP1 1 201283452 201332993 N . N N -0.08834239 42.94727094 0.004802364 58.3 DM Ectodermal dysplasia/skin fragility syndrome, 604536 (3) PKP3 11 392614 404908 N . N Y 1.213710021 95.17277305 0.194350415 38.9 . . PKP4 2 158456964 158682879 N Viable N Y -0.549576654 18.21496788 1.60E-05 76.9 . . PLA1A 3 119597842 119629811 N . N N 0.140271809 60.22457603 0.001690148 62.5 . . PLA2G10 16 14672545 14694669 N Viable N Y . . 0.021747733 51.2 FP . PLA2G12A 4 109709989 109730077 N . N N 0.353884195 73.67019737 0.001881561 62.1 . . PLA2G12B 10 72935170 72954778 N . N N -0.260562407 31.82844244 0.059869032 46 . . PLA2G15 16 68245304 68261062 N . N Y -0.235985706 33.32175725 0.65843 25.8 . . PLA2G16 11 63573195 63616883 N . N N 0.331374701 72.39104011 1.19E-05 77.6 . . PLA2G1B 12 120322111 120327789 N . N Y -0.137642372 39.56705447 3.65E-11 93.6 . . PLA2G2A 1 19975431 19980416 N . N N 0.351971606 73.48498003 0.398124558 32.8 DM {Colorectal cancer}, 114500 (3) PLA2G2C 1 20161253 20177424 N . N N . . 0.000569563 66.6 . . PLA2G2D 1 20111939 20119566 N . N Y 0.422369205 76.96359322 0.000177683 70.2 DFP . PLA2G2E 1 19920009 19923617 N Viable N Y 0.421412982 76.87677259 0.000343166 68.3 . . PLA2G2F 1 20139326 20150386 N . N N 0.294815417 70.1800081 2.10E-06 81.2 . . PLA2G4A 1 186828953 186988981 N . N Y -0.131748807 39.96064132 0.001100018 64.3 DM Phospholipase A2, group IV A, deficiency of (3) PLA2G4B 15 41837775 41848147 N . N N 0.823686163 89.61625282 9.16E-25 99.3 . . PLA2G4C 19 48047843 48110817 N . N N 1.305514024 95.82682179 4.42E-08 87.1 DP . PLA2G4D 15 42067009 42094554 N . N N 1.650080493 97.73108757 6.29E-10 91.5 . . PLA2G4E 15 41981582 42051190 N . N N 0.160061943 61.76419517 2.28E-06 81.1 . . PLA2G4F 15 42139034 42156636 N . N N 1.170771308 94.75603403 1.40E-09 90.9 . . PLA2G5 1 20028179 20091190 N . N Y -0.291531924 29.91838861 0.000190275 70 DM [Fleck retina, familial benign], 228980 (3) PLA2G6 22 38111495 38205690 N . N Y -0.033101966 47.07414482 2.66E-08 87.8 DM Infantile neuroaxonal dystrophy 1, 256600 (3); Neurodegeneration with brain iron accumulation 2B, 610217 (3); Parkinson disease 14, autosomal recessive, 612953 (3) PLA2G7 6 46704201 46735693 N . N N 1.322283531 95.9252185 8.02E-11 93.1 DM Platelet-activating factor acetylhydrolase deficiency, 614278 (3); {Asthma, susceptibility to}, 600807 (3); {Atopy, susceptibility to}, 147050 (3) PLA2R1 2 159932006 160062610 N . N Y 1.305240274 95.82103374 5.18E-15 96.8 DP . PLAA 9 26904083 26947463 N . N N -1.235848663 5.249754008 0.648657498 26.1 . . PLAC8 4 83090048 83137075 N . N Y -0.074899744 44.03542282 0.372859442 33.5 . . PLAC8L1 5 146084386 146104369 N . N N 0.398903333 75.78283267 0.132377855 41.5 . . PLAC9 10 80131682 80145359 N . N N 0.586485615 83.7298142 0.010238569 54.8 . . PLAG1 8 56160904 56211324 N . N Y 0.284591847 69.63014412 0.829917236 20.6 . Adenomas, salivary gland pleomorphic, 181030 (3) PLAT 8 42175233 42207724 N Viable N Y 0.048474078 53.29050182 0.00019718 69.8 DM? Thrombophilia, familial, due to decreased release of PLAT, 612348 (1); Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1) PLAU 10 73909177 73917497 N . N Y 0.931935334 91.75782833 0.00055027 66.7 DM {Alzheimer disease, late-onset, susceptibility to}, 104300 (3); Quebec platelet disorder, 601709 (3) PLAUR 19 43646095 43670547 N . N Y 0.088556503 56.32922382 0.306584926 35.6 DP . PLB1 2 28457145 28643788 N . N N 2.257325672 98.94078833 1.99E-56 100 . . PLBD1 12 14503661 14568349 N . N N 0.260319777 68.05579672 9.67E-13 95.3 . . PLBD2 12 113358566 113391625 N . N N 0.114892509 58.36661457 7.18E-08 86.5 . . PLCB2 15 40278176 40307935 N Viable N Y 0.163239354 61.98992881 3.02E-12 94.9 . Platelet PLC beta-2 deficiency (1) PLCD1 3 38007496 38029762 N . N Y -0.504840743 20.00347283 2.55E-09 90.3 DM Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3) PLCD3 17 45108967 45133354 N . N N . . 0.000143297 70.8 . . PLCD4 2 218607765 218637184 N . N Y -0.345509503 26.97227528 8.12E-09 89.2 DM? . PLCE1 10 93993989 94332823 N . N Y -1.359749467 4.219482549 0.204555596 38.6 DM Nephrotic syndrome, type 3, 610725 (3) PLCG2 16 81739097 81962693 N . N Y -0.782065245 11.93494241 0.999993047 2.4 DM Familial cold autoinflammatory syndrome 3, 614468 (3); Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3) PLCH1 3 155375580 155745067 N . N N -2.233713014 1.232852926 0.425540925 32.1 . . PLCH2 1 2425980 2505530 N . N Y 0.972008325 92.34242056 1.71E-08 88.3 . . PLCL1 2 197804702 198572581 N . N Y -1.107180261 6.47103085 0.011052371 54.5 . . PLCL2 3 16802651 17090594 N . N Y -1.401896392 3.912716328 0.99911878 5.7 . . PLCXD1 X 276322 303356 N . N N 0.060609534 54.16449615 1.57E-12 95.1 . . PLCXD2 3 111674676 111846447 N . N N -0.12631151 40.31371187 5.17E-05 73.8 . . PLCXD3 5 41306954 41510628 N . N N -0.679780532 14.50483301 0.048488739 47.2 . . PLCZ1 12 18683169 18738057 N . N N -0.537870687 18.7011634 6.45E-10 91.5 DM . PLD1 3 171600405 171810950 N . N Y 0.650149553 85.62829195 7.21E-16 97.4 . . PLD2 17 4807096 4823434 N . N Y 0.39503781 75.56867512 8.13E-14 96.2 DP . PLD3 19 40348456 40380439 N . N N -0.234071877 33.43751809 0.015972164 52.8 . {Alzheimer disease 19, late onset, susceptibility to}, 615711 (3) PLD4 14 104924816 104937790 N . N N 0.219934482 65.64797129 1.23E-13 96 . . PLD5 1 242082986 242524696 N Viable N Y -0.486457463 20.70961394 0.124197737 41.9 . . PLD6 17 17200995 17206315 N . N Y . . 0.075462604 44.7 . . PLEK 2 68365173 68397453 N . N Y 0.626060077 84.945303 0.140273937 41.1 . . PLEK2 14 67386983 67412200 N . N N -0.078422859 43.78074897 2.22E-08 88 . . PLEKHA2 8 38901235 38973909 N . N N . . 0.363909174 33.8 . . PLEKHA3 2 178480468 178516462 N . N N -0.197666633 35.6485501 0.022978699 50.9 . . PLEKHA4 19 48837097 48868632 N . N N 1.484022881 96.88603345 4.74E-09 89.6 . . PLEKHA5 12 19129752 19376400 N . N N -1.229017643 5.319210511 0.999999408 1.5 . . PLEKHA6 1 204218851 204377665 N . N N 0.153821898 61.27799965 0.98196907 11.4 . . PLEKHA7 11 16778295 17014443 N . N N -1.558147182 3.038722 0.000173041 70.2 . . PLEKHA8 7 30027404 30130483 N Viable N Y 0.030446167 51.85506743 2.06E-06 81.3 . . PLEKHB1 11 73646178 73662819 N . N Y 0.448703989 78.31799502 0.000703307 65.9 . . PLEKHB2 2 131104847 131353709 N . N N 0.122244706 58.89332639 3.54E-06 80.2 . . PLEKHD1 14 69484692 69531551 N . N N . . . . . . PLEKHF1 19 29665056 29675457 N . N N 0.370803213 74.41685478 0.099066997 43.2 . . PLEKHF2 8 95133804 95156684 N . N N -0.322501565 28.10673149 0.749566017 23.2 . . PLEKHG1 6 150599863 150843665 N . N Y -0.46689777 21.5604561 0.000178677 70.2 . . PLEKHG2 19 39412585 39428415 N . N N 1.394329452 96.36510968 3.59E-08 87.4 . . PLEKHG3 14 64704102 64750247 N Viable N Y 1.566930619 97.30277247 1.16E-08 88.8 . . PLEKHG4 16 67277510 67289499 N . N N 0.529138487 81.62875499 1.46E-09 90.8 DM . PLEKHG4B 5 140258 189970 N . N N 2.06149693 98.66296232 7.81E-20 98.6 . . PLEKHG5 1 6466092 6520061 N . N Y 1.146341385 94.49557215 4.03E-05 74.5 DM Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3); Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) PLEKHG6 12 6310436 6328506 N . N N 0.072896737 55.12531111 1.17E-10 92.9 . . PLEKHG7 12 92721505 92772455 N . N N 0.37749856 74.80465359 3.68E-11 93.6 . . PLEKHH1 14 67533301 67589612 N . N N 1.464566628 96.79921283 0.000660285 66.2 FTV . PLEKHH2 2 43637273 43767987 N . N N -0.678786388 14.52798518 1.79E-26 99.5 . . PLEKHH3 17 42667914 42676994 N . N N -0.237747492 33.21178445 0.003760662 59.3 . . PLEKHJ1 19 2230084 2237704 N . N N 0.533962119 81.81976038 0.46324813 31.1 . . PLEKHM1 17 45435900 45490749 N Viable N Y -1.056423681 7.125079586 0.84054321 20.3 DM Osteopetrosis, autosomal recessive 6, 611497 (3) PLEKHM2 1 15684332 15734769 N . N Y 0.277391673 69.1439486 0.005065575 58 . . PLEKHM3 2 207828303 208025560 N . N N 0.075615479 55.33946866 0.766248376 22.7 . . PLEKHN1 1 966497 975865 N . N N 1.556985218 97.26225618 2.02E-08 88.1 . . PLEKHO1 1 150149183 150164720 N . N Y -0.007068709 48.91474214 0.949230797 14.8 . . PLEKHO2 15 64841883 64868007 N . N N 0.267822797 68.56514441 0.004753842 58.3 . . PLEKHS1 10 113751454 113783429 N . N N 0.5098348 80.86473346 1.17E-15 97.3 . . PLET1 11 112248479 112260860 N . N N . . . . . . PLG 6 160702238 160753315 N . N Y 0.160214418 61.76998321 0.002435117 61.2 DM Dysplasminogenemia, 217090 (3); Plasminogen deficiency, type I, 217090 (3) PLGLB1 2 87002559 87021852 N . N N . . . . . . PLGLB2 2 87748087 87758793 N . N N . . . . . . PLGRKT 9 5357973 5437878 N . N N 0.035884366 52.28917057 8.36E-08 86.3 . . PLIN1 15 89664365 89679427 N . N Y 0.552940591 82.54905366 3.56E-07 84.3 DM Lipodystrophy, familial partial, type 4, 613877 (3) PLIN2 9 19108375 19149290 N . N Y -0.195600015 35.79903919 1.20E-05 77.6 . . PLIN3 19 4838341 4867768 N . N N 0.000585754 49.48197025 1.24E-08 88.6 . . PLIN4 19 4502180 4518465 N Viable N Y 7.788153846 99.9305435 1.66E-12 95.1 DFP . PLIN5 19 4522531 4535224 N . N Y 0.296878173 70.31892111 1.32E-07 85.8 . . PLK5 19 1524074 1535456 N . N N . . 0.07162546 45 . . PLLP 16 57248547 57284687 N . N N 0.118418051 58.60971233 0.519581852 29.5 . . PLN 6 118548298 118560730 N . N Y 0.105175156 57.60838108 0.111194229 42.5 DM Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3) PLOD1 1 11934205 11975538 N Viable N Y 0.33661299 72.65729004 2.70E-07 84.7 DM Ehlers-Danlos syndrome, type VI, 225400 (3) PLOD2 3 146069440 146163653 N . N N -0.127921681 40.20952712 0.00117484 64.1 DM Bruck syndrome 2, 609220 (3) PLP2 X 49171926 49175239 N . N N 0.677482548 86.33443306 0.112369205 42.5 DM? . PLS1 3 142596387 142713664 N . N Y -0.534194499 18.82271228 0.000310388 68.5 . . PLS3 X 115561174 115650861 N . N Y -0.400249026 24.39659663 0.987821983 10.4 . Bone mineral density QTL18, osteoporosis, 300910 (3) PLSCR1 3 146515180 146544864 N Viable N Y 0.493723196 80.22226081 0.002931645 60.4 . . PLSCR2 3 146391421 146495991 N Viable N Y 0.241337169 66.9618568 2.19E-05 76 . . PLSCR4 3 146192339 146251179 N . N N 0.307101058 70.88036117 0.001692409 62.5 . . PLSCR5 3 146576555 146606216 N . N N 0.116655069 58.50552758 1.17E-09 91 . . PLTP 20 45898621 45912155 N . N Y 0.042733143 52.78694218 0.000142042 70.8 DM? [High density lipoprotein cholesterol level QTL 9] (3) PLXDC1 17 39063303 39154394 N . N N 0.131812033 59.53579904 0.000149406 70.6 . . PLXDC2 10 19816239 20289856 N . N N -0.187140168 36.325751 0.613047817 27.1 DM? . PLXNA1 3 126988594 127037392 N . N Y -3.886203995 0.254673844 0.999998425 1.9 . . PLXNA2 1 208022242 208244320 N . N Y -1.184356372 5.735949528 0.993981182 8.9 DM? . PLXNA3 X 154458281 154477779 N . N Y -0.73214678 13.121491 0.983112793 11.2 . . PLXNA4 7 132123332 132648688 N . N Y -1.462076201 3.559645772 0.999999702 1.4 DM? . PLXNB1 3 48403854 48430051 N . N Y -0.553818474 18.11078312 0.850195108 19.9 DM? . PLXNB3 X 153764196 153779346 N . N N 1.597143396 97.47641373 0.103343014 42.9 . . PLXNC1 12 94148723 94307675 N . N Y -1.462611211 3.55385773 0.99971484 4.6 . . PM20D1 1 205828022 205850132 N . N N 0.777232305 88.74225849 1.27E-09 91 . . PM20D2 6 89146050 89165565 N . N N 0.463710367 79.01834809 0.001166743 64.1 . . PMAIP1 18 59899948 59904306 N . N Y 0.218679327 65.57851479 0.461950506 31.1 FP . PMCH 12 102196459 102197845 N . N Y 0.169983117 62.51085258 0.115285756 42.3 . . PMEL 12 55954105 55973317 N . N Y 0.01846215 50.93476877 1.12E-07 86 . . PMEPA1 20 57648392 57711536 N . N N 0.005872186 49.93922556 0.416594874 32.4 . . PMF1 1 156212993 156240042 N . N N 0.7047722 87.01163396 1.71E-05 76.7 . . PMF1-BGLAP 1 156212982 156243332 N . N N 0.812688748 89.3789431 1.71E-05 76.7 . . PMFBP1 16 72112157 72176878 N . N N 0.133226762 59.65155988 4.06E-25 99.3 . . PML 15 73994673 74047812 N . N Y -0.239065731 33.1075997 0.937511029 15.7 DM? Leukemia, acute promyelocytic, PML/RARA type (3) PMM1 22 41576894 41589890 N . N Y -0.072833607 44.24958037 0.000159925 70.4 . . PMP2 8 81440326 81447523 N . N N 0.563975498 82.86739596 0.033981701 49.1 . . PMPCA 9 136410570 136423761 N . N N -0.587523537 17.17312033 0.00018605 70 . . PMS1 2 189784085 189877629 N . N N 0.43223852 77.50188111 6.56E-14 96.3 DM . PMS2 7 5973239 6009125 N . N Y 1.273907241 95.57214794 1.14E-13 96 DM Mismatch repair cancer syndrome, 276300 (3); Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) PMVK 1 154924734 154936991 N . N N 0.399859596 75.829137 0.000305455 68.6 . . PNCK X 153669730 153689010 N Viable N Y -0.141317516 39.35289691 0.00047919 67.1 . . PNISR 6 99398051 99425331 N . N N -0.211411415 34.85558835 0.999085487 5.8 . . PNKD 2 218270392 218346793 N . N Y 0.780909061 88.81750304 1.90E-08 88.2 DM Paroxysmal nonkinesigenic dyskinesia, 118800 (3) PNKP 19 49861204 49878351 N . N N 0.167564929 62.36036349 2.88E-07 84.6 DM Microcephaly, seizures, and developmental delay, 613402 (3); Ataxia-oculomotor apraxia 4, 616267 (3) PNLDC1 6 159800249 159820704 N . N N -0.11674285 40.99670082 2.54E-08 87.9 . . PNLIP 10 116545931 116567855 N . N Y -0.377586284 25.59472131 0.009354471 55.2 . Pancreatic lipase deficiency, 614338 (1) PNLIPRP1 10 116590385 116609175 N . N N -0.245250499 32.76031718 6.28E-10 91.6 . . PNLIPRP3 10 116427867 116477957 N . N N 0.449809762 78.35851132 2.75E-09 90.2 . . PNMA1 14 73711783 73714372 N . N N -0.170372579 37.39075071 0.059310372 46.1 . . PNMA2 8 26504686 26514092 N . N N 0.239573531 66.85188401 0.101076995 43 . . PNMA3 X 153056409 153060467 N . N N 0.314604136 71.36076865 0.005337808 57.8 . . PNMA5 X 152988824 152994127 N . N N 0.36808233 74.28951786 0.006097075 57.1 . . PNMA6A X 153072482 153075018 N . N N . . . . . . PNMAL1 19 46466491 46471563 N . N N 0.292245427 70.07003531 0.04443696 47.7 . . PNMAL2 19 46486906 46496498 N . N N 0.011764461 50.40805695 . . . . PNMT 17 39667981 39670475 N Viable N Y 0.115698365 58.41870695 0.00075382 65.7 DFP . PNOC 8 28316986 28343355 N . N Y 0.155933478 61.44006483 0.151495123 40.5 . . PNPLA2 11 818902 825573 N . N Y 0.71146575 87.17948718 0.001141193 64.2 DM Neutral lipid storage disease with myopathy, 610717 (3) PNPLA3 22 43923739 43964488 N . N N 0.537128297 81.95288534 0.000103859 71.7 DFP . PNPLA4 X 7898247 7927739 N . N N 0.241337169 66.9618568 0.011068508 54.5 . . PNPLA5 22 43879678 43892013 N . N N 1.129901083 94.33350697 9.38E-07 82.6 . . PNPLA7 9 137459953 137550534 N . N N 2.641866765 99.25913064 6.23E-27 99.5 . . PNRC1 6 89080751 89085160 N . N N -0.076661182 43.91387394 0.83615928 20.4 . . PNRC2 1 23959109 23963462 N . N Y . . . . . . POC1A 3 52075253 52154690 N . N N 0.348442859 73.32291486 1.15E-05 77.7 DM Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) POC1B 12 89419718 89526024 N Viable N Y -0.052086548 45.6213463 5.89E-05 73.5 . Cone-rod dystrophy 20, 615973 (3) POC1B-GALNT4 12 89519408 89526262 N . N N -0.442243367 22.62545581 0.037596493 48.6 . . POC5 5 75674124 75717481 N . N N 0.598916451 84.09446084 0.002138162 61.6 . . PODN 1 53062052 53085502 N Viable N Y 0.024051489 51.38044799 5.20E-07 83.7 . . PODNL1 19 13931187 13953392 N . N N . . 2.51E-14 96.5 . . PODXL2 3 127629181 127672809 N Viable N Y 0.501374974 80.48851074 0.977986099 12 . . POF1B X 85277396 85379743 N . N Y 0.718012692 87.37049256 0.000181225 70.1 DP Premature ovarian failure 2B, 300604 (3) POGK 1 166839447 166856344 N . N N 0.089513257 56.41025641 0.917279175 16.8 . . POGZ 1 151402724 151459465 N . N N -1.884812304 1.94478208 0.999999128 1.6 DM? Mental retardation, autosomal dominant 37, 616364 (3) POLA1 X 24693919 24996986 N . N N 0.021332626 51.17207849 0.999999525 1.5 . ?N syndrome, 310465 (1) POLA2 11 65261762 65305589 N . N N -0.068854605 44.475314 0.000215959 69.6 . . POLD2 7 44114681 44124358 N . N N -0.953576407 8.664698732 0.044324393 47.7 . . POLD4 11 67350777 67356972 N . N N 0.144604076 60.5660705 0.745036469 23.3 . . POLDIP3 22 42583721 42614962 N . N N -0.749069701 12.66423569 0.832319947 20.6 . . POLE2 14 49643555 49688422 N . N N -0.42451861 23.36632517 0.000153356 70.6 FTV . POLE3 9 113407235 113410672 N . N N 0.230008154 66.23835157 0.077745399 44.6 . . POLE4 2 74958492 74970128 N . N N . . 0.000410965 67.7 . . POLH 6 43576150 43615660 N . N Y 0.812987893 89.38473115 0.003590871 59.6 DM Xeroderma pigmentosum, variant type, 278750 (3) POLI 18 54269404 54321266 N . N N 1.215466464 95.20171326 4.27E-09 89.7 . . POLK 5 75511756 75601144 N . N Y 0.255839634 67.81269896 6.00E-07 83.4 . . POLL 10 101578882 101588270 N . N Y 0.135639287 59.89465764 2.25E-11 93.8 FP . POLM 7 44072247 44082540 N . N Y 0.496742012 80.34380969 2.43E-08 87.9 . . POLN 4 2071918 2242121 N Viable N Y 1.371459735 96.23777276 3.00E-32 99.8 . . POLQ 3 121431427 121546641 N . N Y 0.17280811 62.68449384 9.95E-47 100 . . POLR1A 2 86020216 86106155 N . N N -2.624138603 0.862418244 0.999861746 4.1 . Acrofacial dysostosis, Cincinnati type, 616462 (3) POLR1C 6 43509702 43529585 N . N N -0.257537798 32.06575216 0.000291623 68.8 DM Treacher Collins syndrome 3, 248390 (3); Leukodystrophy, hypomyelinating, 11, 616494 (3) POLR1D 13 27620742 27667415 N . N N -0.084164209 43.24824912 0.257868791 36.8 DM Treacher Collins syndrome 2, 613717 (3) POLR2B 4 56977722 57031168 N . N N -1.520202512 3.241303467 0.988161838 10.4 . . POLR2C 16 57462387 57472010 N . N N -0.342138919 27.14591654 0.047007726 47.4 . . POLR2D 2 127843551 127858157 N . N N 0.190579485 63.80158592 0.470737785 30.8 . . POLR2E 19 1086579 1095380 N . N N -0.006263422 49.00156277 4.41E-08 87.2 DP . POLR2F 22 37952607 38041915 N . N N -0.148016487 38.85512531 0.652869046 25.9 . . POLR2G 11 62761544 62766710 N . N N -0.209955284 34.90768073 0.006465395 56.9 . . POLR2I 19 36113710 36115346 N . N N -0.027967398 47.43300341 0.054160278 46.5 . . POLR2J 7 102473118 102478907 N . N N . . 0.444173139 31.6 . . POLR2J2 7 102665368 102671629 N . N N . . 0.092340906 43.6 . . POLR2J3 7 102537918 102572656 N . N N . . . . . . POLR2K 8 100150584 100154002 N . N N 0.03764689 52.34705099 0.011778252 54.3 . . POLR2L 11 837356 842545 N . N N -0.119918286 40.73045089 0.532880511 29.1 . . POLR2M 15 57706629 57782762 N . N N 0.331523457 72.40840424 0.169086389 39.8 DM? . POLR3A 10 77969251 78029545 N . N N -2.052691913 1.533831105 7.39E-14 96.2 DM Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) POLR3B 12 106357658 106510198 N . N N -1.242252732 5.174509463 2.73E-09 90.2 DM Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) POLR3C 1 145824088 145842505 N . N N -0.02575038 47.53718817 8.66E-06 78.4 . . POLR3D 8 22245104 22254600 N . N N -0.183464709 36.53990855 5.66E-11 93.3 . . POLR3E 16 22297375 22335103 N . N N -0.806077123 11.41401864 0.019465818 51.8 . . POLR3GL 1 145964702 145978848 N . N N 0.044344174 52.90849106 0.002440213 61.2 . . POLR3H 22 41525804 41544606 N . N N -0.119765437 40.78833131 0.002007106 61.9 . . POLR3K 16 46407 53628 N . N N -0.004501323 49.10574753 0.324223635 35 . . POLRMT 19 617224 633604 N . N N 0.041732742 52.67696938 2.60E-13 95.8 FTV . POM121 7 72879365 72951440 N . N N 1.909268355 98.40828848 . . . . POM121C 7 75416787 75486271 N . N N 1.105782729 94.00358859 . . . . POM121L12 7 53035642 53036924 N . N N 1.359804338 96.1741043 8.97E-05 72.2 . . POM121L2 6 27285903 27312170 N . N N . . . . . . POM121L7 22 21125660 21128063 N . N N . . . . . . POMK 8 43093506 43123434 N . N N 0.149537247 60.98280952 0.000523312 66.9 . Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3); ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3) POMP 13 28659104 28678925 N . N N 0.002044933 49.63824738 0.861423056 19.5 DM Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3) POMZP3 7 76609986 76627261 N . N N 0.538742637 81.99918967 0.879121225 18.7 . . PON1 7 95297676 95324707 N . N Y 0.921562896 91.52630665 0.002208844 61.5 DM {Coronary artery disease, susceptibility to} (3); {Coronary artery spasm 2, susceptibility to (3); {Organophosphate poisoning, sensitivity to} (3); {Microvascular complications of diabetes 5}, 612633 (3) PON2 7 95404863 95435329 N . N Y -0.11785159 40.91566823 0.001404248 63.3 DM {Coronary artery disease, susceptibility to} (3) POP1 8 98117297 98159834 N . N N -0.258044198 32.0020837 2.42E-08 87.9 DM . POP5 12 120578764 120581398 N . N N -0.048562831 45.92232448 1.28E-05 77.4 . . POP7 7 100706053 100707495 N . N N 0.079946001 55.69832726 0.285660409 36.1 . . POPDC2 3 119636457 119665324 N . N Y 0.013526612 50.54118192 0.000116008 71.4 . . POPDC3 6 105158280 105179995 N Viable N Y 0.031251654 51.92452393 1.71E-05 76.7 . . POSTN 13 37562583 37598844 Y Viable N Y -0.895163491 9.683394108 5.52E-05 73.7 DFP . POTEB 15 21846329 21877703 N . N N . . . . . . POTEB2 15 20835372 20866314 N . N N . . 0.571892791 28.2 . . POTEB3 15 21408243 21440451 N . N N . . . . . . POTEC 18 14507339 14543585 N . N N 1.824285691 98.24043526 0.161704414 40.1 . . POTED 21 13609858 13641585 N . N N . . 0.736659832 23.6 . . POTEE 2 131218067 131265278 N . N N . . . . . . POTEF 2 130073535 130129222 N . N N 2.409274578 99.12021763 . . . . POTEG 14 19402486 19434341 N . N N . . . . . . POTEH 22 15690026 15721631 N . N N 3.094229701 99.5716849 . . FTV . POTEI 2 130459455 130509666 N . N N . . . . . . POTEJ 2 130611481 130658091 N . N N . . . . . . POTEM 14 18967434 18999012 N . N N . . 0.784476802 22.2 . . POU1F1 3 87259404 87276587 N . N N -0.240770687 32.9976269 0.618818419 27 DM Pituitary hormone deficiency, combined, 1, 613038 (3) POU2AF1 11 111352252 111455630 N . N Y -0.187292531 36.30259883 0.752817875 23.1 . . POU2F3 11 120236640 120319944 N . N Y 0.045452123 53.0242519 0.002888395 60.5 . . POU3F4 X 83508250 83512127 N . N Y 0.019921484 51.06789373 0.720490939 24.1 DM Deafness, X-linked 2, 304400 (3) POU4F2 4 146638893 146642474 N . N Y -0.219065877 34.38675696 0.180133326 39.3 . . POU4F3 5 146339024 146340520 N . N Y -0.387960287 25.05064537 0.721115139 24 DM Deafness, autosomal dominant 15, 602459 (3) POU5F1B 8 127414290 127420069 N . N N 0.944073763 91.90831742 7.27E-07 83.1 DP . POU5F2 5 93734806 93741637 N . N Y -0.647852776 15.44828385 0.001008753 64.7 . . POU6F1 12 51186936 51217693 N . N N -0.189206557 36.19841408 0.907559367 17.5 . . POU6F2 7 38977998 39493095 N . N Y -0.080033468 43.6186838 0.000369076 68 DM? {Wilms tumor susceptibility-5}, 601583 (3) PP2672 1 234757621 234760056 N . N N . . . . . . PP2D1 3 19979961 20012330 N . N N . . . . . . PPA1 10 70202830 70233911 N . N N -0.136685385 39.64229901 0.002556402 61 . . PPA2 4 105369077 105474081 N . N N 0.297684879 70.38258957 9.23E-06 78.3 . . PPAN 19 10106289 10111634 N . N N 0.236048768 66.56826995 1.17E-08 88.7 . . PPAN-P2RY11 19 10106223 10114780 N . N N 1.150355028 94.51872432 1.17E-08 88.7 . . PPAP2A 5 55424854 55535050 N . N Y -0.392745948 24.81333565 0.799472952 21.7 . . PPAP2C 19 281040 291504 N . N Y 0.330566867 72.36788794 0.002860745 60.6 . . PPAPDC1A 10 120456954 120589855 N . N N -0.287703102 30.21357875 0.184092341 39.2 . . PPAPDC1B 8 38263130 38269243 N . N N 0.179399332 63.14753719 3.07E-07 84.5 . . PPAPDC2 9 4662315 4665258 N . N N -0.225764638 33.98159403 0.810402577 21.3 . . PPAPDC3 9 131289694 131309262 N . N N -0.246359639 32.67349656 0.810567266 21.3 . . PPARA 22 46150521 46243756 N . N Y -0.112110344 41.35555941 0.463829864 31 DM? {Hyperapobetalipoproteinemia, susceptibility to} (3) PPAT 4 56393362 56435615 N . N N -0.49124353 20.54754876 0.994564413 8.6 DP . PPBP 4 73987038 73988197 N Viable N Y 0.147473793 60.82653238 0.267236204 36.6 . . PPCDC 15 75023555 75117462 N . N N 0.105325255 57.63153325 0.000879601 65.2 . . PPCS 1 42456117 42473385 N . N N 0.0931893 56.64756613 0.003536336 59.7 . . PPDPF 20 63520724 63522206 N Viable N Y -0.094538075 42.4726515 0.000225837 69.4 . . PPEF1 X 18675909 18827921 N . N Y 0.026619 51.54251317 0.984407236 11 . . PPEF2 4 75859864 75902571 N . N Y 0.903185945 91.14429588 7.34E-10 91.3 . . PPFIA1 11 70270700 70384403 N . N N -0.901435329 9.561845228 0.999999874 1.2 . . PPFIA2 12 81257975 81759553 N . N N -1.101588124 6.540487353 0.999975972 2.9 . . PPFIA3 19 49119389 49151026 N . N N -1.353045932 4.28315101 0.999999595 1.4 . . PPFIA4 1 203026498 203078740 N . N N -0.200232492 35.49227296 0.001515533 63 . . PPFIBP1 12 27523431 27695564 N . N N -0.812481477 11.33877409 2.10E-12 95 . . PPFIBP2 11 7513298 7657127 N . N N -0.399649431 24.44290097 1.42E-18 98.3 . . PPIAL4A 1 120889746 120890405 N . N N . . 0.377823123 33.4 . . PPIAL4C 1 149583865 149584464 N . N N . . . . . . PPIAL4D 1 145241630 145242124 N . N N . . . . . . PPIAL4E 1 144372875 144373659 N . N N . . . . . . PPIAL4F 1 144592868 144593527 N . N N . . . . . . PPIAL4G 1 148479824 148483679 N . N N 0.928110403 91.68837182 0.606751613 27.3 . . PPIB 15 64155812 64163205 N . N Y -0.387157394 25.09116166 0.010651528 54.7 DM Osteogenesis imperfecta, type IX, 259440 (3) PPIC 5 123023250 123036741 N . N N 0.885812789 90.84331771 0.000967993 64.9 . . PPID 4 158709134 158723396 N . N N 0.071637002 55.02112635 1.71E-06 81.6 . . PPIE 1 39692182 39763914 N . N N 0.016245619 50.75533947 0.98080984 11.6 . . PPIF 10 79347469 79355337 N . N Y 0.618410947 84.71956937 0.005186213 57.9 . . PPIG 2 169584340 169641406 N . N N -0.943201879 8.820975864 0.984147329 11.1 DP . PPIH 1 42658425 42676758 N . N N -0.087991978 42.95305898 0.004755027 58.3 . . PPIL1 6 36854827 36875024 N . N N -0.063568931 44.88047693 0.013003976 53.8 . . PPIL2 22 21652270 21700015 N . N N -0.253710318 32.23939341 0.027492987 50.1 . . PPIL3 2 200870907 200889303 N . N Y 0.184989352 63.48903166 0.549646605 28.6 . . PPIL4 6 149504733 149546038 N . N N -0.298880801 29.53637784 1.68E-05 76.7 . . PPIL6 6 109390215 109441171 N . N N -0.249230788 32.49406726 6.30E-08 86.7 . . PPIP5K1 15 43533462 43590253 N . N N . . 0.102604913 42.9 . . PPIP5K2 5 103120149 103212799 N . N N -1.773310843 2.268912427 4.05E-10 91.9 . . PPL 16 4882507 4960741 N . N Y 2.13470006 98.76135903 1.08E-25 99.4 . . PPM1A 14 60245752 60299087 N Viable N Y -0.494115743 20.42599988 0.985449561 10.9 . . PPM1E 17 58755869 58985176 N . N N -0.559574726 17.94871795 0.973416929 12.6 . . PPM1H 12 62643982 62935037 N . N N -0.184421636 36.49360421 0.855024041 19.7 . . PPM1J 1 112709994 112715477 N Viable N Y 1.099885788 93.93413208 2.31E-07 85 . . PPM1L 3 160755602 161078907 N . N Y -0.264236856 31.60849685 0.570549299 28.2 . . PPM1M 3 52245793 52250597 N . N N 0.477760474 79.6550327 0.092328926 43.6 . . PPM1N 19 45488777 45502510 N . N N . . 0.000104897 71.7 . . PPOX 1 161166410 161178013 N . N N 0.029489373 51.73930659 0.32833176 34.9 DM Porphyria variegata, 176200 (3) PPP1CA 11 67398183 67421183 N . N N -0.689198868 14.227007 0.941508636 15.5 . . PPP1CC 12 110719680 110742939 N . N Y -0.224004258 34.09156682 0.944905081 15.2 . . PPP1R11 6 30066709 30070333 N . N N -0.03642736 46.82525901 0.78308701 22.2 . . PPP1R12B 1 202348699 202592706 N . N N 0.407970442 76.24587602 0.124454642 41.9 . . PPP1R12C 19 55090913 55117559 N . N N 0.135639287 59.89465764 0.462120927 31.1 . . PPP1R13B 14 103733752 103847590 N . N Y -1.383747819 4.045841292 0.976929374 12.2 . . PPP1R14A 19 38251237 38256591 N . N N 0.517999482 81.17149968 0.287406517 36 . . PPP1R14B 11 64244480 64246941 N . N N 0.0545666 53.67251259 0.709204424 24.4 . . PPP1R14D 15 40815445 40828709 N . N N 0.064939857 54.54650692 0.030341653 49.6 . . PPP1R15A 19 48872392 48876057 N . N Y 1.485773838 96.89760954 3.34E-09 90 . . PPP1R16A 8 144477969 144502121 N . N N 0.047365707 53.22683336 0.047670337 47.3 . . PPP1R16B 20 38805705 38923024 N . N Y -0.772536783 12.12015975 0.99853694 6.5 . . PPP1R17 7 31686715 31708455 N . N N 0.640921144 85.36783006 0.000392906 67.8 . . PPP1R18 6 30676389 30687895 N . N N 0.260319777 68.05579672 0.121201533 42 . . PPP1R1A 12 54575387 54588659 N . N Y -0.033556726 47.03941657 0.008576141 55.5 FP . PPP1R1B 17 39626740 39636626 N . N Y 0.073399639 55.17740348 0.082106282 44.3 . . PPP1R1C 2 181954241 182131398 N . N N 0.189623012 63.7437055 0.002533589 61.1 . . PPP1R2 3 195514425 195543386 N . N N 0.103411903 57.457892 0.042709257 47.9 . . PPP1R21 2 48440598 48515391 N . N N -0.868829287 10.221682 0.0004021 67.7 . . PPP1R26 9 135479079 135488893 N . N N 1.109174062 94.04410488 0.985547303 10.8 . . PPP1R27 17 81833492 81835050 N . N N -0.132053341 39.94906523 0.001955162 61.9 . . PPP1R32 11 61481120 61490931 N Viable N Y 1.186254599 94.92967529 2.68E-07 84.7 . . PPP1R36 14 64549902 64589380 N . N N 1.249008108 95.42165885 2.77E-07 84.7 . . PPP1R37 19 45091396 45148077 N . N N . . . . . . PPP1R3A 7 113876777 114075920 N . N Y 1.200786712 95.01070788 6.59E-07 83.2 DM Insulin resistance, severe, digenic, 604367 (3) PPP1R3B 8 9136255 9151574 N . N N 0.269585727 68.68669329 0.022919141 51 . . PPP1R3D 20 59936668 59940297 N . N N -0.180746515 36.69039764 0.067765274 45.2 . . PPP1R3E 14 23295643 23302848 N . N N . . . . . . PPP1R3F X 49269843 49301461 N . N N 0.318430612 71.66753487 0.004749429 58.3 . . PPP1R3G 6 5084581 5089487 N . N N . . . . . . PPP1R42 8 66964099 67056604 N . N N 0.057436789 53.89824622 0.012746531 54 . . PPP1R7 2 241149576 241183652 N . N N -0.095342599 42.403195 0.840144247 20.3 . . PPP1R9A 7 94907202 95296415 N . N Y -0.209199526 34.97713723 0.051340412 46.9 . . PPP1R9B 17 50133735 50150630 N Viable N Y . . 0.997286914 7.4 . . PPP2CB 8 30774457 30814314 N . N Y 0.003958565 49.8061006 0.622505955 26.9 . . PPP2R1B 11 111726908 111766427 N Viable N Y 0.150645248 61.03490189 2.19E-07 85 DM? Lung cancer, 211980 (3) PPP2R2A 8 26291491 26372680 N . N N -0.062612024 44.95572148 0.959642692 14 . . PPP2R2B 5 146581146 147084784 N Viable N Y -0.638435006 15.72032182 0.900682517 17.8 DM Spinocerebellar ataxia 12, 604326 (3) PPP2R2C 4 6320578 6563600 N . N N -0.927391577 9.098801875 0.564450095 28.3 DM . PPP2R2D 10 131900644 131959834 N . N N . . . . FP . PPP2R3A 3 135965673 136147891 N . N N 0.316174739 71.48231753 0.920487875 16.7 . . PPP2R3B X 333963 386955 N . N N 0.553245899 82.56062974 1.71E-09 90.7 . . PPP2R3C 14 35085467 35122517 N . N N -0.299837855 29.4611333 8.06E-07 82.9 . . PPP2R5A 1 212285537 212361863 N . N N -0.59165691 16.97053887 0.899520424 17.8 . . PPP2R5B 11 64917553 64934473 N . N N -0.678823093 14.52219714 0.932458812 15.9 . . PPP2R5E 14 63371357 63543374 N . N N -0.500661427 20.13080975 0.999433464 5.3 . . PPP3CA 4 101023409 101348278 N . N Y -0.559729217 17.94292991 0.998148789 6.8 . . PPP3CB 10 73436428 73496024 N . N Y -0.266151109 31.49273601 0.999703649 4.6 . . PPP3CC 8 22440819 22541142 N . N N -0.167501818 37.55860392 0.016624643 52.6 . . PPP3R2 9 101591615 101595001 N Viable N Y 0.444878869 78.09226139 0.047665504 47.3 . . PPP4R1 18 9546791 9615240 N . N N 0.071939875 55.03849048 0.998557752 6.5 . . PPP4R3A 14 91457611 91510554 N . N N . . . . . . PPP4R3B 2 55547292 55618880 N . N N . . . . . . PPP4R4 14 94146128 94279735 N . N N -0.670059681 14.75371882 0.005674255 57.5 . . PPP5D1 19 46480796 46601200 N . N N . . 0.039345023 48.4 . . PPP6R1 19 55229780 55258995 N . N N -0.127770995 40.21531516 0.997854506 7 . . PPP6R2 22 50343304 50445090 N . N N -0.007571173 48.82792151 0.718789474 24.1 . . PPP6R3 11 68460731 68615334 N . N N -1.164487547 5.950107079 0.995714714 8.1 . . PPT1 1 40072705 40097703 N . N Y -0.284831791 30.36985588 3.75E-05 74.6 DM Ceroid lipofuscinosis, neuronal, 1, 256730 (3) PPT2 6 32153441 32163680 N Viable N Y 0.30327499 70.71250796 0.772683335 22.5 . . PPT2-EGFL8 6 32153845 32171978 N . N N . . . . . . PPTC7 12 110533245 110583320 N . N N -0.10299811 41.92278752 0.354852283 34 . . PPWD1 5 65563236 65587549 N . N N -0.254667152 32.16993691 0.031785775 49.4 . . PPY 17 43940804 43942468 N . N N 0.326593235 72.13057823 0.563418204 28.4 . . PQBP1 X 48897912 48903143 N . N N -0.262476861 31.67216531 0.592844114 27.6 DM Renpenning syndrome, 309500 (3) PQLC1 18 79902420 79951664 N . N N -0.426432699 23.27950454 0.000252469 69.1 . . PQLC2 1 19312326 19329300 N . N N -0.328892939 27.7768131 0.000146809 70.7 . . PQLC2L 3 157543246 157677749 N . N N . . . . . . PQLC3 2 11155198 11178874 N . N N 0.422369205 76.96359322 6.75E-07 83.2 . . PRAC1 17 48721719 48722522 N . N N . . 0.001779923 62.4 . . PRAC2 17 48723168 48724758 N . N N . . . . . . PRADC1 2 73228006 73233238 N . N Y 0.42987242 77.39769636 3.31E-07 84.4 . . PRAF2 X 49071156 49074071 N . N Y 0.365065607 74.12745268 0.651276475 26 . . PRAM1 19 8490056 8503112 N Viable N Y 0.693892116 86.76274816 0.007624896 56.2 . . PRAME 22 22547701 22559361 N . N N 0.167564929 62.36036349 0.000838035 65.4 . . PRAMEF1 1 12791397 12796628 N . N N 5.06355086 99.84951091 0.098105164 43.3 . . PRAMEF10 1 12892896 12898270 N . N N . . 0.875594719 18.8 . . PRAMEF11 1 12824605 12831410 N . N N 3.659584558 99.69323378 0.285437975 36.1 . . PRAMEF12 1 12774841 12777906 N . N N 1.942609363 98.4661689 3.90E-06 80 . . PRAMEF14 1 13342034 13347134 N . N N . . 0.559641613 28.4 . . PRAMEF15 1 13303509 13322598 N . N N . . . . . . PRAMEF17 1 13389632 13392629 N . N N . . 0.790929576 22 . . PRAMEF18 1 13222695 13226133 N . N N . . . . . . PRAMEF19 1 13369067 13371693 N . N N . . 0.583094142 27.9 . . PRAMEF2 1 12857086 12861909 N . N N 5.368222467 99.85529895 0.00056761 66.6 DM? . PRAMEF20 1 13410450 13421328 N Viable N Y . . . . . . PRAMEF25 1 13172455 13179464 N . N N . . . . . . PRAMEF26 1 13060853 13077884 N . N N . . . . . . PRAMEF4 1 12879224 12886201 N . N N 3.212624746 99.61220119 0.074609525 44.8 FTV . PRAMEF5 1 13254212 13263314 N . N N . . . . . . PRAMEF6 1 12938472 13056491 N . N N . . 0.691325858 24.8 . . PRAMEF7 1 12916610 12920482 N . N N . . 0.176862963 39.5 . . PRAMEF8 1 13281035 13285174 N . N N . . . . . . PRAP1 10 133309410 133352683 N . N Y 0.201908627 64.49036291 0.000246549 69.2 . . PRB1 12 11351823 11395566 N . N N 1.120484578 94.19459397 2.09E-05 76.1 FP . PRB2 12 11391540 11501041 N . N N 2.307849016 98.99288071 2.88E-14 96.5 . . PRB3 12 11265924 11269805 N . N N . . 2.57E-07 84.8 DM . PRB4 12 11307083 11310435 N . N N 1.403873224 96.40562598 8.85E-08 86.3 FP . PRCC 1 156750610 156800817 N . N N 0.344616494 73.13190948 0.921293122 16.6 . Renal cell carcinoma, papillary, 605074 (3) PRCD 17 76527586 76553578 N . N N 0.295624092 70.22631244 0.003105096 60.2 DM Retinitis pigmentosa 36, 610599 (3) PRCP 11 82823502 82970584 N . N N -0.494765173 20.40284772 3.34E-08 87.5 DM? . PRDM11 11 45095806 45235124 N . N N -0.371040176 25.82045494 0.942263571 15.4 . . PRDM12 9 130664594 130682981 N . N N -0.387157394 25.09116166 0.29787033 35.8 . Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3) PRDM13 6 99606730 99615578 N . N N 0.404791194 76.08381085 . . . . PRDM14 8 70051651 70071693 N Viable N Y -0.36640817 26.06934074 0.968775953 13.1 . . PRDM15 21 41798225 41879482 N . N N -1.133943071 6.216357006 0.753744615 23 . . PRDM2 1 13700198 13825079 N . N Y -0.366343679 26.07512878 0.995040619 8.4 DM . PRDM4 12 107732866 107761272 N Viable N Y -1.232979569 5.278694218 0.833196848 20.5 . . PRDM5 4 120684919 120922870 N . N N -0.872799944 10.11749725 0.742419321 23.4 DM Brittle cornea syndrome 2, 614170 (3) PRDM7 16 90056566 90092072 N . N N 1.672272373 97.81212016 3.14E-10 92.1 . . PRDM8 4 80183879 80204329 N . N Y -0.214433638 34.65879493 . . DM . PRDM9 5 23507155 23528597 N . N Y 1.63428692 97.65005499 1.95E-22 99.1 DM? . PRDX1 1 45511036 45523047 N . N Y -0.350599275 26.7407536 1.44E-07 85.7 . . PRDX2 19 12796820 12801859 N . N Y 0.066853307 54.65069167 0.496065281 30.1 . . PRDX3 10 119167703 119178833 N . N N -0.219218665 34.36360479 0.221688706 37.9 . . PRDX4 X 23664262 23686399 N . N Y -0.019507464 47.94813914 0.281507845 36.2 DM? . PRDX5 11 64318088 64321811 N . N N 0.545289715 82.23649939 0.003140381 60.1 . . PRDX6 1 173477266 173488807 N . N Y -0.041059779 46.53585692 0.009989768 54.9 . . PREB 2 27130756 27134675 N . N N 0.188965718 63.72634138 0.001898363 62 . . PRELID1 5 177303774 177306959 N . N N 0.300405715 70.5388667 0.865363912 19.3 . . PRELID2 5 145471799 145835369 N Viable N Y -0.003544497 49.14626382 1.73E-05 76.7 . . PRELP 1 203475828 203491352 N Viable N Y 0.439436623 77.86073971 0.003736486 59.3 . . PREPL 2 44316281 44361862 N . N Y -0.342491895 27.13434045 2.43E-11 93.8 DM . PREX1 20 48624252 48827883 N . N Y -1.163009198 5.967471204 0.999999622 1.4 . . PREX2 8 67952118 68237030 N . N Y -1.256877436 5.087688835 1.01E-10 92.9 . . PRF1 10 70597348 70602775 N . N Y 0.133877569 59.74416855 1.40E-07 85.7 DM Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3); Lymphoma, non-Hodgkin, 605027 (3); Aplastic anemia, 609135 (3) PRG2 11 57386794 57390657 N . N Y 0.05935026 54.0603114 1.37E-05 77.2 . . PRG3 11 57376769 57381150 N Viable N Y 0.842702881 90.05614401 0.000177441 70.2 . . PRG4 1 186296279 186314562 N . N Y 0.658948099 85.88875383 0.469279559 30.9 DM . PRH1 12 10824960 11171544 N . N N . . 0.284195071 36.1 . . PRH1-PRR4 12 10845849 11171598 N . N N . . . . . . PRH2 12 10929236 10932341 N . N N 0.732874214 87.64253053 0.595625943 27.5 . . PRICKLE2 3 64093867 64445476 N . N Y -1.814658294 2.164727673 0.987837186 10.4 DM? Epilepsy, progressive myoclonic 5, 613832 (3) PRICKLE3 X 49175264 49186528 N . N N 0.506008393 80.70845633 0.152656461 40.5 . . PRICKLE4 6 41780349 41790141 N . N N 0.506008393 80.70845633 7.01E-06 78.9 . . PRIM1 12 56731596 56752373 N . N N 0.490854514 80.1238641 0.026897939 50.2 . . PRIM2 6 57314805 57646849 N . N N . . 5.15E-08 86.9 . . PRIMA1 14 93718298 93788481 N . N Y -0.171482763 37.26341379 0.367086766 33.7 . . PRIMPOL 4 184649613 184694963 N Viable N Y 0.354183362 73.68177346 2.79E-13 95.7 . . PRKAA1 5 40759379 40798374 N . N Y -0.677865718 14.55113735 0.035101034 48.9 . . PRKAA2 1 56645322 56715335 N Viable N Y -0.524930204 19.22208717 1.44E-05 77.1 DP . PRKAB1 12 119667753 119681630 Y Viable N Y 0.031251654 51.92452393 0.051879133 46.8 . . PRKACB 1 84078062 84238498 N . N Y -0.49315829 20.47809226 0.612478409 27.1 . . PRKACG 9 69012505 69014113 N . N N -0.123440781 40.55680963 0.005058191 58.1 . ?Bleeding disorder, platelet-type, 19, 616176 (3) PRKAG1 12 49002274 49019197 N . N Y -0.371193959 25.80887886 0.001637087 62.7 . . PRKAG2 7 151556111 151877125 N . N N 0.011764461 50.40805695 0.977557429 12.1 DM Wolff-Parkinson-White syndrome, 194200 (3); Cardiomyopathy, hypertrophic 6, 600858 (3); Glycogen storage disease of heart, lethal congenital, 261740 (3) PRKAG3 2 218822383 218832086 N . N Y -0.114829257 41.15876599 9.67E-05 72 DM . PRKAR1B 7 549197 727650 N . N Y -0.169415642 37.44284309 0.0247578 50.5 . . PRKAR2A 3 48744597 48847846 N . N Y 0.403684998 75.99699022 0.983250576 11.2 . . PRKAR2B 7 107044649 107161811 N . N Y -0.457557544 21.97140707 0.995321216 8.3 . . PRKCA 17 66302636 66810743 N . N Y -1.353193626 4.277362968 0.952135908 14.5 . Pituitary tumor, invasive (3) PRKCB 16 23836001 24220611 N . N Y -1.104606377 6.494183018 0.99990807 3.7 FP . PRKCD 3 53156009 53192717 N . N Y -0.58017037 17.3757018 0.997593707 7.2 DM Autoimmune lymphoproliferative syndrome, type III, 615559 (3) PRKCDBP 11 6318946 6320647 N Viable N Y 0.636285654 85.24628118 4.93E-05 73.9 . . PRKCE 2 45651345 46187990 N . N Y -0.631735985 15.8418707 0.999891646 3.8 . . PRKCG 19 53879190 53907652 N . N Y -0.749069701 12.66423569 0.99982368 4.2 DM Spinocerebellar ataxia 14, 605361 (3) PRKCQ 10 6427143 6580301 N . N Y -0.227374171 33.90634948 0.967595406 13.3 . . PRKCZ 1 2050470 2185395 N . N Y -0.885087781 9.874399491 0.266923657 36.6 . . PRKD2 19 46674275 46717127 N . N N -0.959016857 8.583666146 0.999696407 4.7 . . PRKD3 2 37250502 37324808 N . N N -0.545225628 18.37703305 0.008075656 55.9 FTV . PRKG2 4 81087370 81215117 N . N Y -0.458206381 21.95404295 0.449903081 31.4 DM? . PRKRIP1 7 102363872 102426676 N . N N -0.061655126 44.98466169 0.0003948 67.8 . . PRKRIR 11 76349956 76380971 N . N N -0.450703279 22.237657 0.968969189 13.1 . . PRKX X 3604370 3713608 N . N N -0.062612024 44.95572148 0.221428118 38 . . PRL 6 22287244 22297501 N . N Y -0.046649065 46.09017769 0.002641102 60.9 DFP . PRLH 2 237566574 237567175 N . N Y 0.130554386 59.44897841 0.04017093 48.3 . . PRLHR 10 118589989 118595699 N . N Y -0.084968981 43.20194478 0.000426454 67.6 DP . PRLR 5 35048756 35230589 N . N Y 0.392655504 75.49343057 0.916128016 16.9 DFP Multiple fibroadenomas of the breast, 615554 (3); ?Hyperprolactinemia, 615555 (3) PRM1 16 11280836 11281350 N . N Y 0.190579485 63.80158592 0.371061724 33.6 DM? . PRM2 16 11275639 11276480 N . N Y -0.041059779 46.53585692 0.108047166 42.7 DM . PRM3 16 11273218 11273641 N . N Y . . . . . . PRMT2 21 46635167 46665124 N . N Y -0.345660302 26.9606992 0.751420208 23.1 . . PRMT6 1 107056679 107059294 N . N Y -0.593415811 16.91265845 0.024127621 50.7 . . PRMT7 16 68310974 68358563 N . N Y -1.107180261 6.47103085 8.31E-09 89.2 DM . PRMT8 12 3381349 3593973 N . N Y -0.234224724 33.42015396 0.958752744 14.1 . . PRMT9 4 147637785 147684230 N . N N . . . . . . PRND 20 4721910 4728460 N . N Y 0.582806208 83.59668924 0.067796655 45.2 DM . PRNP 20 4686236 4701590 N . N Y 0.046257695 53.10528448 0.029139027 49.8 DM Creutzfeldt-Jakob disease, 123400 (3); Gerstmann-Straussler disease, 137440 (3); Insomnia, fatal familial, 600072 (3); Prion disease with protracted course, 606688 (3); Huntington disease-like 1, 603218 (3); {Kuru, susceptibility to}, 245300 (3); Cerebral amyloid angiopathy, PRNP-related, 137440 (3) PRNT 20 4731282 4740668 N . N N . . 0.105498859 42.8 . . PROB1 5 139390592 139395713 N . N N . . . . . . PROCA1 17 28703197 28711854 N . N N 0.48445544 79.89234242 0.000876151 65.2 FTV . PRODH 22 18912777 18936553 N Viable N Y 1.360761091 96.17989234 4.75E-06 79.6 DM Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3) PRODH2 19 35799988 35813299 N . N N 0.991157255 92.64339874 7.21E-12 94.4 . Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3) PROK1 1 110451200 110457354 N . N N 0.260977174 68.09052498 0.020669166 51.5 DM? . PROK2 3 71771656 71785206 N . N Y 0.107088402 57.71835388 0.270454067 36.5 DM Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3) PROKR1 2 68643589 68658247 N Viable N Y -0.560531745 17.9139897 5.42E-10 91.7 DM? . PROL1 4 70397882 70410194 N . N N 1.009695126 92.88070846 1.28E-06 82.2 . . PROM1 4 15963076 16084378 N . N Y 0.659248124 85.89454188 7.17E-17 97.8 DM Retinitis pigmentosa 41, 612095 (3); Cone-rod dystrophy 12, 612657 (3); Stargardt disease 4, 603786 (3); Macular dystrophy, retinal, 2, 608051 (3) PROM2 2 95274453 95291308 N Viable N Y 0.390091918 75.37188169 7.90E-08 86.4 . . PRORY Y 21382954 21386360 N . N N . . . . . . PROSC 8 37762593 37779767 N . N N 0.044344174 52.90849106 0.297119448 35.8 . . PROSER1 13 39009866 39038076 N . N N -0.501016486 20.10186954 0.736135592 23.6 . . PROSER2 10 11823339 11872277 N . N N . . 0.005463151 57.7 . . PROSER3 19 35758143 35771028 N . N N . . . . . . PROX2 14 74852871 74871940 N . N Y 0.475995728 79.57978816 7.89E-07 83 DM? . PROZ 13 113158654 113172383 N . N Y 0.17491644 62.86392313 3.84E-09 89.9 DM [Protein Z deficiency], 614024 (3) PRPF18 10 13586927 13630868 N . N N -0.303666373 29.26433987 0.099443259 43.2 . . PRPF38A 1 52404564 52420839 N . N N -0.409666664 23.96249349 0.996467619 7.8 . . PRPF38B 1 108692323 108701803 N . N N -0.373911225 25.72784627 0.990908108 9.7 . . PRPF39 14 45084099 45116282 N . N N -0.316758145 28.47137813 0.995121732 8.4 DM? . PRPF4 9 113275343 113292905 N . N N -0.502420818 20.06714129 0.999643089 4.8 . Retinitis pigmentosa 70, 615922 (3) PRPF40A 2 152651593 152717997 N . N N -1.536168599 3.166058922 0.966325783 13.4 . . PRPF40B 12 49568218 49644666 N . N N -1.238431725 5.209237715 0.988653394 10.2 . . PRPF4B 6 4021267 4064983 N . N N -0.802399101 11.50662731 0.999999729 1.3 . . PRPF6 20 63981135 64033100 N . N N -2.037097201 1.562771314 0.280831795 36.2 DM Retinitis pigmentosa 60, 613983 (3) PRPF8 17 1650629 1684882 N . N N -4.745043235 0.104184754 0.999999999 0.6 DM Retinitis pigmentosa 13, 600059 (3) PRPH 12 49293252 49298686 N . N Y -0.621514277 16.14863692 5.05E-10 91.7 DM {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) PRPH2 6 42696600 42722574 N . N Y 0.512555096 80.99207038 0.388059586 33.1 DM Retinitis pigmentosa 7 and digenic, 608133 (3); Leber congenital amaurosis 18, 608133 (3); Macular dystrophy, patterned, 1, 169150 (3); Retinitis punctata albescens, 136880 (3); Choriodal dystrophy, central areolar 2, 613105 (3); Macular dystrophy, vitelliform, 3, 608161 (3) PRPS1L1 7 18026774 18027863 N . N N 0.579127749 83.41725994 . . . . PRPS2 X 12791355 12824222 N . N Y -0.231507329 33.61694739 0.922707345 16.5 . . PRPSAP1 17 76309486 76384521 N . N N -0.626300493 15.98657174 1.97E-10 92.5 . . PRPSAP2 17 18840085 18931287 N . N Y -0.181703531 36.63251722 0.072045202 44.9 . . PRR11 17 59155499 59204705 N . N N 0.640110346 85.33310181 3.72E-06 80.1 . . PRR12 19 49591643 49626439 N . N N -2.287214652 1.146032297 0.999969577 3 . . PRR13 12 53441605 53446645 N . N N 0.190579485 63.80158592 0.634332002 26.5 . . PRR14 16 30650717 30656440 N . N N -0.39148464 24.90015628 0.258591291 36.8 . . PRR14L 22 31676256 31750140 N . N N . . 0.984999167 10.9 . . PRR15 7 29563811 29567295 N . N N -0.03642736 46.82525901 0.446963257 31.5 . . PRR15L 17 47951967 47957878 N Viable N Y 0.328505738 72.23476298 0.481246951 30.5 . . PRR16 5 120464278 120687332 N . N N 0.485263696 79.90970655 0.526199282 29.3 . . PRR18 6 166305300 166308448 N . N N . . 0.488137896 30.3 . . PRR19 19 42302098 42310821 N . N N -0.281960735 30.55507322 0.196398788 38.8 . . PRR20A 13 57140918 57143939 N . N N . . . . . . PRR20B 13 57147488 57150509 N . N N . . . . . . PRR20C 13 57140918 57157082 N . N N . . . . . . PRR20D 13 57160632 57163653 N . N N . . . . . . PRR20E 13 57167197 57170218 N . N N . . . . . . PRR21 2 240041813 240042982 N . N N . . 0.003652752 59.5 . . PRR22 19 5782960 5784765 N . N N 0.37749856 74.80465359 0.020640559 51.5 . . PRR23A 3 139005468 139006268 N . N N -0.002587674 49.23887249 0.018079935 52.2 . . PRR23B 3 139019031 139020926 N . N N 0.637241741 85.28100943 0.00253402 61.1 . . PRR23C 3 139042102 139044892 N . N N 0.247883787 67.32650344 0.000636018 66.3 . . PRR23D1 8 7539628 7542450 N . N N . . . . . . PRR23D2 8 7778591 7781413 N . N N . . . . . . PRR25 16 805443 813861 N . N N 0.923475384 91.58997511 3.13E-06 80.5 . . PRR26 10 649948 669581 N . N N . . . . . . PRR27 4 70133616 70176799 N . N N . . . . . . PRR29 17 63998351 64004304 N . N N . . . . . . PRR3 6 30556886 30563723 N . N N 0.406406543 76.17063148 0.114320039 42.4 . . PRR30 2 27136848 27139410 N . N N . . . . . . PRR32 X 126819764 126821786 N . N N . . . . . . PRR33 11 1889145 1890854 N . N N . . . . . . PRR34 22 46049478 46054144 N . N N . . . . . . PRR35 16 560422 565528 N . N N . . . . . . PRR36 19 7868719 7874379 N . N N . . . . . . PRR4 12 10845849 11171613 N . N N 0.072442927 55.09058286 1.03E-05 78 . Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3) PRR5 22 44668547 44737681 N . N N 0.192792725 64.00416739 0.972989445 12.7 . . PRR5-ARHGAP8 22 44702233 44862784 N . N N 3.309663093 99.64692944 . . . . PRR5L 11 36296288 36465204 N . N N 0.362492381 74.04063205 0.078768861 44.5 . . PRR7 5 177446445 177456286 N . N N . . 0.724989126 23.9 . . PRR9 1 153217584 153219317 N . N N . . . . . . PRRC1 5 127517609 127555089 N . N N 0.288418427 69.82114951 2.13E-05 76.1 . . PRRC2A 6 31620720 31637771 N . N N 0.089293016 56.35816403 1 0.3 DP . PRRC2B 9 131394093 131500197 N . N N -1.763181062 2.297852636 0.999999104 1.7 . . PRRC2C 1 171485551 171593511 N . N N -2.104039105 1.452798518 1 0.3 . . PRRG1 X 37349275 37457295 N . N N 0.427960039 77.28193552 0.335254587 34.8 . . PRRG2 19 49580646 49591015 N . N N 0.526458794 81.4782659 5.97E-05 73.4 . . PRRG3 X 151695124 151705924 N . N N 0.713231642 87.23157956 2.07E-05 76.1 . . PRRG4 11 32829943 32858123 N . N N 0.444878869 78.09226139 0.181401743 39.3 . . PRRT1 6 32148359 32154373 N . N N 0.069572814 54.86484922 0.40794573 32.6 . . PRRT2 16 29811382 29815892 N . N N 0.316517317 71.52862187 0.301735693 35.7 DM Episodic kinesigenic dyskinesia 1, 128200 (3); Seizures, benign familial infantile, 2, 605751 (3); Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) PRRT3 3 9945542 9952394 N . N N -0.538827354 18.63170689 0.658018522 25.8 . . PRRT4 7 128350325 128361685 N . N N . . . . . . PRRX2 9 129665641 129722674 N . N Y 0.073399639 55.17740348 0.305924077 35.6 . . PRSS1 7 142749468 142763997 N Viable N Y 2.70172362 99.31701106 0.001220295 63.9 DM Pancreatitis, hereditary, 167800 (3); Trypsinogen deficiency, 614044 (1) PRSS12 4 118280038 118353003 N . N Y -0.278789029 30.69398622 4.55E-18 98.2 DM Mental retardation, autosomal recessive 1, 249500 (3) PRSS16 6 27247701 27256624 N . N Y -0.348531035 26.86230248 2.24E-06 81.1 . . PRSS2 7 142748662 142774564 N . N N . . . . DFP {Pancreatitis, chronic, protection against}, 167800 (3) PRSS21 16 2817180 2826304 N . N Y 0.025662211 51.48463275 3.27E-07 84.4 . . PRSS22 16 2852727 2858170 N . N N -0.17883254 36.80037043 0.015476364 53 . . PRSS23 11 86791059 86952910 N . N N -0.015528497 48.24911732 1.27E-06 82.3 . . PRSS27 16 2712418 2720551 N . N Y 0.751704862 88.11136193 8.69E-07 82.8 . . PRSS3 9 33750466 33799231 N . N N 2.402244626 99.09127742 4.80E-10 91.8 . . PRSS33 16 2783953 2787948 N . N N . . 0.000160244 70.4 . . PRSS35 6 83512538 83525704 N . N N -0.256580891 32.10626845 1.34E-06 82.2 . . PRSS36 16 31138925 31150094 N . N N -0.090406755 42.76784164 4.42E-13 95.6 . . PRSS37 7 141836286 141841487 N . N Y 0.401772227 75.92174567 0.001727085 62.5 . . PRSS38 1 227815693 227846470 N . N N 1.115849909 94.13671355 0.030266614 49.6 . . PRSS42 3 46829542 46834095 N . N N 0.156890071 61.50952133 4.68E-05 74.1 . . PRSS45 3 46742092 46812558 N . N N 1.061266122 93.50581698 8.78E-05 72.3 . . PRSS46 3 46719583 46736429 N . N N . . . . . . PRSS48 4 151277171 151291453 N . N N 0.549114755 82.41014065 0.000223314 69.4 . . PRSS50 3 46712116 46812574 N . N Y 1.082965441 93.77785495 2.62E-05 75.5 . . PRSS53 16 31083425 31089628 N . N N 0.777232305 88.74225849 7.27E-11 93.2 DP . PRSS54 16 58279997 58295047 N . N N 0.340939791 72.94090409 4.50E-05 74.2 . . PRSS55 8 10525546 10554166 N . N N 1.350538501 96.11043584 1.23E-08 88.6 . . PRSS56 2 232520463 232525716 N . N Y . . . . DM Microphthalmia, isolated 6, 613517 (3) PRSS57 19 685546 695498 N . N N 0.448703989 78.31799502 1.73E-07 85.4 . . PRSS58 7 142252143 142258058 N . N N 0.153213524 61.2432714 6.16E-05 73.3 . . PRTFDC1 10 24848607 24952604 N . N N 0.227287513 66.09365052 5.28E-09 89.5 . . PRTG 15 55611546 55743090 N . N N -0.351761449 26.6712971 0.019529107 51.8 . . PRTN3 19 840960 848175 N . N N 0.762888245 88.37182381 0.000831489 65.4 . . PRUNE 1 151008420 151035713 N . N Y 0.082010267 55.87196851 0.010761766 54.6 . . PRUNE2 9 76611376 76906087 N . N N 1.678710086 97.83527233 3.68E-12 94.8 . . PRX 19 40393768 40413366 N . N Y 0.476943095 79.62030445 3.70E-11 93.6 DM Dejerine-Sottas disease, 145900 (3); Charcot-Marie-Tooth disease, type 4F, 614895 (3) PRY Y 22490397 22514637 N . N N . . . . . . PRY2 Y 22071756 22096007 N . N N . . . . . . PSAPL1 4 7432258 7434945 N . N N 1.602970324 97.51114198 3.34E-11 93.6 . . PSCA 8 142670308 142682724 N . N Y 0.198082641 64.25305319 0.008948427 55.4 DFP . PSD 10 102402617 102421539 N . N N -0.295560131 29.69265497 0.987334022 10.5 . . PSD2 5 139795821 139844466 N . N N 0.071135056 54.95166985 0.180222827 39.3 . . PSD3 8 18527301 19084730 N . N N -0.049569127 45.77762343 0.851705649 19.8 . . PSD4 2 113157325 113209396 N . N N -0.112614802 41.26295074 0.80549607 21.4 . . PSEN2 1 226870184 226896105 N . N Y -0.049216095 45.88759623 0.027014182 50.2 DM Alzheimer disease-4, 606889 (3); Cardiomyopathy, dilated, 1V, 613697 (3) PSG1 19 42866464 42879822 N . N N 2.796946662 99.37489147 3.44E-12 94.8 . . PSG11 19 43007656 43026512 N . N N 1.196629346 94.98176767 7.20E-09 89.3 . . PSG2 19 43064211 43083045 N . N N 0.918993216 91.48579036 6.19E-07 83.4 FTV . PSG3 19 42721638 42740569 N . N N 2.048808898 98.64559819 2.31E-12 95 . . PSG4 19 43192702 43207299 N . N N 2.031879096 98.61665798 7.90E-10 91.3 . . PSG5 19 43166256 43186536 N . N N 2.290751624 98.97551658 1.21E-10 92.8 . . PSG6 19 42902079 42919563 N . N N 3.787464235 99.72217399 2.97E-09 90.1 . . PSG7 19 42906822 43082671 N . N N . . . . . . PSG8 19 42752686 42855691 N . N N 2.117319343 98.74978295 1.93E-10 92.5 . . PSG9 19 43211791 43269530 N . N N 2.446633676 99.14915784 2.75E-14 96.5 . . PSKH1 16 67893272 67929678 N . N Y -0.265997742 31.51588818 0.017874205 52.2 . . PSKH2 8 86048373 86088621 N . N N 1.02293544 93.08328992 1.74E-07 85.4 . . PSMA1 11 14504874 14643635 N . N N -0.198623704 35.57909359 0.947988405 15 . . PSMA2 7 42916857 42932223 N . N N -0.284986118 30.32933958 0.937474829 15.8 . . PSMA3 14 58244831 58272012 N . N N -0.177071645 36.92770736 0.990281922 9.9 . . PSMA4 15 78540405 78552419 N . N N -0.299035003 29.50743763 0.62042359 26.9 . . PSMA5 1 109399031 109426427 N . N N -0.043930449 46.31591133 0.974255885 12.5 . . PSMA6 14 35278633 35317493 N . N N -0.224004258 34.09156682 0.94398764 15.3 DFP {Myocardial infarcation, susceptibility to}, 608446 (3) PSMA7 20 62136735 62143440 N . N N -0.275568538 30.94287203 0.965751461 13.4 DM? . PSMA8 18 26133852 26193355 N . N N 0.067810037 54.72014817 0.003979648 59.1 . . PSMB1 6 170535117 170553341 N . N N -0.190163599 36.15789778 0.718811352 24.1 . . PSMB10 16 67934502 67937087 N . N Y -0.134771456 39.75805985 2.34E-05 75.8 . . PSMB11 14 23042167 23044276 N . N Y 0.73397582 87.68304683 0.017139131 52.4 . . PSMB2 1 35599544 35641844 N . N N 0.003958565 49.8061006 0.972351383 12.8 . . PSMB3 17 38752736 38764231 N . N N -0.101084162 42.05591248 0.697590277 24.7 . . PSMB4 1 151399534 151401944 N . N N -0.462188395 21.78618973 0.398813285 32.8 . . PSMB5 14 23016543 23035230 N . N N -0.115133273 41.12403774 0.758964107 22.9 . . PSMB6 17 4796144 4798503 N . N N 0.172852824 62.72501013 0.14318639 40.9 . . PSMB7 9 124353466 124415444 N . N N -0.114176312 41.19928228 0.941261763 15.5 . . PSMB8 6 32840717 32844703 N . N Y 0.009699407 50.29229612 0.012003172 54.2 DM Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3) PSMB9 6 32844136 32859585 N . N Y 0.48335126 79.84025004 0.225647028 37.8 DFP . PSMC2 7 103344254 103369395 N . N N -0.387157394 25.09116166 0.999210833 5.7 . . PSMC3IP 17 42572315 42577831 N . N Y 0.158803293 61.65422238 0.000192545 69.9 DM Ovarian dysgenesis 3, 614324 (3) PSMC5 17 63827152 63832026 N . N N -0.395617806 24.63390635 0.969571425 13 . . PSMC6 14 52707172 52728587 N . N N -0.388114712 25.02170516 0.995511977 8.2 . . PSMD1 2 231056864 231172827 N . N N -0.821232546 11.15355675 0.999999203 1.6 . . PSMD10 X 108084207 108091618 N . N N 0.207498734 64.86658563 0.403603163 32.7 . . PSMD11 17 32444261 32483318 N . N N -0.840223104 10.7599699 0.999745809 4.5 . . PSMD12 17 67337916 67366627 N . N N -0.45372795 22.13347225 0.997267742 7.4 . . PSMD13 11 236546 252984 N . N N -0.054957051 45.47085721 0.993513212 9 . . PSMD2 3 184298709 184309054 N . N N -0.521907714 19.37257626 0.999997116 2 . . PSMD3 17 39980797 39997960 N . N N -0.772536783 12.12015975 0.999288335 5.5 . . PSMD5 9 120815496 120842984 N . N N -0.027663999 47.45615558 1.27E-05 77.5 . . PSMD6 3 64010549 64024010 N . N N -0.080336605 43.59553163 0.962085715 13.7 . . PSMD8 19 38374536 38383824 N . N N . . 0.176154541 39.5 . . PSMD9 12 121888731 121918297 N . N N 0.712275627 87.20263935 3.78E-05 74.6 . . PSME1 14 24136158 24138967 N . N Y -0.053195214 45.56346588 0.050880833 46.9 . . PSME2 14 24143362 24147570 N . N Y 0.224417956 65.88528101 0.108796042 42.7 . . PSME3 17 42824385 42843758 N . N Y -0.260562407 31.82844244 0.988103823 10.4 . . PSME4 2 53864067 53970840 N . N Y -2.835414016 0.688776987 0.999999997 0.7 . . PSMG2 18 12658043 12725740 N . N N 0.219784433 65.64218325 0.00355676 59.6 . . PSMG3 7 1567330 1571005 N . N N 0.1249645 59.10748394 0.194253225 38.9 . . PSMG4 6 3231403 3303373 N . N N . . . . . . PSORS1C1 6 31114750 31140092 N . N N 0.8210057 89.54100828 0.000855356 65.3 DP . PSORS1C2 6 31137536 31139350 N . N N 0.92796837 91.67679574 0.104502853 42.9 FTV . PSPC1 13 19674752 19783019 N . N N -0.688086328 14.26173525 0.99260702 9.3 . . PSPN 19 6375148 6379058 N . N Y . . 0.007741412 56.1 DM . PSRC1 1 109279556 109283186 N . N N 0.514468098 81.0499508 1.75E-06 81.6 . . PSTK 10 122954381 122997513 N . N N 0.019116005 51.00422527 0.004110024 59 . . PSTPIP1 15 76993359 77037332 N . N Y 1.673082421 97.8179082 0.00072615 65.8 DM Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3) PSTPIP2 18 45983536 46072272 N . N N -0.181703531 36.63251722 0.107611557 42.7 . . PTAFR 1 28147166 28193936 N . N Y 0.094146026 56.71123459 0.118775353 42.2 DP . PTAR1 9 69709522 69759959 N . N N 0.077226532 55.46680558 0.731558291 23.7 . . PTBP3 9 112217716 112333667 N . N N -0.446070878 22.45181455 0.978776733 12 . . PTCD1 7 99416739 99466163 N . N N 0.801012073 89.17636164 1.78E-09 90.6 DM . PTCD2 5 72320367 72368395 N . N N 0.112022239 58.14666898 3.49E-08 87.4 . . PTCD3 2 86106182 86142157 N . N N -0.427087162 23.23320021 1.03E-06 82.5 . . PTCH2 1 44819844 44843063 N . N Y -0.411645595 23.80621636 6.11E-10 91.6 DM Medulloblastoma, 155255 (3); Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3) PTCHD1 X 23334015 23404372 N Viable N Y -0.733106044 13.06361058 0.947053079 15 DM {Autism, susceptibility to, X-linked 4}, 300830 (3) PTCHD2 1 11479166 11537584 N . N N -0.302630439 29.30485617 4.17E-05 74.4 . . PTCHD3 10 27398187 27414368 N . N N 1.083434648 93.78364299 6.38E-11 93.2 DM? . PTCHD4 6 47878028 48068689 N . N N -1.838949534 2.101059212 0.002760598 60.7 . . PTCRA 6 42915989 42925835 N . N Y 0.331374701 72.39104011 0.011395153 54.4 . . PTDSS1 8 96261715 96336995 N Viable N Y -0.17787558 36.8640389 0.857749192 19.6 . Lenz-Majewski hyperostotic dwarfism, 151050 (3) PTDSS2 11 448268 491399 N . N N -0.590544433 17.03999537 0.000109483 71.6 . . PTER 10 16436943 16513745 N . N N 0.173002985 62.75973838 2.39E-10 92.3 . . PTGDR 14 52267713 52276724 N . N Y 0.37190874 74.50946345 4.02E-05 74.5 DFP {Asthma, susceptibility to, 1}, 607277 (3) PTGDR2 11 60850940 60855971 N . N Y . . 0.184110369 39.2 . . PTGDS 9 136977505 136985435 N . N Y -0.046649065 46.09017769 0.008870389 55.4 DP . PTGER1 19 14472466 14475362 N . N Y . . 0.255749329 36.9 . . PTGER2 14 52314305 52328606 N . N Y -0.358905118 26.34137871 0.105022888 42.8 DFP {Asthma, aspirin-induced, susceptibility to}, 208550 (3) PTGER3 1 70852353 71047808 N . N Y 0.226480797 66.06471031 0.787642829 22 . . PTGES 9 129738331 129753047 N . N Y . . 0.624659347 26.8 . . PTGES2 9 128120693 128128462 N . N Y -0.15536658 38.37471783 2.07E-05 76.1 DP . PTGES3L 17 42968088 42980433 N . N N -0.0579797 45.26827574 0.024744074 50.5 . . PTGES3L-AARSD1 17 42950526 42980528 N . N N 0.402072395 75.92753372 2.57E-08 87.9 . . PTGFR 1 78303884 78539749 N . N Y 0.064133998 54.51756671 0.760040675 22.8 . . PTGFRN 1 116910057 116990358 N . N N 0.016700113 50.79585576 0.638859233 26.4 . . PTGIS 20 49503874 49568146 N . N Y 0.885150795 90.83174162 2.42E-05 75.7 DM Hypertension, essential, 145500 (3) PTGR1 9 111549722 111599855 N Viable N Y 0.025662211 51.48463275 0.044277116 47.7 . . PTGR2 14 73851844 73886827 N . N N 0.168219607 62.41824391 7.20E-07 83.1 . . PTH 11 13492055 13496181 N . N Y -0.066439705 44.63737917 0.270149119 36.5 DM Hypoparathyroidism, autosomal dominant, 146200 (3); Hypoparathyroidism, autosomal recessive, 146200 (3) PTH2 19 49422414 49423441 N . N Y 0.539553608 82.02812988 0.522952192 29.4 . . PTH2R 2 208359714 208854503 N . N N 0.312035841 71.21027956 1.32E-15 97.2 DM? . PTK2B 8 27311482 27459391 N . N Y -1.717782873 2.390461307 0.984520871 11 . . PTK6 20 63528001 63537370 N . N Y 0.777232305 88.74225849 1.18E-07 85.9 . . PTN 7 137227341 137343865 N . N Y -0.081445868 43.46240667 0.289147235 36 . . PTOV1 19 49850735 49860744 N . N N -0.511685065 19.76037507 0.358456527 34 . . PTP4A1 6 63521761 63583587 N . N N -0.194949121 35.83376744 0.889900786 18.2 . . PTP4A2 1 31906421 31944856 N . N Y -0.013918082 48.39381837 0.760772901 22.8 . . PTPDC1 9 94030794 94109856 N Viable N Y 0.735238353 87.74671529 0.002095722 61.7 . . PTPN1 20 50510321 50585241 N . N Y -0.248273713 32.55773572 0.697644969 24.7 DP {Insulin resistance, susceptibility to}, 125853 (3) PTPN13 4 86594315 86815171 N . N Y 1.103211085 93.97464838 5.06E-10 91.7 DP . PTPN18 2 130356007 130375409 N . N N 0.250903275 67.50593274 6.52E-07 83.3 . . PTPN20 10 46911396 47002488 N . N N . . . . . . PTPN21 14 88465778 88554733 N . N N -1.336689741 4.4336401 2.36E-07 84.9 DP . PTPN22 1 113813811 113871759 N . N Y 0.435912819 77.6928865 3.08E-16 97.5 DM {Diabetes, type 1, susceptibility to}, 222100 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3) PTPN3 9 109375466 109498313 N . N Y -0.576050113 17.47988655 0.000188228 70 . . PTPN4 2 119759631 119983818 N . N Y -0.447832968 22.39393413 0.999997516 2 . . PTPN5 11 18727928 18792721 N . N N 0.180657188 63.23435782 0.000777688 65.6 . . PTPN7 1 202147013 202161588 N . N Y 0.144904459 6.06E+01 2.57E-07 84.8 . . PTPRA 20 2864184 3039076 N . N Y -1.204876245 5.52758002 0.999976744 2.9 . . PTPRCAP 11 67435510 67438067 N . N Y 0.565887443 82.91948834 0.770195972 22.6 FP . PTPRD 9 8314246 10612723 N . N Y -3.681409638 0.353070556 0.999999982 0.9 DM . PTPRE 10 127907061 128085855 N . N Y -0.686979096 14.30225155 0.010010042 54.9 . . PTPRF 1 43525187 43623666 N . N Y -3.47851728 0.399374891 0.999998379 1.9 DM ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3) PTPRG 3 61561569 62297613 N . N Y -1.439854822 3.733287029 0.004176573 58.9 . . PTPRH 19 55181248 55209506 N . N N 1.421651412 96.49823465 5.10E-29 99.6 . . PTPRK 6 127968779 128520674 N . N N -1.562911438 2.986629623 0.980388546 11.7 DM? . PTPRM 18 7566782 8406861 N . N Y -2.004799084 1.632227817 0.999958214 3.2 FTV . PTPRN 2 219289623 219309648 N . N Y -0.607975376 16.5190716 0.021748201 51.2 . . PTPRN2 7 157539056 158587788 N . N Y 0.907183475 91.22532847 0.016557153 52.6 . . PTPRO 12 15322397 15597399 N . N Y -1.550761648 3.079238294 0.30462609 35.6 DM Nephrotic syndrome, type 6, 614196 (3) PTPRQ 12 80402178 80680234 N . N Y . . . . DM Deafness, autosomal recessive 84A, 613391 (3) PTPRR 12 70638073 70920843 N . N Y 0.221999681 65.72900388 0.000430476 67.5 . . PTPRT 20 42072752 43189970 N . N Y -1.364803992 4.196330381 0.999998893 1.7 DM? . PTPRU 1 29236516 29326813 N . N N -1.496090285 3.386004515 0.990698956 9.8 . . PTPRZ1 7 121873089 122062036 N . N Y -1.219033498 5.394455056 0.994707963 8.5 . {H. pylori infection, susceptibility to}, 600263 (1) PTRH1 9 127692978 127724873 N . N N 0.150343606 61.02332581 0.001586335 62.9 . . PTRHD1 2 24789734 24793382 N . N N -0.320586962 28.25722058 9.18E-06 78.3 . . PTTG1 5 160421822 160428744 N . N Y -0.275568538 30.94287203 0.169726364 39.7 . . PTTG1IP 21 44849585 44873903 N . N N 0.170939673 62.57452104 0.266254067 36.6 DP . PTTG2 4 37960435 37961125 N . N N 0.438331876 77.80285929 0.001731611 62.4 . . PTX3 3 157436789 157443628 N . N Y 0.341747043 72.9698443 0.0129819 53.9 . . PTX4 16 1485886 1488981 N . N N 3.349721474 99.65271749 1.78E-12 95 . . PUF60 8 143816344 143829859 N . N N -0.768862541 12.2243445 0.849324855 19.9 . Verheij syndrome, 615583 (3) PUM1 1 30931506 31065991 N . N Y -1.477754114 3.472825143 0.999998855 1.8 . . PUM2 2 20248691 20352234 N . N Y -1.888756662 1.927417955 0.999922864 3.6 . . PURB 7 44876293 44885361 N . N N -0.395617806 24.63390635 0.605935033 27.3 . . PURG 8 30995802 31033715 N . N N -0.454685281 22.09295595 0.934741137 15.9 . . PUS1 12 131929200 131945896 N . N N -0.299685249 29.47849742 0.019988423 51.7 DM Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) PUS10 2 60940222 61018259 N . N N -1.026698372 7.518666435 5.27E-10 91.7 . . PUS3 11 125893485 125903221 N . N N 0.342853172 73.02193668 1.09E-05 77.8 . . PUS7 7 105439661 105522267 N . N N -1.130793918 6.245297216 2.17E-05 76 . . PUS7L 12 43718993 43758817 N . N Y 1.784042864 98.14782659 1.57E-06 81.8 . . PUSL1 1 1308567 1311677 N . N N 0.321150679 71.84696417 6.59E-12 94.5 . . PVALB 22 36800684 36819479 N . N Y 0.070529515 54.92272964 0.067870192 45.2 . . PVR 19 44643798 44663583 N . N Y 0.824973219 89.63940499 5.51E-07 83.6 DP . PVRIG 7 100218241 100221490 N . N N 0.518145495 81.19465185 0.001001892 64.7 . . PVRL1 11 119623408 119729084 N . N Y -0.085622968 43.1498524 0.503155896 29.9 DM Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3); Orofacial cleft 7, 225060 (3) PVRL2 19 44846175 44889228 N . N Y 0.662769054 86.01030271 0.531937435 29.1 . . PVRL3 3 111070071 111275563 N . N Y -0.326978896 27.91572611 0.73366099 23.6 DM . PVRL4 1 161070995 161089599 N . N N -0.057675878 45.29142791 0.439337893 31.7 DM Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3) PWP1 12 107685732 107713167 N . N N -0.264083901 31.62007293 1.85E-05 76.5 . . PWP2 21 44107290 44131181 N . N N 1.097652248 93.91676796 0.875422848 18.8 . . PWWP2A 5 160061801 160119423 N . N N -0.615925383 16.32227817 0.920215651 16.7 DM? . PWWP2B 10 132397168 132417863 N . N N 0.351464982 73.46761591 0.716153887 24.2 . . PXDC1 6 3722614 3752026 N Viable N Y 0.020878273 51.13735023 0.550017217 28.6 . . PXDN 2 1631887 1744852 N . N N -1.375053224 4.115297795 2.04E-05 76.2 DM Corneal opacification and other ocular anomalies, 269400 (3) PXDNL 8 51319578 51809445 N . N N 1.375663319 96.26092493 1.94E-27 99.5 . . PXK 3 58332880 58426126 N . N N -0.164631207 37.74960931 0.932144256 16 . . PXMP2 12 132687606 132704991 N . N Y 0.415822269 76.63946287 0.028894308 49.9 . . PXMP4 20 33702754 33720319 N . N N 0.385809542 75.19824044 0.604956427 27.3 . . PXT1 6 36390551 36442889 N . N N 0.017051112 50.83058401 1.32E-05 77.3 . . PXYLP1 3 141228726 141294906 N . N N . . . . . . PYCARD 16 31201485 31203450 N . N Y -0.078575026 43.76338485 0.016503554 52.7 . . PYCR1 17 81932384 81942412 N Viable N Y -0.387003268 25.10852579 0.000359029 68.1 DM Cutis laxa, autosomal recessive, type IIB, 612940 (3); Cutis laxa, autosomal recessive, type IIIB, 614438 (3) PYCR2 1 225919877 225924340 N . N N -0.686326345 14.33119176 0.005062942 58.1 . Leukodystrophy, hypomyelinating, 10, 616420 (3) PYCRL 8 143603913 143609773 N . N N 0.957169041 92.14562713 0.017128414 52.4 DP . PYDC1 16 31215962 31217359 N . N N 0.047063497 53.15737686 0.465269918 31 . . PYDC2 3 191461163 191461456 N . N N . . 0.022170522 51.1 . . PYGB 20 25248069 25298014 N . N N -0.949322941 8.734155235 4.76E-07 83.8 . . PYGL 14 50857891 50944736 N . N N -0.87537728 10.07698096 1.31E-09 90.9 DM Glycogen storage disease VI, 232700 (3) PYGM 11 64746389 64760297 N . N N -0.113571418 41.22822249 2.62E-08 87.8 DM McArdle disease, 232600 (3) PYGO1 15 55538890 55588947 N . N N 0.105475995 57.64310934 0.956651522 14.2 . . PYHIN1 1 158930796 158977054 N . N N 0.615836151 8.46E+01 0.000917068 65.1 . . PYROXD2 10 98383565 98415184 N . N N 1.020369156 93.0254095 8.99E-08 86.2 FTV . PYURF 4 88520985 88523813 N . N N . . . . . . PYY 17 43952738 44004469 N . N Y 0.124007879 59.04381548 0.054416635 46.5 DFP . PZP 12 9148840 9208370 N . N Y 0.318409619 71.64438271 1.35E-21 99 DM? . QARS 3 49095932 49105101 N . N N -0.985207551 8.120622793 8.79E-08 86.3 . Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3) QPCT 2 37344574 37373322 N . N N 0.137401468 60.01041848 1.87E-08 88.2 . . QPCTL 19 45692483 45703989 N . N N 0.272455663 68.8256063 0.00026154 69 . . QPRT 16 29679008 29698699 N . N N 0.547202136 82.32910806 0.593365506 27.6 . . QRFP 9 130892702 130896812 N . N N 1.113793511 94.09619726 0.007623349 56.2 . . QRFPR 4 121329312 121381059 N . N Y 1.7219365 97.96839729 1.87E-12 95 . . QRICH1 3 49029707 49094363 N . N N -0.920691275 9.214562713 0.996069748 7.9 . . QRICH2 17 76274049 76307680 N . N N 0.450932536 78.38745153 1.22E-18 98.4 . . QRSL1 6 106629578 106668417 N . N N -0.120570168 40.6899346 8.78E-05 72.3 . . QSER1 11 32893178 32993316 N . N N -0.679870475 14.49904497 0.999935659 3.4 . . QSOX1 1 180154834 180204030 N . N N 0.172349506 62.67870579 6.78E-05 73 . . QSOX2 9 136206333 136245841 N . N N -0.715079795 13.53244197 0.007830613 56.1 . . QTRT1 19 10701430 10713437 N . N N -0.780040126 12.00439891 0.00022325 69.4 . . QTRTD1 3 114005833 114088422 N . N N -0.213476698 34.71088731 2.19E-05 76 . . R3HCC1 8 23270120 23296279 N . N N . . . . . . R3HCC1L 10 98134624 98244897 N . N N 1.60967978 97.54008219 2.88E-05 75.3 . . R3HDM1 2 135531455 135725270 N . N N -0.927903167 9.08143775 0.00602514 57.2 . . R3HDM2 12 57253762 57431005 N . N N -0.43856779 22.82224923 0.995928589 8 . . R3HDM4 19 896503 913245 N . N N -0.065330609 44.75314001 0.019345311 51.9 . . R3HDML 20 44336986 44351235 N . N N 0.693589967 86.75117208 0.002996175 60.3 . . RAB10 2 26034107 26137454 N . N N -0.082402837 43.40452625 0.944404791 15.2 DM . RAB11A 15 65726054 65891991 N . N N -0.142427542 39.22555999 0.983220857 11.2 . . RAB11B 19 8389981 8404434 N . N N -0.321544247 28.21670429 0.664363643 25.7 . . RAB11FIP1 8 37858618 37899467 N . N N 0.952376215 92.04144238 2.11E-05 76.1 . . RAB11FIP2 10 118004916 118046603 N . N N -0.356991058 26.48029172 0.910707841 17.3 . . RAB11FIP3 16 425619 523011 N . N N -0.306231452 29.11385078 0.996242513 7.9 . . RAB11FIP4 17 31391624 31538217 N . N N -0.652484268 15.30937084 0.993663613 9 . . RAB11FIP5 2 73073382 73156721 N . N Y -0.067897817 44.53898246 0.002675916 60.8 DM . RAB12 18 8609445 8639381 N . N N -0.086078072 43.11512415 0.718356947 24.1 . . RAB13 1 153981617 153986358 N . N N 0.178442775 63.08386873 0.570125705 28.2 . . RAB14 9 121178137 121223014 N . N N 0.053609874 53.60305609 0.973482565 12.6 . . RAB15 14 64945814 64972776 N . N Y 0.346381025 73.21294206 5.21E-06 79.5 . . RAB17 2 237574322 237601614 N . N N 0.326740798 72.14794235 0.00739028 56.4 . . RAB19 7 140404043 140426250 N Viable N Y 0.645701223 85.52410719 4.08E-05 74.5 . . RAB1A 2 65070701 65130106 N . N N 0.023597424 51.32256758 0.602945641 27.4 . . RAB1B 11 66268533 66277492 N . N N 0.04897698 53.33680616 0.751684325 23.1 . . RAB20 13 110523066 110561733 N Viable N Y -0.205169667 35.16235458 0.697708788 24.7 . . RAB21 12 71754874 71800285 N . N N 0.314455675 71.33761648 0.882341696 18.5 . . RAB22A 20 58309696 58367507 N . N N 0.366978017 74.20848527 0.685129848 25 . . RAB24 5 177301198 177303744 N Viable N Y -0.306538083 29.06754645 0.725032093 23.9 . . RAB25 1 156061160 156070514 N . N Y 0.402728595 75.95647392 9.31E-06 78.2 . . RAB26 16 2140803 2154165 N . N N 0.379262743 74.89726226 3.56E-06 80.2 . . RAB27A 15 55202966 55319113 N . N N -0.000674037 49.38936158 8.23E-05 72.5 DM Griscelli syndrome, type 2, 607624 (3) RAB27B 18 54717860 54895516 N Viable N Y 0.211324798 65.16756381 0.6873001 24.9 . . RAB28 4 13361354 13484365 N . N N -0.114176312 41.19928228 0.000997907 64.7 DM Cone-rod dystrophy 18, 615374 (3) RAB29 1 205767986 205775460 N . N Y . . . . . . RAB2A 8 60516857 60623627 N . N N 0.159610371 61.7121028 0.970735513 12.9 DM? . RAB2B 14 21459020 21476973 N . N N -0.374065873 25.71627019 0.000147822 70.7 . . RAB30 11 82973133 83071923 N . N N -0.0579797 45.26827574 0.95912396 14 . . RAB31 18 9708165 9862551 N . N N 0.062069705 54.29762111 0.054033484 46.5 . . RAB33A X 130171649 130184870 N . N N -0.027967398 47.43300341 0.713538247 24.2 . . RAB33B 4 139453232 139476609 N . N N 0.104368575 57.54471262 0.902062769 17.7 DM Smith-McCort dysplasia 2, 615222 (3) RAB36 22 23145326 23164350 N Viable N Y 0.521971277 81.33356486 1.44E-05 77.1 . . RAB37 17 74670578 74747335 N . N N 0.406554426 76.19378364 8.23E-05 72.5 . . RAB38 11 88113242 88175467 N . N N 0.804229247 89.21687793 0.004717618 58.4 . . RAB39A 11 107928503 107963482 N Viable N Y -0.366562778 26.04618857 0.00185649 62.1 . . RAB39B X 155258241 155264589 N . N N -0.059893552 45.10042253 0.715196297 24.2 DM Mental retardation, X-linked 72, 300271 (3); ?Waisman syndrome, 311510 (3) RAB3A 19 18196784 18204074 N . N Y -0.411581382 23.84673265 0.870967555 19 . . RAB3B 1 51907956 51990764 N . N Y -0.160151469 38.02743532 0.15644302 40.3 . . RAB3C 5 58582221 58859394 N . N Y -0.228635876 33.80216473 0.015496264 53 . . RAB3D 19 11322046 11346270 N . N Y 0.387722289 75.27927302 0.001426284 63.2 . . RAB3GAP1 2 135052265 135176394 N . N Y -0.953281124 8.6878509 3.66E-05 74.7 DM Warburg micro syndrome 1, 600118 (3) RAB3GAP2 1 220148293 220272454 N . N N -0.827351086 11.00306766 0.998736483 6.2 DM Martsolf syndrome, 212720 (3); Warburg micro syndrome 2, 614225 (3) RAB3IL1 11 61897301 61920269 N . N N 0.057587761 53.92139839 0.000894541 65.2 . . RAB3IP 12 69738681 69823204 N Viable N Y -0.64402392 15.57562077 0.016752943 52.6 . . RAB40A X 103499750 103519489 N . N N 0.44679135 78.19644614 0.06660882 45.4 . . RAB40AL X 102937250 102938962 N . N N 0.767667839 88.51073682 0.306490452 35.6 DM . RAB40B 17 82654973 82698728 N . N N -0.260408668 31.84580656 0.00383601 59.2 . . RAB41 X 70282093 70285002 N . N N 0.080902701 55.81408809 0.012182153 54.1 . . RAB42 1 28592200 28595443 N . N N 0.160566904 61.79892342 0.002554984 61 . . RAB43 3 129087569 129122801 N Viable N Y 0.071486219 54.9863981 0.341400603 34.5 . . RAB44 6 36697851 36733183 N . N N . . . . . . RAB4A 1 229271062 229305894 N . N N 0.133424212 59.69786421 0.081107904 44.4 . . RAB4B 19 40778216 40796944 N . N N -0.190163599 36.15789778 0.940202326 15.6 . . RAB4B-EGLN2 19 40778242 40808198 N . N N . . . . . . RAB5A 3 19947079 19985175 N Viable N Y -0.260562407 31.82844244 0.774403049 22.5 . . RAB5B 12 55973913 55996683 N . N N 0.140927298 60.26509232 0.215698854 38.2 . . RAB6A 11 73675638 73761137 N . N N -0.224004258 34.09156682 0.87776086 18.7 . . RAB6B 3 133824239 133895836 N . N N -0.321544247 28.21670429 0.893311149 18 . . RAB6C 2 129979664 129982738 N . N N 1.594211366 97.4590496 0.377324685 33.4 . . RAB7A 3 128726122 128814796 N . N Y -0.224961447 34.00474619 0.922269116 16.6 DM . RAB7B 1 205976740 206003461 N . N N . . . . . . RAB8A 19 16111629 16134234 N . N Y -0.155519548 38.35156567 0.962128955 13.7 . . RAB8B 15 63189469 63267782 N . N Y -0.065482771 44.7241998 0.049515248 47.1 . . RAB9A X 13689121 13710506 N . N N 0.001088113 49.55142675 0.779010977 22.3 . . RAB9B X 103822322 103832228 N . N N 0.024554204 51.41517625 0.618182541 27 . . RABAC1 19 41956681 41959390 N . N N -0.215544031 34.54882213 0.07654707 44.7 . . RABEP1 17 5282265 5385812 N . N N -1.228344669 5.330786595 0.982815073 11.3 . . RABEP2 16 28904421 28936526 N . N N -0.2423802 32.90501823 0.002736644 60.7 . . RABEPK 9 125200542 125234158 N . N N 0.68991226 86.66435145 4.19E-06 79.9 . . RABGAP1 9 122940833 123104866 N . N N -0.875521131 10.07119292 0.9999998 1.3 . . RABGAP1L 1 174159410 174995308 N . N N -1.065025053 7.003530706 0.089172714 43.8 . . RABGGTB 1 75786197 75795079 N . N N -0.455642657 22.04665162 0.449469062 31.4 . . RABIF 1 202878957 202889135 N . N N 0.276939876 69.10922035 0.025290257 50.5 . . RABL2A 2 113627229 113643396 N Viable N Y 0.57434681 83.2320426 0.940339178 15.5 . . RABL2B 22 50767501 50783663 N . N N 0.491810698 80.14701626 0.765589454 22.7 . . RABL3 3 120686681 120742993 N . N N -0.379654309 25.47317243 0.136652215 41.3 . . RABL6 9 136807922 136957733 N Viable N Y 0.895525526 91.03432309 0.970513088 13 . . RAC2 22 37225261 37244448 N . N Y -0.202452202 35.31863171 0.87309232 18.9 DM Neutrophil immunodeficiency syndrome, 608203 (3) RAC3 17 82031624 82034204 N . N Y -0.410624002 23.91618915 0.035442249 48.9 . . RAD1 5 34905264 34918989 N . N N -0.234224724 33.42015396 0.000186646 70 . . RAD18 3 8775402 8963773 N . N Y -0.080184792 43.61289576 5.20E-05 73.7 . . RAD21L1 20 1226056 1296421 N Viable N Y . . . . DM? . RAD23A 19 12945855 12953642 N . N Y -0.047454069 46.03229727 0.039256536 48.4 . . RAD51AP1 12 4538798 4560048 N . N N 0.207648094 64.90710193 0.022353284 51.1 . . RAD51AP2 2 17510584 17518439 N . N N 0.320805326 71.80065984 1.70E-18 98.3 . . RAD51L3-RFFL 17 35011349 35121493 N . N N . . 2.24E-05 75.9 . . RAD52 12 912077 990053 N . N N 0.047365707 53.22683336 2.38E-07 84.9 DFP . RAD54B 8 94371960 94475109 N . N Y 0.452833322 78.45111999 8.51E-10 91.2 DM Lymphoma, non-Hodgkin, somatic, 605027 (3); Colon cancer, somatic, 114500 (3) RAD54L 1 46247688 46278473 N . N Y -0.12968435 40.12849453 2.74E-13 95.7 DM {Breast cancer, invasive ductal}, 114480 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3); Adenocarcinoma, colonic, somatic (3) RADIL 7 4797055 4883719 N . N N 0.97567468 92.38872489 1.31E-12 95.2 . . RAET1E 6 149883375 149898102 N . N N 1.070681405 93.63894195 1.86E-05 76.4 . . RAET1G 6 149916878 149923121 N . N N 1.558598886 97.26804422 0.001470729 63.1 . . RAET1L 6 150018334 150025532 N . N N 1.706785413 97.927881 0.00020021 69.8 DP . RAG1 11 36510709 36593156 N . N Y -0.700884049 13.89130057 0.001898001 62.1 DM Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3) RAG2 11 36575574 36598279 N . N Y 0.319387303 71.73699138 0.010519312 54.7 DM Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3) RAI14 5 34656237 34832627 N . N N -0.439224242 22.7759449 0.487656416 30.3 . . RAI2 X 17800049 17861337 N . N N 0.324977012 72.03796955 0.298853667 35.8 . . RALB 2 120240064 120294713 N . N Y -0.178028729 36.84667477 0.193989191 38.9 . . RALBP1 18 9475009 9538116 N . N N -0.771579694 12.14909996 0.670181325 25.5 . . RALGAPA1 14 35538352 35809304 N . N N -1.248419974 5.13399317 0.999999978 0.9 DM . RALGAPA2 20 20389552 20712488 N . N Y 0.254709338 67.73745442 8.49E-06 78.5 . . RALGDS 9 133097720 133149334 N . N Y -1.044282205 7.281356717 0.296706348 35.8 DM . RALGPS1 9 126914774 127223166 N . N N -0.161912646 37.86537015 0.999856881 4.1 . . RALGPS2 1 178725147 178921841 N . N Y -0.432978714 23.05377091 0.922194824 16.6 . . RALY 20 33993646 34108308 N . N N 0.428107326 77.30508769 0.55457384 28.5 . . RALYL 8 84182787 84921844 N . N N 0.143797178 60.51397812 0.029690036 49.7 . . RAMP1 2 237858893 237912114 N Viable N Y 0.028381319 51.66985009 0.057792824 46.2 . . RAMP3 7 45157791 45186302 N . N Y 0.519911514 81.24674423 0.009528751 55.1 . . RAN 12 130871879 130877678 N . N N -0.202452202 35.31863171 0.955937968 14.3 . . RANBP1 22 20115938 20127357 N . N Y -0.20053791 35.44596863 0.336215104 34.7 . . RANBP10 16 67723066 67806652 N . N Y -0.537065264 18.73010361 0.951824229 14.6 . . RANBP17 5 170861870 171300015 N . N N 0.060109127 54.08925161 8.61E-36 99.8 . . RANBP3 19 5916139 5978142 N . N N -1.085771193 6.708340568 0.999905044 3.7 . . RANBP3L 5 36248434 36302114 N . N N 0.188965718 63.72634138 1.13E-10 92.9 . . RANBP6 9 6011043 6015625 N . N N -0.817118947 11.26352955 0.04174251 48.1 DM? . RANGRF 17 8288497 8290092 N . N N -0.099170261 42.1543092 0.02076333 51.4 DM . RAP1GAP 1 21596215 21669363 N . N N -0.629822514 15.88817503 0.974156915 12.5 . . RAP1GAP2 17 2777056 3037739 N . N N -0.714271963 13.55559414 0.955938553 14.3 . . RAP1GDS1 4 98261384 98443861 N . N N -0.42451861 23.36632517 0.824878145 20.8 . Lymphocytic leukemia, acute T-cell (3) RAP2A 13 97434222 97469128 N . N N -0.141470476 39.31238062 0.717339657 24.1 . . RAP2B 3 153162270 153167173 N . N N -0.194949121 35.83376744 0.275476508 36.3 . . RAP2C X 132203024 132219480 N . N N 0.016094318 50.71482318 0.212765647 38.4 . . RAPGEF3 12 47734367 47771040 N . N Y 0.138662337 60.06829889 2.10E-15 97.1 . . RAPGEF4 2 172735274 173052893 N . N Y -0.863237248 10.32586676 0.95722585 14.2 DM? . RAPGEF5 7 22118238 22357144 N . N N 0.222804723 65.81003646 0.997815953 7.1 . . RAPGEF6 5 131423921 131635236 N . N Y -1.903412197 1.85217341 0.998026273 6.9 . . RAPGEFL1 17 40177010 40195656 N . N Y -0.137489868 39.60757076 0.874145904 18.9 . . RAPH1 2 203394345 203535410 N . N Y -0.591871326 16.96475082 0.957851233 14.1 . . RARB 3 25174332 25597932 N . N Y -0.800790903 11.55871969 0.999317519 5.5 . Microphthalmia, syndromic 12, 615524 (3) RARG 12 53210567 53232980 N . N Y -0.45181342 22.19714071 0.970063074 13 . . RARRES1 3 158696892 158732696 N . N N 0.110914976 58.05984835 8.41E-07 82.8 . . RARRES2 7 150338317 150341674 N . N Y 0.282530296 69.45650287 0.002954453 60.4 . . RARRES3 11 63536809 63546462 N . N N -0.131096333 39.98379348 0.000504117 67 . . RASA2 3 141487047 141615342 N . N N -1.287420596 4.786710656 5.32E-17 97.8 . . RASA4 7 102573807 102616757 N . N Y . . 0.661336762 25.7 . . RASA4B 7 102482445 102517781 N . N N . . 0.575646327 28.1 . . RASAL1 12 113098819 113136239 N . N N 0.423778171 77.06198993 4.86E-08 87 . . RASAL2 1 178094141 178484147 N . N Y -0.935269758 8.942524744 0.226449659 37.8 . . RASAL3 19 15451624 15464571 N . N N 0.135639287 59.89465764 8.35E-07 82.8 . . RASD1 17 17494437 17496395 N Viable N Y -0.258648061 31.95577936 0.06071602 45.9 . . RASD2 22 35540868 35554001 N . N Y -0.113219363 41.24558662 0.716620457 24.2 . . RASEF 9 82979585 83063177 N . N N -0.083860557 43.30034149 3.27E-05 75 . . RASGEF1A 10 43194535 43266919 N . N N -0.246359639 32.67349656 0.910096302 17.3 . . RASGEF1B 4 81426393 82044244 N . N N -0.705964203 13.78132778 0.488529662 30.3 DM? . RASGEF1C 5 180100791 180209153 N . N N -0.638435006 15.72032182 0.0033181 59.9 . . RASGRF1 15 78959947 79090773 N . N Y -2.274304906 1.186548591 0.999614037 4.9 . . RASGRF2 5 80960672 81230156 N . N Y -1.2365219 5.243965966 0.998743354 6.2 . . RASGRP1 15 38488103 38565575 N . N Y -0.541697655 18.51594606 0.18967697 39 . . RASGRP2 11 64726911 64745456 N . N Y -0.200232492 35.49227296 0.995280465 8.3 DM? ?Bleeding disorder, platelet-type, 18, 615888 (3) RASGRP3 2 33436324 33564750 N . N Y -0.30431789 29.24697575 0.110282852 42.6 DP . RASGRP4 19 38409051 38426305 N . N Y 1.120633958 94.20617005 0.050117752 47 . . RASL10A 22 29312933 29319679 N . N N . . 0.678377624 25.2 . . RASL10B 17 35731649 35743521 N . N Y -0.018550615 48.01759565 0.036792615 48.7 . . RASL11A 13 27270327 27273690 N . N N 0.036841134 52.32389883 0.007689742 56.1 . . RASL11B 4 52862290 52866835 N . N N -0.347727532 26.88545465 0.290784778 36 . . RASL12 15 65053337 65076690 N . N N 0.053760719 53.61463217 0.006968222 56.6 . . RASSF1 3 50329782 50340980 N . N Y 0.180505995 63.22856977 4.86E-08 87 DFP Lung cancer, 211980 (2) RASSF10 11 13009577 13012106 N . N N . . . . . . RASSF2 20 4780023 4823645 N . N Y -0.034361771 46.9757481 0.000156232 70.5 . . RASSF3 12 64610513 64697567 N . N N 0.167262974 62.32563524 0.001597862 62.8 . . RASSF4 10 44959407 44995891 N . N N 2.176093563 98.81923945 2.05E-11 93.9 . . RASSF5 1 206507530 206589283 N . N Y 0.250753302 67.48856862 0.248711066 37.1 . . RASSF6 4 73571550 73620631 N . N N 0.697415576 86.86114487 1.00E-17 98.1 . . RASSF7 11 560404 564021 N . N N 0.976957029 92.43502923 3.45E-06 80.3 . . RAVER1 19 10316212 10333640 N . N Y -0.039799513 46.63425363 0.982340267 11.4 . . RAVER2 1 64745095 64833232 N . N N -0.934741508 8.954100828 1.86E-06 81.4 . . RAX2 19 3769089 3772221 N . N N . . 0.510132429 29.7 DM ?Macular degeneration, age-related, 6, 613757 (3); Cone-rod dystrophy 11, 610381 (3); ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3) RBAK 7 5045821 5069488 N . N N -0.549050942 18.24390809 0.009676899 55.1 . . RBAK-RBAKDN 7 4983718 5073221 N . N N 0.350059136 73.36343115 0.724663171 23.9 . . RBBP4 1 32651142 32686211 N . N N -0.321544247 28.21670429 0.989804589 10 . . RBBP5 1 205086142 205122015 N . N N -0.666689105 14.82317532 0.995054147 8.4 . . RBBP7 X 16839283 16870414 N . N Y -0.163022609 37.81906581 0.983294258 11.2 . . RBBP8NL 20 62410237 62427533 N . N N 1.107389593 94.01516467 0.007488465 56.3 . . RBBP9 20 18486540 18497243 N . N N 0.452382104 78.42796782 0.103910134 42.9 . . RBCK1 20 407498 430966 N . N Y -0.53897936 18.62591885 0.212094448 38.4 DM Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3) RBFA 18 80034358 80046397 N . N N 0.544480852 82.23071135 0.000358068 68.1 . . RBFOX1 16 6019094 7713338 N . N N -1.236805257 5.232389883 0.935961018 15.8 DM . RBFOX2 22 35738736 36028425 N . N N -0.283874745 30.4277363 0.993206875 9.1 . . RBFOX3 17 79089345 79516148 N . N Y . . . . . . RBKS 2 27781364 27891098 N . N N 0.504095467 80.61584766 1.93E-05 76.3 . . RBM10 X 47144869 47186813 N . N N -0.571863524 17.58407131 0.999912181 3.7 DM TARP syndrome, 311900 (3) RBM11 21 14216130 14228372 N . N N 0.135337478 59.85414134 2.91E-05 75.3 . . RBM12 20 35648925 35664956 N . N N -1.50872789 3.304971928 0.474673921 30.7 . . RBM12B 8 93729356 93741017 N . N N -1.02354245 7.553394687 0.120424619 42.1 . . RBM14 11 66616582 66627347 N . N N -1.104456529 6.49997106 0.98790765 10.4 . . RBM14-RBM4 11 66616626 66646469 N . N N -0.980873791 8.219019506 0.918848169 16.8 . . RBM15B 3 51391268 51397908 N . N N -1.97609561 1.713260404 0.998677124 6.3 . . RBM17 10 6088987 6117457 N . N N -0.652640244 15.29200671 0.998602405 6.4 . . RBM18 9 122237624 122264839 N . N N -0.216501186 34.48515367 0.038009873 48.6 . . RBM20 10 110644397 110839469 N . N N . . . . DM Cardiomyopathy, dilated, 1DD, 613172 (3) RBM22 5 150690794 150701107 N . N N -0.167654501 37.52966371 0.995946456 8 . . RBM23 14 22893206 22919184 N . N N 0.451723315 78.41639173 4.63E-08 87.1 . . RBM24 6 17281346 17293875 N . N N 0.110914976 58.05984835 0.196222354 38.8 . . RBM25 14 73058436 73123898 N . N N -1.24909392 5.122417086 0.999999967 0.9 . . RBM26 13 79311824 79406477 N . N N -1.149479717 6.077444001 0.999996998 2.1 . . RBM27 5 146203600 146289132 N . N N -1.181264419 5.788041905 0.999999942 1 . . RBM28 7 128297685 128343908 N . N N 0.156386559 61.4921572 2.05E-09 90.5 DM ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3) RBM3 X 48574449 48579066 N . N Y 0.076119241 55.36840887 0.700968681 24.6 . . RBM33 7 155644451 155781485 N . N N -0.853822044 10.49950802 0.999967325 3.1 . . RBM34 1 235131183 235161457 N . N N 0.494828508 80.28592927 7.95E-09 89.2 . . RBM38 20 57391407 57409333 N . N Y 0.203821715 64.60033571 0.859282996 19.5 . . RBM4 11 66638617 66666682 N . N Y -0.928349113 9.075649708 0.943908957 15.3 . . RBM41 X 107064420 107118823 N . N N -0.203255573 35.26075129 0.229027555 37.7 . . RBM42 19 35629030 35637686 N . N N -0.519341466 19.49991318 0.759889531 22.9 . . RBM43 2 151247940 151261879 N . N N 0.691677544 86.71065579 0.05186677 46.8 DM? . RBM44 2 237798389 237842808 N . N Y -0.034058751 46.98732419 0.01414988 53.5 . . RBM45 2 178112424 178139011 N . N N -0.36640817 26.06934074 0.000125349 71.2 . . RBM46 4 154781213 154828813 N . N N -0.488371748 20.65173352 0.020362858 51.6 . . RBM47 4 40423267 40630875 N . N N -0.645785708 15.51195231 0.958532355 14.1 . . RBM48 7 92528773 92538005 N . N N 0.125114793 59.14221219 5.12E-05 73.8 . . RBM4B 11 66664998 66677921 N . N Y -0.456445049 22.02349945 0.442246702 31.6 . . RBM5 3 50088908 50119021 N . N N -1.255640729 5.105052961 0.99999947 1.5 . . RBM6 3 49940007 50100045 N . N N -0.852866351 10.5110841 0.999999964 0.9 . . RBM7 11 114400030 114414203 N . N N -0.333678613 27.54529143 0.769935289 22.6 . . RBM8A 1 145917714 145927678 N . N N -0.149930626 38.75094056 0.962186023 13.7 DM Thrombocytopenia-absent radius syndrome, 274000 (3) RBMS2 12 56521929 56596196 N . N N -0.979916263 8.242171673 0.002914798 60.5 . . RBMS3 3 29280982 30010391 N . N N -0.495874865 20.37969555 0.741403241 23.4 . . RBMX X 136848004 136880764 N Viable N Y 1.966744026 98.54141344 0.948299697 14.9 . . RBMX2 X 130401969 130413343 N . N N 0.29385898 70.12212768 0.772803906 22.5 . . RBMXL1 1 88979456 88992960 N . N N 1.017344696 92.97331713 0.119596956 42.1 . . RBMXL2 11 7089027 7090900 N . N N 0.111065501 58.08300052 0.677816821 25.2 DM? . RBMXL3 X 115189427 115192868 N . N N . . . . . . RBMY1A1 Y 21511372 21549326 N . N N . . . . . . RBMY1B Y 21511338 21549094 N . N N . . . . . . RBMY1D Y 21880076 21894526 N . N N . . . . . . RBMY1E Y 21880076 21918067 N . N N . . . . . . RBMY1F Y 22168542 22182982 N . N N . . . . . . RBMY1J Y 22308823 22417881 N . N N . . . . . . RBP1 3 139517434 139539829 N . N Y 0.117461409 58.54604387 0.000490535 67.1 . . RBP2 3 139452884 139480747 N . N Y 0.207498734 64.86658563 0.433554514 31.9 . . RBP3 10 47348371 47357875 N . N Y 0.235870235 66.55669387 0.016654151 52.6 DM ?Retinitis pigmentosa 66, 615233 (3) RBP4 10 93591687 93601744 N Viable N Y -0.092624171 42.6520808 0.578618956 28 DM Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3); Microphthalmia, isolated, with coloboma 10, 616428 (3) RBP5 12 7123684 7128942 N . N N 0.397947105 75.72495225 0.00181921 62.3 . . RBP7 1 9997206 10016020 N . N Y 0.358518573 73.84962667 0.408810206 32.5 . . RBPJL 20 45306851 45317824 N Viable N Y 0.566184045 82.9426405 1.89E-11 94 . . RBPMS 8 30384479 30572261 N . N N -0.108587205 41.55814088 0.783171944 22.2 . . RBPMS2 15 64739892 64775587 N . N N -0.002587674 49.23887249 0.323534851 35 . . RCAN1 21 34513142 34615142 N . N Y 0.12592113 59.20588065 0.557669158 28.5 . . RCAN2 6 46220736 46491972 N . N Y -0.26151962 31.75319789 0.430936968 31.9 . . RCAN3 1 24502351 24541040 N . N N 0.379262743 74.89726226 0.003206422 60 . . RCBTB1 13 49531946 49585583 N . N N -0.921648201 9.191410546 0.000217674 69.6 . [Beta-glycopyranoside tasting] (3); {Alcohol dependence, susceptibility to}, 103780 (3) RCBTB2 13 48488959 48533256 N . N N -0.259299737 31.92683915 7.22E-09 89.3 . . RCC1 1 28505943 28539300 N . N N -0.750983967 12.57162702 0.193943931 38.9 . . RCC2 1 17406760 17439724 N Viable N Y -0.837350249 10.81785032 0.787633127 22.1 . . RCCD1 15 90954870 90963125 N . N N 0.090319161 56.46813683 1.63E-05 76.8 . . RCHY1 4 75479037 75514764 N . N Y -0.290574674 29.99363315 0.823377801 20.8 . . RCL1 9 4792869 4885917 N . N N 0.068917845 54.82433293 0.948080583 15 . . RCN1 11 31812391 32105755 N . N N 0.667255193 86.13763964 0.016338564 52.7 . . RCN2 15 76931619 76954392 N . N N 0.202865163 64.54245529 0.449457627 31.4 . . RCN3 19 49527618 49546962 N . N N 0.570668188 83.09312959 1.78E-09 90.6 . . RCOR2 11 63911221 63916844 N . N Y -0.73230344 13.09255079 0.115753697 42.3 . . RCOR3 1 211258377 211316385 N . N N -0.316758145 28.47137813 0.672007746 25.5 . . RCSD1 1 167630093 167706249 N . N N 0.014483413 50.59906234 0.10822184 42.7 . . RCVRN 17 9896320 9905621 N . N Y 0.136294125 59.95253806 2.96E-07 84.6 . . RD3 1 211476522 211492917 N . N N 0.568755737 83.01209701 0.097516227 43.3 DM Leber congenital amaurosis 12, 610612 (3) RD3L 14 103940426 103942308 N . N N . . . . . . RDH11 14 67676801 67695814 N . N Y -0.277328762 30.80974706 0.009665331 55.1 . ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3) RDH12 14 67701886 67734452 N . N Y 0.163586571 62.05938531 4.71E-06 79.7 DM Leber congenital amaurosis 13, 612712 (3) RDH13 19 55039108 55071291 N . N Y 0.569860199 83.0526133 5.35E-12 94.6 . . RDH14 2 18554723 18560680 N . N N 0.088405766 56.3118597 0.232943493 37.6 . . RDH16 12 56951431 56959374 N . N Y 0.445026606 78.09804943 8.60E-05 72.3 . . RDH5 12 55720367 55724705 N . N Y 0.02757579 51.6293338 3.11E-06 80.5 DM Fundus albipunctatus, 136880 (3) RDH8 19 10013249 10022279 N . N Y -0.014571683 48.31278578 3.73E-05 74.7 . . RDM1 17 35918066 35930773 N . N N 0.539698884 82.04549401 0.005030965 58.1 . . REC114 15 73443158 73560014 N . N N . . . . . . RECQL 12 21468911 21501669 N . N Y 0.100038089 57.21479424 7.14E-13 95.4 . . RECQL5 17 75626845 75667189 N . N Y 0.536641759 81.92973317 3.01E-07 84.5 . . REEP1 2 86213993 86338083 N . N Y 0.140927298 60.26509232 0.938706616 15.7 DM Spastic paraplegia 31, autosomal dominant, 610250 (3); ?Neuronopathy, distal hereditary motor, type VB, 614751 (3) REEP2 5 138439017 138446969 N . N N -0.448139541 22.37657001 0.876388829 18.8 . ?Spastic paraplegia 72, autosomal recessive, 615625 (3); ?Spastic paraplegia 72, autosomal dominant, 615625 (3) REEP3 10 63521363 63625123 N . N N -0.057022786 45.34352029 0.012981299 53.9 . . REEP4 8 22138020 22141951 N . N N 0.465623125 79.12832089 0.175027611 39.5 . . REEP5 5 112876379 112922539 N . N N -0.002587674 49.23887249 0.062887596 45.7 . . REEP6 19 1490747 1497927 N . N N 0.878309149 90.71019274 0.000463082 67.3 . . REG1A 2 79120362 79123419 N . N Y -0.268065472 31.35961104 0.008527628 55.6 . . REG1B 2 79085030 79088019 N Viable N Y 0.339834225 72.85987151 0.001954167 62 . . REG3A 2 79157003 79159753 N . N Y 0.211324798 65.16756381 0.001428607 63.2 . . REG3G 2 79025686 79028505 N . N Y 0.841746956 90.04456792 2.18E-05 76 . . REG4 1 119794018 119811660 N . N N 0.581850138 83.55617295 5.62E-05 73.6 . . REL 2 60881521 60931610 N Viable N Y -0.378543229 25.54262893 0.969516333 13 . . RELL1 4 37590800 37686376 N . N N 0.168219607 62.41824391 0.883550395 18.4 . . RELL2 5 141636950 141641077 N . N N 0.21515114 65.34120507 0.800132421 21.7 . . RELT 11 73376264 73397474 N . N N 0.422667795 76.98674538 1.51E-05 77 . . REM1 20 31475293 31484905 N . N N 0.791134341 89.00272038 1.68E-05 76.8 . . REM2 14 22883165 22887686 N . N N 0.332331078 72.43734445 0.000502406 67 . . RENBP X 153935263 153944691 N . N Y 0.746113675 88.00138913 0.962622292 13.7 . . REP15 12 27696519 27697596 N . N N 0.028381319 51.66985009 0.001398952 63.3 . . REPIN1 7 150368189 150374044 N . N N 0.137401468 60.01041848 0.961996441 13.8 . . REPS1 6 138903493 138988261 N . N N -0.576343288 17.46831047 0.99936361 5.4 . . REPS2 X 16946691 17153280 N . N N -0.381414283 25.35741159 0.968427758 13.2 DM . RER1 1 2391775 2405444 N . N N -0.284028847 30.40458413 0.969239733 13.1 . . RERG 12 15107783 15348675 N . N N -0.047605945 46.02072119 0.001164957 64.1 . . RERGL 12 18080869 18320107 N . N N 1.091281695 93.86467558 5.32E-09 89.5 . . RESP18 2 219327409 219333177 Y Viable N Y . . . . . . RETN 19 7669044 7670454 N . N Y -0.013918082 48.39381837 0.07400279 44.8 DM? {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3); {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3) RETNLB 3 108743424 108757384 N . N Y 0.412953559 76.48897378 0.009947457 54.9 . . RETSAT 2 85342088 85354620 N . N N 1.324353091 95.94837067 2.05E-10 92.4 . . REXO1 19 1815246 1848463 N . N N 0.565860143 82.89633617 0.567927564 28.3 . . REXO4 9 133406059 133418096 N . N N 0.547350629 82.34068415 9.99E-06 78.1 . . RFC2 7 74231499 74254458 N . N N -0.489328961 20.62279331 4.04E-05 74.5 DM . RFC3 13 33818049 33966558 N . N N -0.381414283 25.35741159 0.00098446 64.8 . . RFC4 3 186789880 186807058 N . N N -0.008982334 48.74110089 9.67E-05 72 . . RFC5 12 118013588 118033130 N . N N -0.658228302 15.08363721 0.01471033 53.3 . . RFESD 5 95646754 95684773 N . N N 0.04897698 53.33680616 0.000253688 69.1 . . RFFL 17 35005990 35089319 N . N Y 0.397138302 75.69601204 0.379222205 33.3 . . RFPL1 22 29438583 29442455 N . N N 1.051994066 93.37848006 0.00732601 56.4 . . RFPL2 22 32190435 32203477 N . N N 1.706926614 97.93945708 7.38E-05 72.8 . . RFPL3 22 32354885 32361161 N . N N 1.009841029 92.8864965 0.000158443 70.5 . . RFPL3S 22 32359906 32382052 N . N N . . 0.415441822 32.4 . . RFPL4A 19 55759014 55763175 N . N N . . 0.345800478 34.3 . . RFPL4AL1 19 55769141 55773179 N . N N . . 0.348004808 34.3 . . RFPL4B 6 112347330 112351296 N . N N 0.198231811 64.27620536 0.000430794 67.5 . . RFT1 3 53088483 53130462 N . N N 0.17778674 63.04335243 3.17E-06 80.4 DM Congenital disorder of glycosylation, type In, 612015 (3) RFTN1 3 16313574 16514026 N . N Y -0.089449983 42.83729814 5.14E-12 94.6 . . RFTN2 2 197568224 197676045 N . N N -0.021117842 47.85553047 0.002076962 61.7 . . RFWD3 16 74621394 74666881 N . N N -0.952325474 8.693638942 0.525273499 29.3 . . RFX2 19 5993164 6199572 N . N N -0.28085205 30.59558951 0.989509333 10 DM? . RFX5 1 151340640 151347357 N . N Y -0.653288963 15.26885455 0.000136786 70.9 DM Bare lymphocyte syndrome, type II, complementation group C, 209920 (3); Bare lymphocyte syndrome, type II, complementation group E, 209920 (3) RFX8 2 101397361 101474703 N . N N . . 0.379276472 33.3 DM? . RFXANK 19 19192229 19201869 N . N N -0.125354587 40.43526075 0.000671164 66.1 DM MHC class II deficiency, complementation group B, 209920 (3) RFXAP 13 36819224 36829104 N . N N . . 0.439791637 31.7 DM Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) RGAG1 X 110358816 110456334 N . N N 0.948369538 91.98935 0.912655333 17.1 . . RGAG4 X 72127110 72131901 N . N N 0.83998017 90.00405163 0.01519778 53.1 . . RGCC 13 41457559 41470882 N Viable N Y 0.319090009 71.70805117 0.07039691 45 . . RGL1 1 183636085 183928531 N . N N -1.030375296 7.4723621 0.987846909 10.4 . . RGL2 6 33291654 33299324 N . N N -0.499398226 20.21184233 0.0747683 44.8 . . RGL3 19 11384341 11419342 N . N N 1.069222261 93.61578978 4.36E-21 98.9 . . RGL4 22 23688136 23699176 N . N N 2.016706273 98.59929386 2.33E-10 92.3 . . RGN X 47078355 47093314 N . N Y 0.438331876 77.80285929 0.041645338 48.1 . . RGPD1 2 86907953 87013981 N . N N . . . . . . RGPD2 2 87755955 87825952 N . N N . . . . . . RGPD3 2 106391290 106468376 N . N N 2.910942336 99.46750014 . . . . RGPD4 2 107826937 107890841 N . N N . . . . . . RGPD5 2 109792758 109857695 N . N N . . . . . . RGPD6 2 110513812 110577185 N . N N . . 0.401313701 32.7 . . RGR 10 84245053 84259960 N . N Y -0.024945118 47.60085663 1.56E-06 81.8 DM . RGS1 1 192575727 192580031 N . N Y -0.086078072 43.11512415 0.635710552 26.5 . . RGS11 16 268301 275980 N . N Y 2.01000732 98.58192973 1.26E-09 91 . . RGS12 4 3293028 3439913 N . N Y -0.900110217 9.573421312 0.000560374 66.7 . . RGS13 1 192636138 192660306 N . N Y 0.353884195 73.67019737 9.34E-05 72.1 . . RGS16 1 182598623 182604408 N . N Y 0.44583509 78.14435377 0.009002649 55.3 . . RGS17 6 153004459 153131249 N . N N -0.034513598 46.96996006 0.38068417 33.3 . . RGS18 1 192158457 192185815 N . N N 0.104368575 57.54471262 0.090828367 43.7 . . RGS19 20 64073181 64079988 N . N N -0.334635847 27.50477513 0.879309173 18.6 . . RGS2 1 192809039 192812283 N . N Y 0.658795771 85.87717775 0.002945119 60.4 DM Rieger syndrome, type 2 (2) RGS20 8 53851808 53959303 N . N N 0.078183267 55.57099033 0.016215258 52.7 . . RGS21 1 192316992 192367285 N . N N 0.178442775 63.08386873 0.007405454 56.3 . . RGS22 8 99960936 100131268 N . N N 0.216718658 65.44538982 1.19E-20 98.8 . . RGS3 9 113444731 113597743 N . N N 0.772463095 88.61492157 9.68E-05 72 . . RGS5 1 163111121 163321791 N Viable N Y 0.337921524 72.70938242 0.040499886 48.2 . [Blood pressure regulation QTL], 145500 (2) RGS6 14 71932439 72566529 N . N Y -0.236942655 33.25230075 0.801361183 21.6 FP . RGS7 1 240775514 241357230 N . N Y -0.989334973 8.028014123 0.781745873 22.2 DM . RGS7BP 5 64506257 64612312 N . N Y -0.252102165 32.32621404 0.978832468 12 . . RGS8 1 182641816 182684576 N . N N -0.132053341 39.94906523 0.520349598 29.4 . . RGS9 17 65137431 65227703 N . N Y 0.786804029 88.91589975 2.04E-10 92.5 DM Bradyopsia, 608415 (3) RGS9BP 19 32675407 32678300 N . N Y . . 0.037702874 48.6 DM Bradyopsia, 608415 (3) RGSL1 1 182450121 182560599 N . N N . . . . . . RHAG 6 49605158 49636839 N . N Y -0.055913898 45.41297679 0.340299251 34.5 DM Anemia, hemolytic, Rh-null, regulator type, 268150 (3); Rh-mod syndrome (3) RHBDD1 2 226835581 226999215 N . N N 0.914059295 91.35266539 4.74E-09 89.6 . . RHBDD2 7 75842602 75888926 N . N N -0.465862421 21.6299126 0.646226807 26.1 . . RHBDD3 22 29259852 29268209 N . N Y 0.896183914 91.04589917 2.04E-05 76.2 . . RHBDF2 17 76470891 76501790 N Viable N Y -0.045237653 46.19436245 0.000966721 64.9 DM Tylosis with esophageal cancer, 148500 (3) RHBDL2 1 38885807 38941799 N Viable N Y 0.160716564 61.81628755 2.70E-06 80.7 . . RHBG 1 156369212 156385219 N . N Y . . 3.73E-10 92 . . RHCE 1 25362249 25430192 N . N N 1.874908574 98.35040806 0.861454126 19.5 DM [Blood group, Rhesus], 111690 (3); Rh-null disease, amorph type (3) RHCG 15 89471398 89496613 N . N Y -0.140208598 39.40498929 4.91E-06 79.6 . . RHD 1 25272393 25330445 N . N Y 2.333874528 99.02182092 0.0060601 57.2 FP [Rh-negative blood type] (3) RHEBL1 12 49064685 49070025 N . N Y -0.118004239 40.88093998 3.29E-06 80.4 . . RHNO1 12 2876258 2889523 N . N N 0.288268772 69.80378538 0.000558185 66.7 . . RHO 3 129528640 129535169 N . N Y -0.402009394 24.309776 0.000556528 66.7 DM Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3); Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis punctata albescens, 136880 (3) RHOA 3 49359145 49412998 N . N N -0.029881147 47.28251433 0.804697934 21.5 . . RHOB 2 20447074 20449445 N . N Y -0.193034849 35.95531632 0.245030977 37.2 DFP . RHOBTB1 10 60869438 61001440 N . N N -0.612902778 16.4090988 0.001838227 62.2 . . RHOBTB2 8 22987417 23020199 N . N N -0.938418657 8.884644325 0.508425068 29.7 . . RHOBTB3 5 95713522 95824383 N . N Y -0.231201301 33.65746368 0.000533732 66.9 . . RHOC 1 112701106 112707434 N . N Y 0.291946181 70.03530706 0.586036085 27.8 . . RHOD 11 67056818 67072013 N . N N 0.345424702 73.15506164 0.20323506 38.7 . . RHOF 12 121777754 121803403 N . N Y 0.505861042 80.68530416 0.00520736 57.9 . . RHOG 11 3826978 3840983 N . N Y -0.20053791 35.44596863 0.600682842 27.4 DM . RHOH 4 40191053 40246967 N . N Y -0.185531789 36.42414771 0.123279463 41.9 DM . RHOJ 14 63204114 63293219 N . N Y -0.258648061 31.95577936 0.229657761 37.7 . . RHOQ 2 46541806 46583121 N . N N -0.199580796 35.52700122 0.304654917 35.6 . . RHOT2 16 668086 674174 N . N Y -0.33116381 27.67841639 9.27E-12 94.3 . . RHOU 1 228735077 228746669 N . N N -0.115133273 41.12403774 0.531957244 29.1 . . RHOV 15 40872214 40874289 N . N N -0.042016662 46.43167217 0.590311999 27.7 . . RHOXF1 X 120109053 120115937 N . N N 0.285399426 69.6822365 0.826599974 20.7 . . RHOXF2 X 120158561 120164039 N . N N . . 0.592958782 27.6 . . RHOXF2B X 120072264 120077705 N . N N . . 0.576875871 28.1 . . RHPN1 8 143368855 143384220 N Viable N Y 0.683365529 86.5196504 1.30E-06 82.2 . . RHPN2 19 32978593 33064888 N . N Y 1.537346078 97.15228338 0.000336631 68.3 DP . RIBC1 X 53422690 53431120 N . N N 0.105325255 57.63153325 0.966259507 13.4 . . RIBC2 22 45413691 45432496 N . N N . . 3.91E-07 84.1 . . RIC1 9 5629025 5776557 N . N Y . . . . . . RIC3 11 8106093 8169055 N . N N 0.446939746 78.20223418 0.012261351 54.1 . . RIIAD1 1 151710433 151729805 N . N N . . . . . . RILP 17 1646145 1650077 N Viable N Y . . 0.00067086 66.1 . . RILPL1 12 123470054 123533718 N Viable N Y -0.000674037 49.38936158 0.066019566 45.4 . . RILPL2 12 123410683 123436717 N Viable N Y -0.057022786 45.34352029 0.060872187 45.9 . . RIMBP2 12 130396137 130716281 N . N N 0.038556443 52.41071945 0.292582176 35.9 . . RIMBP3 22 18605815 18611919 N . N N . . . . . . RIMBP3B 22 21383374 21389478 N . N N . . . . . . RIMBP3C 22 21545357 21551461 N . N Y . . . . . . RIMKLA 1 42380795 42422578 N . N N -0.067244365 44.5852868 0.087395327 44 . . RIMKLB 12 8681600 8783095 N Viable N Y -0.294249011 29.74474735 0.911252634 17.2 . . RIMS2 8 103500748 104256094 N . N Y -0.14137419 39.31816866 0.999998399 1.9 . . RIMS3 1 40620679 40665657 N Viable N Y -0.095342599 42.403195 0.007251108 56.4 DM . RIMS4 20 44751808 44810338 N . N N -0.314041164 28.6045031 0.952765435 14.5 . . RIN1 11 66330242 66336840 N . N Y 0.583104234 83.61984141 0.000202047 69.8 . . RIN2 20 19886521 20002457 N . N N 1.320682022 95.91364241 0.008295585 55.7 DM Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) RIN3 14 92513774 92688994 N . N N 0.10976023 57.96145164 0.00027683 68.9 . . RING1 6 33208495 33212722 N . N Y -0.105716346 41.73178214 0.915792422 17 . . RINL 19 38867834 38878279 N . N N -0.049367758 45.85286797 0.030110536 49.6 . . RIOK1 6 7389496 7418037 N . N N 0.122395494 58.93963072 8.14E-07 82.9 . . RIOK2 5 97160867 97183260 N . N N 0.617749602 84.70799329 0.001140112 64.2 . . RIOK3 18 23452823 23486603 N . N N -0.425475634 23.3142328 0.000146775 70.7 . . RIPK2 8 89757747 89791063 N . N Y -0.124397678 40.48156509 0.554263286 28.6 DM? . RIPK3 14 24336021 24340045 N Viable N Y -0.22178469 34.23626787 2.24E-06 81.1 FTV . RIPPLY1 X 106900063 106903335 N . N Y 0.426047805 77.14302252 0.007805819 56.1 . . RIT1 1 155897808 155911404 N . N Y -0.284028847 30.40458413 0.666809792 25.6 DM Noonan syndrome 8, 615355 (3) RIT2 18 42743227 43115691 N . N N -0.245556279 32.71401285 0.060048528 46 . . RITA1 12 113185526 113192368 N . N N 0.328653775 72.25212711 . . . . RLBP1 15 89209869 89221751 N Viable N Y 0.034121997 52.16762169 5.41E-05 73.7 DM Fundus albipunctatus, 136880 (3); Retinitis punctata albescens, 136880 (3); Newfoundland rod-cone dystrophy, 607476 (3); Bothnia retinal dystrophy, 607475 (3) RLN1 9 5334969 5339873 Y Viable N Y 0.60627228 84.34334665 0.000528757 66.9 . . RLN2 9 5299868 5304969 N . N N 0.781718739 88.82907912 5.04E-05 73.9 . . RLN3 19 14028148 14031042 N Viable N Y 0.42987242 77.39769636 9.78E-05 72 . . RLTPR 16 67644919 67657569 N . N Y -0.657493547 15.1241535 0.022353307 51.1 . . RMDN1 8 86468257 86514357 N . N N 0.312691067 71.2565839 8.91E-07 82.7 . . RMDN2 2 37923187 38067142 N . N N 0.445330226 78.11541356 5.21E-16 97.4 FTV . RMDN3 15 40735884 40755851 N . N Y 0.192792725 64.00416739 0.023779598 50.7 . . RMI2 16 11249619 11351762 N . N N . . 0.024604188 50.6 . . RMND1 6 151404763 151452181 N . N N 0.460989431 78.87943509 7.66E-07 83 DM Combined oxidative phosphorylation deficiency 11, 614922 (3) RMND5A 2 86720173 86778041 N . N N -0.251145013 32.40145859 0.964712069 13.5 . . RMND5B 5 178130996 178150565 N . N N -0.256580891 32.10626845 6.92E-08 86.6 . . RNASE1 14 20801228 20803278 N . N N 0.45892919 78.75788621 0.161588977 40.1 . . RNASE10 14 20505537 20511169 N . N Y 0.546245901 82.28280373 0.013059519 53.8 . . RNASE11 14 20583559 20609884 N . N N 0.597812859 84.04236847 0.000992587 64.7 . . RNASE12 14 20590193 20590823 N . N N 0.330418352 72.31579557 0.006838299 56.7 . . RNASE13 14 21032820 21034785 N . N N 0.565887443 82.91948834 0.001156915 64.2 . . RNASE2 14 20955452 20956436 N . N N 0.375437469 74.69468079 0.038022749 48.6 . . RNASE3 14 20891399 20892348 N . N N 0.453338311 78.48584824 0.000178636 70.2 DFP . RNASE4 14 20684100 20701215 N . N N 0.360431074 73.9364473 0.007017134 56.6 . . RNASE6 14 20781051 20782467 N . N N 0.436419446 77.71025062 5.43E-08 86.9 . . RNASE7 14 21042226 21044234 N . N N 0.807909588 89.28633443 0.280449166 36.2 . . RNASE8 14 21057822 21058455 N . N N 0.465476352 79.10516872 0.005169102 58 . . RNASE9 14 20556093 20560931 N . N N 0.970264824 92.31926839 1.67E-05 76.8 . . RNASEH2A 19 12806580 12813638 N . N N 0.26862913 68.62881287 0.050079134 47 DM Aicardi-Goutieres syndrome 4, 610333 (3) RNASEK 17 7012417 7014532 N . N N 0.381028261 74.95514268 0.339227906 34.6 . . RNASEK-C17orf49 17 7012635 7017520 N . N N . . . . . . RNASEL 1 182573634 182589256 N . N Y 0.127331492 59.26376107 8.98E-09 89 DM Prostate cancer 1, 601518 (3) RNASET2 6 166929504 166957191 N Viable N Y 0.38485322 75.1519361 0.009480406 55.2 DM Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) RND1 12 48857145 48865898 N . N N 0.13438084 59.79626092 0.965631678 13.4 . . RND2 17 43025241 43032036 N . N N -0.01759377 48.06389998 0.000138854 70.9 . . RND3 2 150468195 150539011 Y Viable N Y -0.266151109 31.49273601 0.940812851 15.5 . . RNF10 12 120533480 120577594 N Viable N Y -1.327665697 4.497308561 0.502963048 29.9 . . RNF103 2 86603393 86623866 N . N Y -0.432826756 23.07113504 0.832672501 20.5 . . RNF103-CHMP3 2 86505668 86721122 N . N N -0.312126643 28.79550848 0.036245866 48.8 . . RNF11 1 51236271 51273455 N . N N -0.073942787 44.13960757 0.420327239 32.3 . . RNF112 17 19411125 19417276 N . N N -0.085774145 43.14406436 0.00365674 59.4 . . RNF113A X 119870475 119871827 N . N N 0.118418051 58.60971233 0.822115117 20.9 FTV ?Trichothiodystrophy 5, nonphotosensitive, 300953 (3) RNF113B 13 98175785 98177265 N . N N 0.247076574 67.28019911 0.135168377 41.3 . . RNF114 20 49936336 49953892 N . N N 0.110914976 58.05984835 0.0170046 52.5 DM . RNF115 1 145738868 145824077 N . N N -0.114176312 41.19928228 0.080634744 44.4 . . RNF121 11 71928701 71997597 N . N N -0.387157394 25.09116166 0.972894709 12.7 . . RNF122 8 33547755 33567125 N . N N -0.08703502 43.03409157 0.076386253 44.7 . . RNF123 3 49689499 49721529 N . N N -0.617109799 16.26439775 0.969714694 13 . . RNF125 18 32018372 32073213 N . N N 0.51527665 81.07889101 0.080624845 44.4 . Tenorio syndrome, 616260 (3) RNF126 19 647526 663277 N . N N . . 0.774554603 22.5 . . RNF128 X 106693794 106796993 N . N Y 0.535064702 81.88342884 0.768185327 22.7 DM? . RNF13 3 149812708 149962139 N Viable N Y -0.247316664 32.6098281 0.001985489 61.9 . . RNF130 5 179911651 180072118 N . N N -0.2707828 31.23227412 0.864935169 19.3 . . RNF133 7 122697712 122699156 N . N N 0.31747395 71.6154425 0.015150794 53.1 . . RNF135 17 30968785 30999911 N . N N 0.061263744 54.22237657 0.003075166 60.3 DM Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3) RNF138 18 32091855 32131561 N . N N 0.116504775 58.48816345 0.738927914 23.5 . . RNF139 8 124474738 124487914 N . N N -0.959165893 8.572090062 0.060873833 45.9 DM Renal cell carcinoma, 144700 (3) RNF14 5 141958328 141990291 N . N N -0.2153906 34.56618626 0.00753477 56.3 . . RNF141 11 10511678 10541230 N . N N 0.248840271 67.3901719 0.000702153 66 . . RNF144A 2 6917392 7068286 N . N N -0.195752553 35.7874631 0.988258457 10.3 . . RNF144B 6 18387350 18468874 N Viable N Y -0.233267662 33.50118655 0.027637716 50.1 . . RNF145 5 159157409 159210053 N . N N -0.074595468 44.09909128 0.663621979 25.7 . . RNF146 6 127266610 127288567 N . N N 0.031251654 51.92452393 0.445213313 31.6 . . RNF148 7 122701664 122702967 N . N N -0.159998829 38.04479944 0.000117584 71.4 . . RNF149 2 101271219 101308701 N . N N 0.277088785 69.12079643 0.000502224 67 . . RNF150 4 140859807 141212877 N . N N -0.13094377 40.00115761 0.013689752 53.6 . . RNF151 16 1966823 1968975 N . N N 0.709407966 87.09845459 3.80E-07 84.2 . . RNF152 18 61808063 61894247 N . N N -0.220175737 34.30572437 0.007053846 56.6 . . RNF157 17 76142453 76240373 N Viable N Y 0.147926643 60.87862476 0.000108023 71.6 . . RNF165 18 46326809 46463140 N . N N -0.324261194 28.05463912 0.971099075 12.9 . . RNF166 16 88696495 88706421 N . N N 0.420456796 76.83046825 0.551620567 28.6 . . RNF167 17 4940008 4945222 N . N N -0.212519778 34.79191989 0.129414192 41.6 . . RNF168 3 196468783 196503768 N . N N 0.251054778 67.51172078 1.37E-10 92.7 DM RIDDLE syndrome, 611943 (3) RNF169 11 74748868 74842413 N . N Y -0.520145081 19.48254905 0.084139282 44.2 . . RNF17 13 24764152 24879921 N . N Y -0.041109088 46.47218846 0.999999987 0.8 . . RNF170 8 42849637 42897290 N . N N -0.002587674 49.23887249 0.648136151 26.1 DM Ataxia, sensory, 1, autosomal dominant, 608984 (3) RNF175 4 153710125 153760235 N . N N 0.7751713 88.66701395 6.79E-10 91.4 . . RNF180 5 64165844 64372869 N . N N -0.357948071 26.40504717 5.17E-05 73.8 . . RNF181 2 85595725 85597613 N . N N 0.519911514 81.24674423 3.14E-09 90.1 . . RNF182 6 13924446 13980302 N . N N -0.226721694 33.94107773 0.012068777 54.2 . . RNF183 9 113297093 113303376 N Viable N Y 0.954301666 92.07617063 0.037593501 48.6 . . RNF185 22 31160183 31207019 N . N N -0.108587205 41.55814088 0.679395061 25.2 . . RNF186 1 19814029 19815278 N . N N 0.958125007 92.15141518 0.015478324 53 . . RNF187 1 228487061 228495766 N . N N . . . . . . RNF19A 8 100257059 100410015 N . N N -1.378427172 4.074781501 0.027076096 50.2 . . RNF19B 1 32936445 32964685 N . N Y -0.743480655 12.77999653 0.625353365 26.8 . . RNF207 1 6205475 6221299 N . N N 0.968646498 92.30769231 5.19E-06 79.5 . . RNF208 9 137220247 137221581 N . N N 0.281722177 69.41019853 0.603529096 27.4 . . RNF212 4 1056250 1113562 N . N Y 0.8136448 89.39051919 0.125225584 41.8 . Recombination rate QTL 1, 612042 (3) RNF212B 14 23185316 23273477 N . N N . . . . . . RNF213 17 80260866 80398786 N . N Y -1.387567376 4.028477166 1.68E-29 99.7 DM? {Moyamoya disease 2, susceptibility to}, 607151 (3) RNF214 11 117232625 117286445 N . N N -1.138297747 6.164264629 0.830018245 20.6 . . RNF215 22 30368811 30421771 N . N N 0.213237933 65.26017248 0.000386646 67.9 . . RNF216 7 5620047 5781739 N Viable N Y -1.465346464 3.542281646 0.409334345 32.5 DM Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3) RNF217 6 124962545 125092633 N . N N 0.151300234 61.07541819 0.029983663 49.6 . . RNF219 13 78614291 78659179 N . N N -0.618493002 16.2296695 2.49E-05 75.7 . . RNF220 1 44405194 44651724 N . N N -0.81755696 11.25195346 0.999277879 5.6 . . RNF222 17 8390704 8397826 N . N N . . . . . . RNF223 1 1070966 1074307 N . N N . . . . . . RNF224 9 137227271 137229638 N . N N . . . . . . RNF225 19 58396090 58397079 N . N N . . . . . . RNF24 20 3927309 4015582 N . N N 0.024554204 51.41517625 0.898356865 17.8 . . RNF25 2 218663864 218672411 N Viable N Y 0.661812332 85.96978642 0.829695266 20.6 . . RNF26 11 119334527 119337313 N . N N 0.082010267 55.87196851 0.677950757 25.2 . . RNF32 7 156640281 156677130 N . N N 0.423473783 77.05041384 1.60E-08 88.4 DM? . RNF34 12 121400041 121430623 N . N N -0.505292472 19.99768478 0.190893162 39 . . RNF39 6 30070266 30075887 N . N N . . 0.006661207 56.8 . . RNF40 16 30761745 30776307 N . N N -1.521826789 3.235515425 0.999994909 2.2 . . RNF41 12 56202175 56221933 N . N N -0.17611458 36.99137582 0.856083577 19.7 . . RNF43 17 58352500 58417595 N . N N 0.615031039 84.59802049 0.324237752 35 . . RNF44 5 176526697 176538025 N . N N 0.186095639 63.59900446 0.567929658 28.3 . . RNF5 6 32178354 32180793 N . N Y -0.139556392 39.44550559 0.002990424 60.3 . . RNF6 13 26132115 26222493 N . N N 0.119676499 58.71968513 0.170343293 39.7 . Esophageal carcinoma, somatic, 133239 (3) RNF8 6 37353972 37394738 N . N N -0.354273411 26.59605256 0.995892885 8 . . RNFT1 17 59952240 59964761 N . N N 0.422517211 76.9751693 0.011205655 54.4 . . RNFT2 12 116738178 116853631 N . N N 0.325784353 72.08427389 0.79070997 22 . . RNGTT 6 88610272 88963721 N . N N -0.857945637 10.40689935 0.763456431 22.8 . . RNH1 11 494512 507300 N . N N -0.228330922 33.84268102 0.000213432 69.6 . . RNLS 10 88273864 88584530 N . N Y 0.149537247 60.98280952 1.04E-06 82.5 DM . RNMT 18 13726660 13764558 N . N N 0.263995952 68.32783469 0.080932806 44.4 . . RNPC3 1 103525691 103555239 N . N N . . 0.525297994 29.3 . . RNPEP 1 201982372 202006147 N . N N 0.155277776 61.41112462 4.81E-11 93.4 . . RNPEPL1 2 240565804 240581372 N . N N . . 0.027901617 50.1 . . RNPS1 16 2253116 2268412 N . N N -0.590699388 17.02263124 0.948502987 14.9 . . ROGDI 16 4796968 4802950 N . N N 0.3596227 73.91329513 3.13E-12 94.8 DM Kohlschutter-Tonz syndrome, 226750 (3) ROM1 11 62611722 62615120 N . N Y 0.356902595 73.80332234 0.00326883 60 DM Retinitis pigmentosa 7, digenic, 608133 (3) ROMO1 20 35699272 35700984 N . N N 0.159610371 61.7121028 0.726806954 23.8 . . ROPN1 3 123968521 123992178 N . N N 0.26384649 68.31047057 0.008185352 55.8 . . ROPN1B 3 125969144 125983454 N . N N 0.414865996 76.60473462 5.67E-05 73.6 . . ROPN1L 5 10441524 10472029 N Viable N Y 0.311734573 71.17555131 0.001635436 62.7 DP . RORB 9 74497365 74693177 N . N Y -0.529716584 19.0195057 0.998551701 6.5 . . RORC 1 151806071 151831872 N . N Y -0.014571683 48.31278578 0.997845135 7.1 . . ROS1 6 117288300 117425855 N . N Y -0.198778306 35.54436534 1.78E-44 100 DM? . RP1 8 54616067 54630834 N . N Y 0.112450993 58.16403311 3.68E-10 92 DM . RP11-1012A1.4 14 67659820 67690367 N . N N . . . . . . RP11-101E3.5 9 128941478 128957021 N . N N . . . . . . RP11-1021N1.1 16 15395754 15515348 N . N N . . . . . . RP11-1035H13.3 16 18788063 18801519 N . N N . . . . . . RP11-106M3.2 15 72284727 72375981 N . N N . . . . . . RP11-106M3.5 15 72266746 72319946 N . N N . . . . . . RP11-108K14.8 10 133390834 133420495 N . N N . . 0.029365312 49.8 . . RP11-108O10.8 11 111786286 111879425 N . N N . . . . . . RP11-1099M24.7 17 7925931 7930622 N . N N . . . . . . RP11-111H13.1 2 99141485 99322741 N . N N . . . . . . RP11-111M22.2 11 76381313 76414619 N . N N . . . . . . RP11-11N7.5 1 244845167 244855497 N . N N . . . . . . RP11-1212A22.4 16 18358086 18379331 N . N N . . . . . . RP11-123K3.4 12 57249609 57296484 N . N N . . . . . . RP11-125O5.2 12 21047179 21176895 N . N N . . . . . . RP11-1277H1.5 16 33303739 33306935 N . N N . . . . . . RP11-12J10.3 10 124617080 124791727 N . N N . . . . . . RP11-136C24.3 3 42809446 43055871 N . N N . . . . . . RP11-140L24.4 11 14493783 14520344 N . N N . . . . . . RP11-145E5.5 9 21802636 22032986 N . N N . . . . . . RP11-146B14.1 9 6720863 7077263 N . N N . . . . . . RP11-152F13.10 15 82540032 82555932 N . N N . . . . . . RP11-156P1.2 17 46923133 47047154 N . N N . . . . . . RP11-159D12.5 17 57989038 58005253 N . N N . . . . . . RP11-15K19.2 7 55887277 55955239 N . N N . . . . . . RP11-162P23.2 12 111753890 111791418 N . N N . . . . . . RP11-166B2.1 16 11927373 11976643 N . N N . . 1.60E-08 88.4 . . RP11-166N6.3 3 150882997 150941743 N . N N . . . . . . RP11-176H8.1 14 31334312 31457441 N . N N . . 0.172135497 39.7 . . RP11-178C3.1 17 59940908 59973101 N . N N . . . . . . RP11-178L8.4 16 87302876 87334273 N . N N . . . . . . RP11-190A12.7 1 159857900 159873053 N . N N . . . . . . RP11-192H23.4 17 28455752 28614197 N . N N . . . . . . RP11-195F19.29 9 34646645 34657113 N . N N . . . . . . RP11-195F19.5 9 34664163 34666112 N . N N . . . . . . RP11-196G11.1 16 31083439 31094956 N . N N . . . . . . RP11-201K10.3 1 155169409 155187272 N . N N . . . . . . RP11-20I23.1 16 2496032 2520218 N . N N . . 1.15E-07 86 . . RP11-20I23.3 16 2513965 2527955 N . N N . . . . . . RP11-212D19.4 11 114400682 114443932 N . N N . . . . . . RP11-214K3.25 12 123973944 124088594 N . N N . . . . . . RP11-215A19.2 4 186426546 186555328 N . N N . . . . . . RP11-216L13.16 9 136738167 136748453 N . N N . . . . . . RP11-216L13.17 9 136791379 136800595 N . N N . . . . . . RP11-219A15.1 17 16690261 16804453 N . N N . . . . . . RP11-229P13.27 9 137031241 137040436 N . N N . . . . . . RP11-231C14.4 16 29483642 29505999 N . N N . . . . . . RP11-234B24.6 12 4657634 4744581 N . N N . . . . . . RP11-23E10.6 16 33459045 33462249 N . N N . . . . . . RP11-240B13.2 8 132024238 132085655 N . N N . . . . . . RP11-244H3.4 1 34981533 35031741 N . N N . . . . . . RP11-248J23.7 10 95860548 95924844 N . N N . . . . . . RP11-249C24.12 16 56676132 56677763 N . N N . . . . . . RP11-257K9.8 6 73209746 73263196 N . N N . . . . . . RP11-26J3.4 8 79918860 80080831 N . N N . . . . . . RP11-277P12.6 12 10412312 10436001 N . N N . . . . . . RP11-286N22.8 11 61429220 61485822 N . N N . . . . . . RP11-287D1.3 2 74211604 74363377 N . N N . . . . . . RP11-290H9.2 17 47253897 47344292 N . N N . . . . . . RP11-293I14.2 12 71674204 71698968 N . N N . . . . . . RP11-294C11.3 15 21651844 21653039 N . N N . . . . . . RP11-295K3.1 11 1747806 1759051 N . N N . . . . . . RP11-296A16.1 15 43772617 43799133 N . N N . . . . . . RP11-298I3.5 14 22946270 22982258 N . N N . . . . . . RP11-302B13.5 12 48903503 48957365 N . N N . . 0.630270461 26.6 . . RP11-302M6.4 1 89633140 89933250 N . N N . . . . . . RP11-307N16.6 13 23979700 24321031 N . N N . . . . . . RP1-130H16.18 22 30285238 30299482 N . N N . . . . . . RP11-310N16.1 2 48632291 48755724 N . N N . . . . . . RP11-314N13.10 20 1317571 1393096 N . N N . . . . . . RP11-315D16.2 15 68193801 68229718 N . N N . . 0.060362916 46 . . RP11-318A15.7 17 76732978 76738522 N . N N . . . . . . RP11-321N4.5 6 85557978 85615234 N . N N . . . . . . RP11-322E11.6 18 35443871 35497940 N . N N . . 0.01381961 53.6 . . RP11-322N21.2 1 46175486 46176478 N . N N . . . . . . RP11-330H6.5 3 52221081 52231190 N . N N . . . . . . RP11-343C2.11 16 69299682 69322700 N . N N . . . . . . RP11-343C2.12 16 69328644 69334871 N . N N . . . . . . RP11-343C2.7 16 69335276 69351730 N . N N . . . . . . RP11-343C2.9 16 69335091 69356306 N . N N . . . . . . RP11-345J4.3 16 29464967 29467833 N . N N . . . . . . RP11-345J4.5 16 29443056 29454651 N . N N . . . . . . RP11-347C12.1 16 30222937 30254510 N . N N . . . . . . RP11-347C12.3 16 30204316 30209071 N . N N . . . . . . RP11-350O14.18 9 137168854 137171984 N . N N . . . . . . RP11-35N6.1 9 101028709 101325135 N . N N . . . . . . RP11-371E8.4 14 93184973 93218586 N . N N . . . . . . RP11-385D13.1 17 15571491 15651653 N . N N . . . . . . RP11-385J1.3 3 178419123 178843300 N . N N . . . . . . RP1-138B7.6 20 43540171 43569498 N . N N . . . . . . RP11-38C17.1 2 99154998 99195298 N . N N . . . . . . RP11-392E22.9 9 38540569 38577207 N . N N . . . . . . RP1-139D8.6 6 42155426 42163439 N . N N . . . . . . RP11-400G3.5 10 94688154 94853073 N . N N . . . . . . RP11-403P17.5 16 66469812 66517312 N . N N . . . . . . RP11-404P21.8 14 96204844 96263929 N . N N . . 0.02260712 51 . . RP11-407N17.3 14 39233902 39350423 N . N N . . 0.00613602 57.1 . . RP11-407P15.2 2 94588522 94604573 N . N N . . . . . . RP11-411B6.6 10 100505628 100529881 N . N N . . . . . . RP11-426L16.10 1 112702614 112711433 N . N N . . . . . . RP11-432B6.3 3 160227454 160449829 N . N N . . . . . . RP11-434D12.1 3 14135217 14148252 N . N N . . . . . . RP11-437B10.1 15 92883413 92949230 N . N N . . . . . . RP11-438J1.1 3 10249372 10285796 N . N N . . . . . . RP11-444E17.6 6 44273194 44378957 N . N N . . . . . . RP11-446E24.4 1 54141224 54200073 N . N N . . . . . . RP11-447L10.1 3 196248230 196318222 N . N N . . . . . . RP11-449H3.3 5 146203550 146339251 N . N N . . . . . . RP11-457D20.2 16 60358455 60359480 N . N N . . . . . . RP11-458D21.5 1 146113652 146229000 N . N N . . . . . . RP11-45M22.4 17 17202649 17237185 N . N N . . . . . . RP11-463C8.4 14 77098311 77225462 N . N N . . . . . . RP11-463D19.2 8 73688691 73878854 N . N N . . . . . . RP11-468E2.1 14 24189157 24213473 N . N N . . . . . . RP11-468E2.2 14 24180395 24190416 N . N N . . . . . . RP11-468E2.4 14 24151218 24167402 N . N N . . . . . . RP11-468E2.6 14 24120956 24131829 N . N N . . . . . . RP11-475E11.9 1 108837660 108963484 N . N N . . . . . . RP11-47I22.4 14 61529128 61657964 N . N N . . . . . . RP11-484M3.5 3 119147375 119187807 N . N N . . . . . . RP11-49K24.6 18 47134656 47176281 N . N N . . . . . . RP11-49K24.9 18 47022287 47023927 N . N N . . . . . . RP11-500M8.7 12 4604944 4662643 N . N N . . . . . . RP11-505K9.4 16 83908132 83951445 N . N N . . . . . . RP11-507M3.1 2 24124366 24190436 N . N N . . . . . . RP11-512M8.5 12 122207779 122266423 N . N N . . . . . . RP11-514O12.4 6 166858094 166956124 N . N N . . . . . . RP11-514P8.6 7 102582523 102642869 N . N N . . . . . . RP11-514P8.7 7 102541501 102592444 N . N N . . . . . . RP11-51F16.8 17 63702845 63752097 N . N N . . . . . . RP11-51L5.7 17 62272487 62282915 N . N N . . . . . . RP11-520P18.5 8 143080457 143083001 N . N N . . . . . . RP11-529K1.3 16 70299194 70366260 N . N N . . . . . . RP11-540D14.8 1 155063748 155086807 N . N N . . . . . . RP11-542C16.2 17 7312661 7319174 N . N N . . . . . . RP11-544M22.13 1 160997957 161038962 N . N N . . . . . . RP11-545J16.1 12 20815674 21090245 N . N N . . . . . . RP11-546B8.6 5 171305981 171308755 N . N N . . . . . . RP11-548K23.11 10 97584374 97673910 N . N N . . . . . . RP11-54C4.3 5 151769793 151771508 N . N N . . . . . . RP11-552F3.12 17 75898645 75930129 N . N N . . . . . . RP11-561B11.2 14 35122549 35317474 N . N N . . . . . . RP11-565P22.6 1 162365407 162383531 N . N N . . . . . . RP11-569G13.3 9 96106661 96116411 N . N N . . . . . . RP11-571M6.15 12 57773028 57787046 N . N N . . . . . . RP11-574F21.3 1 160217464 160285130 N . N N . . . . . . RP11-574K11.31 10 73796514 73811651 N . N N . . . . . . RP11-58C22.1 16 76553417 76819624 N . N N . . . . . . RP11-598P20.5 8 43018424 43077334 N . N N . . . . . . RP11-599B13.6 17 8150816 8162975 N . N N . . . . . . RP11-5A19.5 16 67163385 67165815 N . N N . . . . . . RP11-603J24.9 12 56101331 56109289 N . N N . . . . . . RP11-613M10.8 9 37512547 37592469 N . N N . . . . . . RP11-613M10.9 9 37588413 38068687 N . N N . . . . . . RP11-618P17.4 19 34396315 34409364 N . N N . . . . . . RP11-637O19.3 6 10747794 10930423 N . N N . . . . . . RP11-644F5.10 12 55716036 55724703 N . N N . . 0.038610316 48.5 . . RP11-691N7.6 11 57742163 57793243 N . N N . . . . . . RP11-697E2.12 15 90266317 90314499 N . N N . . . . . . RP11-697E2.6 15 90249556 90272208 N . N N . . . . . . RP11-722G7.1 X 104063871 104076212 N . N N . . . . . . RP11-723O4.6 3 128909874 128971330 N . N N . . . . . . RP11-724O16.1 2 169479480 169525922 N . N N . . 0.004395974 58.7 . . RP11-729L2.2 18 50968019 51058144 N . N N . . . . . . RP11-73M18.2 14 103562962 103685924 N . N N . . 0.007052546 56.6 . . RP11-745O10.4 12 66123917 66169985 N . N N . . . . . . RP11-761B3.1 2 47065941 47176511 N . N N . . . . . . RP11-762I7.5 12 55757275 55827546 N . N N . . . . . . RP11-766F14.2 4 99636529 99654648 N . N N . . . . . . RP11-77K12.1 16 75412684 75464706 N . N N . . . . . . RP11-77K12.7 16 75528532 75545428 N . N N . . . . . . RP11-793H13.10 12 53506688 53625979 N . N N . . 0.48088645 30.6 . . RP11-795F19.5 18 80034346 80097088 N . N N . . . . . . RP11-812E19.9 16 33844784 33845229 N . N N . . . . . . RP11-831H9.11 11 62649694 62665178 N . N N . . 0.079166678 44.5 . . RP11-834C11.12 12 53985845 54034888 N . N N . . . . . . RP11-849F2.7 17 8368638 8383187 N . N N . . . . . . RP11-849H4.2 11 71865509 71928654 N . N N . . . . . . RP11-864I4.1 11 62559603 62591531 N . N N . . . . . . RP11-872D17.8 11 57387365 57424059 N . N N . . . . . . RP11-87C12.2 12 121888809 121921470 N . N N . . . . . . RP11-886H22.1 18 49795793 49837623 N . N N . . . . . . RP11-894J14.5 3 52969119 53099453 N . N N . . . . . . RP11-903H12.5 14 20684587 20700576 N . N N . . . . . . RP11-934B9.3 14 24332310 24337382 N . N N . . 0.005965155 57.2 . . RP11-96O20.4 15 45587351 45676314 N . N N . . . . . . RP11-977G19.10 12 56285916 56316059 N . N N . . . . . . RP1-27O5.3 1 32465057 32600792 N . N N . . . . . . RP1-309K20.6 20 35632340 35674544 N . N N . . . . . . RP13-1032I1.10 17 81703371 81720539 N . N N . . . . . . RP1-317E23.6 1 25811470 25823744 N . N N . . . . . . RP1-321E8.5 X 120877496 120878924 N . N N . . . . . . RP13-279N23.2 1 18849273 18921121 N . N N . . . . . . RP13-512J5.1 2 3531984 3547957 N . N N . . . . . . RP13-582O9.6 8 143247110 143276403 N . N N . . . . . . RP13-672B3.2 12 132688049 132714912 N . N N . . . . . . RP1-37E16.12 22 37686414 37726503 N . N N . . . . . . RP1-4G17.5 17 7246829 7262089 N . N N . . . . . . RP1-66C13.4 17 27798806 27893365 N . N N . . 0.052336302 46.7 . . RP1L1 8 10606349 10712187 N . N Y 5.942589846 99.8900272 . . DM Occult macular dystrophy, 613587 (3) RP2 X 46836940 46882358 N . N Y 0.33887786 72.80777913 0.851505577 19.8 DM Retinitis pigmentosa 2, 312600 (3) RP3-461F17.3 12 6970921 6997428 N . N N . . . . . . RP3-468K18.5 6 143807092 143844617 N . N N . . . . . . RP3-468K18.7 6 143857318 143938471 N . N N . . . . . . RP3-509I19.11 6 138725211 138773652 N . N N . . . . . . RP4-539M6.19 22 30409255 30428990 N . N N . . . . . . RP4-559A3.7 1 225886696 225924278 N . N N . . 0.016354595 52.7 . . RP4-576H24.4 20 1540144 1620009 N . N N . . . . . . RP4-583P15.14 20 63738270 63740398 N . N N . . . . . . RP4-583P15.15 20 63708864 63739103 N . N N . . . . . . RP4-608O15.3 1 196819745 196959210 N . N N . . . . . . RP4-734P14.4 20 2467212 2508907 N . N N . . . . . . RP5-1021I20.4 14 73851971 73932278 N . N N . . . . . . RP5-1042K10.14 22 40364958 40404362 N . N N . . . . . . RP5-1052I5.2 1 86993009 87169204 N . N N . . 0.088823164 43.8 . . RP5-850E9.3 20 646626 675800 N . N N . . 0.031957746 49.4 . . RP5-860F19.8 20 2814968 2818066 N . N N . . . . . . RP5-864K19.6 1 38864501 38881617 N . N N . . . . . . RP5-874C20.8 6 28267121 28281580 N . N N . . . . . . RP5-877J2.1 7 30852273 30923812 N . N N . . . . . . RP5-966M1.6 3 52813282 52835729 N . N N . . . . . . RP5-972B16.2 X 37349330 38687674 N . N N . . . . . . RP6-24A23.6 X 108722070 108732687 N . N N . . . . . . RP9 7 33094797 33109401 N . N N 0.147473793 60.82653238 0.174162978 39.6 DM ?Retinitis pigmentosa 9, 180104 (3) RPA2 1 27891524 27914746 N . N N -0.167654501 37.52966371 0.888461679 18.3 DP . RPA3 7 7636518 7718607 N . N N -0.314998473 28.52925855 7.56E-05 72.7 . . RPA4 X 96883908 96885467 N . N N 0.005872186 49.93922556 0.273955521 36.4 FP . RPAIN 17 5419641 5432876 N . N N 0.11474167 58.35503849 6.36E-06 79.1 . . RPAP1 15 41517176 41544269 N . N N 2.074788206 98.69190253 5.02E-15 96.8 . . RPAP3 12 47661249 47706061 N . N N -0.449746467 22.30132546 0.14030954 41.1 . . RPE 2 210002565 210022259 N . N N -0.334635847 27.50477513 0.316665037 35.3 . . RPE65 1 68428822 68449959 N . N Y -0.479758918 21.01638016 1.46E-07 85.7 DM Leber congenital amaurosis 2, 204100 (3); Retinitis pigmentosa 20, 613794 (3) RPEL1 10 103245887 103248016 N . N N . . . . . . RPF1 1 84479259 84497790 N . N N 0.544480852 82.23071135 9.48E-07 82.6 . . RPF2 6 110982015 111028263 N . N N 0.889636308 90.92435029 0.393258892 32.9 . . RPGR X 38269163 38327564 N . N Y 1.498709367 96.96706604 0.997857546 7 DM Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Macular degeneration, X-linked atrophic, 300834 (3); Cone-rod dystrophy, X-linked, 1, 304020 (3) RPGRIP1 14 21287939 21351301 N . N Y 0.098582196 57.00642473 2.57E-21 98.9 DM Leber congenital amaurosis 6, 613826 (3); Cone-rod dystrophy 13, 608194 (3) RPH3A 12 112570380 112898881 N Viable N Y 0.253925617 67.70272617 0.738603478 23.5 . . RPH3AL 17 212389 386254 N . N Y 0.733019432 87.65410662 5.11E-10 91.7 DFP . RPL10 X 154389955 154409168 N . N N 0.433551085 77.55397349 0.901193298 17.7 DM {Autism, susceptibility to, X-linked 5}, 300847 (3) RPL10A 6 35468408 35470785 N . N N -0.389072069 24.99276495 0.302378831 35.7 . . RPL10L 14 46651010 46651821 N . N N 0.295771879 70.24367656 0.02605492 50.3 . . RPL11 1 23691779 23696425 N . N N -0.186488904 36.36626729 0.725843321 23.9 DM Diamond-Blackfan anemia 7, 612562 (3) RPL12 9 127447674 127451405 N . N N 0.010504826 50.32702437 0.164356185 40 . . RPL13 16 89560657 89566828 N . N N -0.31116943 28.88232911 0.914867445 17 . . RPL13A 19 49487554 49492308 N . N N -0.025096816 47.5834925 0.633828369 26.5 . . RPL14 3 40457292 40468587 N . N N 0.899864455 91.08641547 0.936435428 15.8 . . RPL15 3 23916545 23923692 N . N N 0.041473905 52.65960526 0.956294174 14.2 . ?Diamond-Blackfan anemia 12, 615550 (3) RPL17 18 49488453 49492565 N . N N -0.239010401 33.13075187 0.494059426 30.1 . . RPL17-C18orf32 18 49481681 49491586 N . N N -0.092624171 42.6520808 0.605942172 27.3 . . RPL18 19 48615328 48619536 N . N N -0.312126643 28.79550848 0.554781181 28.5 . . RPL18A 19 17859876 17864153 N . N N -0.108587205 41.55814088 0.963491173 13.6 . . RPL19 17 39200283 39204727 N . N N 0.322915185 71.92799676 0.974448375 12.5 . . RPL21 13 27251309 27256691 N . N N -0.043930449 46.31591133 0.920443069 16.7 DM Hypotrichosis 12, 615885 (3) RPL22 1 6181269 6209389 N . N N 0.016094318 50.71482318 0.348492156 34.2 . . RPL22L1 3 170864875 170870483 N . N N 0.191535973 63.89419459 0.093959393 43.5 . . RPL23 17 38847865 38853843 N . N N -0.013918082 48.39381837 0.93162443 16 . . RPL23A 17 28719393 28724359 N . N N 0.298492991 70.40574174 0.876904382 18.8 . . RPL26 17 8377520 8383213 N . N N 0.123051266 58.96278289 0.915888681 17 DM ?Diamond-Blackfan anemia 11, 614900 (3) RPL26L1 5 172958729 172969771 N . N N 0.527414817 81.53035828 0.49226027 30.2 . . RPL27 17 42998273 43002959 N . N N -0.110501175 41.41343983 0.822384681 20.9 . . RPL28 19 55385345 55403250 N . N N 0.340790619 72.91775192 0.671038473 25.5 . . RPL3 22 39312882 39320389 N . N N -0.700375489 13.90287666 0.994251971 8.8 . . RPL30 8 98024851 98046469 N . N N 0.030143764 51.8087631 0.774790168 22.4 . . RPL31 2 101001715 101024032 N . N N -0.11145818 41.38449962 0.843001843 20.1 . . RPL32 3 12834485 12841588 N . N N 0.154020328 61.30693986 0.755582038 23 . . RPL34 4 108620566 108630412 N . N N 0.107088402 57.71835388 0.891623097 18.1 . . RPL35 9 124857880 124861981 N . N N 0.033014066 52.06922498 0.527875069 29.2 . . RPL35A 3 197949987 197956610 N . N N 0.099585278 57.16270186 0.914385546 17 DM Diamond-Blackfan anemia 5, 612528 (3) RPL36 19 5674947 5691876 N . N N 0.121138064 58.78914163 0.623121945 26.8 DM? . RPL36A X 101390824 101396154 N . N N 0.205585801 64.70452046 0.793206864 21.9 . . RPL36A-HNRNPH2 X 101391011 101412297 N . N N . . . . . . RPL36AL 14 49618519 49620685 N . N N -0.022378042 47.78028593 0.041833199 48 . . RPL37 5 40825262 40835335 N . N N -0.088948948 42.87202639 0.577671288 28 . . RPL37A 2 216498189 216579180 N . N N 0.002044933 49.63824738 0.004770765 58.3 . . RPL39 X 119786504 119791643 N . N N 0.21021973 65.0691671 0.620183578 26.9 . . RPL39L 3 187120948 187180908 N . N N 0.552648777 82.53168953 0.175781235 39.5 . . RPL3L 16 1943974 1957606 N . N N 1.965125549 98.5356254 2.14E-08 88.1 . . RPL4 15 66498015 66524532 N . N N -0.48550039 20.72697806 0.999281604 5.6 . . RPL41 12 56116586 56117943 N . N N . . 0.041529599 48.1 . . RPL5 1 92832025 92841924 N . N N -0.099170261 42.1543092 0.994762229 8.5 DM Diamond-Blackfan anemia 6, 612561 (3) RPL6 12 112405190 112418838 N . N N -0.068201255 44.52161834 0.988288271 10.3 . . RPL7 8 73290267 73295789 N . N N -0.425630209 23.29686867 0.991153032 9.7 . . RPL7A 9 133348214 133351426 N . N N -0.45372795 22.13347225 0.979405409 11.9 . . RPL7L1 6 42879618 42889925 N . N N 0.274219089 68.94136714 0.201503933 38.7 . . RPL8 8 144789765 144792587 N . N N -0.386200114 25.12588991 0.932693413 15.9 . . RPL9 4 39454124 39458948 N . N N 0.072442927 55.09058286 0.918456438 16.8 . . RPLP0 12 120196686 120201235 N . N N -0.437764465 22.83961336 0.978691783 12 . . RPLP1 15 69452784 69456194 N . N N 0.175573187 62.89865139 0.680907047 25.1 . . RPLP2 11 809647 812880 N . N N 0.216914842 65.45696591 0.708517553 24.4 . . RPN1 3 128619970 128681075 N . N N -0.392592402 24.83069977 0.664450734 25.7 . . RPP14 3 58306262 58318574 N . N N 0.624002642 84.88163454 0.147340973 40.7 . . RPP21 6 30345131 30346884 N . N N 0.518955475 81.21780402 0.082453977 44.3 . . RPP25 15 74954416 74957464 N . N N -0.095495045 42.38583087 0.006957577 56.6 . . RPP25L 9 34610486 34612104 N . N N -0.306538083 29.06754645 0.834923219 20.5 . . RPP30 10 90871716 90908553 N . N N -0.313886865 28.62186722 2.35E-05 75.8 . . RPP38 10 15097180 15139818 N . N N 0.207648094 64.90710193 1.68E-05 76.7 . . RPP40 6 4994732 5004063 N . N N 0.687042931 86.57753082 0.002577208 61 . . RPRD1A 18 35984387 36067576 N . N N -0.440636427 22.72385252 0.251149109 37.1 . . RPRD1B 20 38033546 38127780 N . N Y -0.440636427 22.72385252 0.595211393 27.6 FTV . RPRD2 1 150363091 150476566 N . N N -1.27582182 4.89089541 0.999977311 2.9 . . RPRM 2 153477338 153478808 N . N N -0.066439705 44.63737917 0.532566515 29.1 . . RPRML 17 46978156 46979248 N . N N 0.000131289 49.44145396 0.421294823 32.2 . . RPS10 6 34417454 34426125 N . N N -0.224004258 34.09156682 0.946462998 15.1 DM Diamond-Blackfan anemia 9, 613308 (3) RPS10-NUDT3 6 34288770 34426048 N . N N . . . . . . RPS11 19 49496365 49499689 N . N N -0.049519725 45.82392777 0.913344861 17.1 . . RPS12 6 132814441 132817564 N . N N -0.0579797 45.26827574 0.827435142 20.7 . . RPS13 11 17074389 17077787 N . N N -0.15743371 38.19528853 0.960207217 13.9 . . RPS14 5 150443190 150449756 N . N N 0.001088113 49.55142675 0.864815342 19.3 . Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3) RPS15 19 1438358 1440494 N . N N 0.099585278 57.16270186 0.697325165 24.7 DM? . RPS15A 16 18781295 18790383 N . N N 0.022640642 51.24732303 0.833355705 20.5 . . RPS16 19 39433207 39435948 N . N N -0.239010401 33.13075187 0.281859103 36.2 . . RPS17 15 82536753 82540564 N . N N . . . . DM Diamond-Blackfan anemia 4, 612527 (3) RPS18 6 33272010 33276510 N . N N 0.08362237 55.98772935 0.962013321 13.8 . . RPS2 16 1962052 1964860 N . N N -0.452770663 22.14504833 0.23687207 37.5 . . RPS21 20 62387116 62388520 N . N N 0.108045035 57.83990276 0.465534819 31 . . RPS23 5 82273358 82278577 N . N N 0.046106757 53.06476819 0.878578938 18.7 . . RPS24 10 78033760 78056812 N . N N . . 0.852844135 19.8 DM Diamond-blackfan anemia 3, 610629 (3) RPS25 11 119015712 119018691 N . N N -0.029881147 47.28251433 0.809686936 21.3 . . RPS26 12 56041853 56044675 N . N N -0.119918286 40.73045089 0.753342825 23.1 DM Diamond-Blackfan anemia 10, 613309 (3) RPS27 1 153990759 153992150 N . N N 0.000131289 49.44145396 0.697777961 24.7 . . RPS27A 2 55231903 55235853 N . N N -0.239010401 33.13075187 0.525112782 29.3 DM? . RPS27L 15 63125872 63158021 N . N N 0.08362237 55.98772935 0.335851902 34.7 . . RPS28 19 8321158 8323340 N . N N 0.211176126 65.14441165 0.688845092 24.9 . Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3) RPS29 14 49570984 49599164 N . N N 0.015137522 50.6627308 0.34940701 34.2 . Diamond-Blackfan anemia 13, 615909 (3) RPS3 11 75399486 75422280 N . N N 0.018964694 50.97528506 0.957385986 14.1 FP . RPS3A 4 151099573 151104652 N . N N -0.162065544 37.85379406 0.744269731 23.3 . . RPS4X X 72255679 72277300 N . N N 0.008591214 50.15917115 0.886149634 18.4 . . RPS4Y1 Y 2841486 2932000 N . N N . . 0.50239633 29.9 . . RPS5 19 58386400 58394806 N . N N -0.26151962 31.75319789 0.903178121 17.6 . . RPS6 9 19375715 19380254 N . N N -0.371193959 25.80887886 0.789114983 22 . . RPS6KA1 1 26529761 26575030 N . N N -0.735825246 13.00573016 0.725875553 23.9 . . RPS6KA2 6 166409364 166906451 N . N Y -1.459062976 3.582797939 0.084700886 44.1 . . RPS6KA3 X 20149911 20267100 N . N Y 0.034927599 52.21971407 0.999905699 3.7 DM Coffin-Lowry syndrome, 303600 (3); Mental retardation, X-linked 19, 300844 (3) RPS6KA4 11 64359148 64372215 N . N N -0.354120223 26.60762864 0.99947454 5.2 . . RPS6KA5 14 90847862 91060636 N . N Y 0.061566363 54.27446895 0.999801807 4.3 . . RPS6KA6 X 84058346 84187907 N . N N -0.299837855 29.4611333 0.744166834 23.3 . . RPS6KB1 17 59893046 59950564 N . N Y -0.620712187 16.16600104 0.99822324 6.7 FTV . RPS6KB2 11 67428460 67435408 N . N Y -0.150430658 38.69884818 3.21E-11 93.7 DP . RPS6KC1 1 213051233 213274773 N . N N -0.752452811 12.54268681 0.020440097 51.5 . . RPS6KL1 14 74903954 74923396 N . N N 1.118720025 94.16565376 0.000674281 66.1 FTV . RPS8 1 44775251 44778779 N . N N -0.269979946 31.27279042 0.965122842 13.5 . . RPS9 19 54200742 54249003 N . N N -0.239967611 33.04971928 0.787131549 22.1 . . RPTN 1 152153595 152159228 N . N N 1.191198476 94.95282746 3.18E-18 98.2 . . RPUSD1 16 784974 788397 N . N N -0.112110344 41.35555941 3.06E-08 87.6 . . RPUSD2 15 40569300 40574943 N . N N 0.368232636 74.30688198 0.000105171 71.7 . . RPUSD3 3 9837849 9844602 N . N N 0.98541706 92.5970944 0.000322774 68.4 . . RPUSD4 11 126202094 126211692 N . N N 0.077377607 55.48416971 0.006729138 56.8 . . RRAD 16 66921679 66925644 N Viable N Y -0.174200506 37.13028882 0.310768743 35.4 . . RRAGB X 55717739 55758774 N . N N -0.192077745 36.04213695 0.893169859 18.1 . . RRAGC 1 38838198 38859823 N . N N -0.230550154 33.7153441 0.600078052 27.5 . . RRAGD 6 89364636 89412270 N . N N -0.146102415 38.98246223 0.812902091 21.2 . . RRAS 19 49635292 49640201 N . N N -0.03818917 46.70949818 0.287257429 36 . . RRAS2 11 14277926 14364506 N . N Y -0.095495045 42.38583087 0.674254314 25.4 . Ovarian carcinoma (3) RRBP1 20 17613678 17682295 N . N N 0.843487934 90.06772009 0.000136332 71 . . RREB1 6 7107597 7251980 N . N N 0.014893049 50.61642646 0.999967928 3 DM? . RRH 4 109827994 109844604 N . N N 0.157040256 61.54424958 5.11E-06 79.5 DM? . RRM1 11 4094707 4138876 N . N N -0.802550202 11.49505122 0.999994804 2.3 FP . RRM2B 8 102204502 102239118 N . N Y -0.402163571 24.28662384 0.157235868 40.3 DM Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, 613077 (3); Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3) RRNAD1 1 156728442 156736960 N . N N -0.23966114 33.10181166 2.12E-08 88.1 . . RRP1 21 43789513 43805293 N . N N 0.765902273 88.46443248 0.001850411 62.2 . . RRP12 10 97356358 97426076 N . N N -0.634846878 15.79556636 4.36E-06 79.8 . . RRP15 1 218285287 218337983 N . N N 0.44120081 77.9417723 0.00163197 62.7 . . RRP1B 21 43659548 43696079 N . N N 0.151602096 61.11014644 0.036818435 48.7 DP . RRP36 6 43021645 43034156 N . N N 0.273262571 68.86033455 9.22E-11 93 . . RRP7A 22 42509968 42519802 N . N N 2.104715464 98.73241882 0.002372959 61.3 . . RRP9 3 51933430 51941941 N . N N -0.121527027 40.6494183 0.342043484 34.5 . . RRS1 8 66429028 66430733 N . N N 0.570668188 83.09312959 0.551023834 28.6 . . RS1 X 18639910 18672109 N . N Y 0.132467594 59.58789142 0.89291234 18.1 DM Retinoschisis, 312700 (3) RSAD1 17 50478800 50485975 N Viable N Y -0.238704305 33.15390403 5.75E-06 79.3 . . RSAD2 2 6865806 6898239 N . N Y 0.255536257 67.80112288 4.59E-12 94.7 . . RSBN1L 7 77696443 77783022 N . N N -0.557510609 18.00081033 0.500030091 30 . . RSC1A1 1 15659869 15661722 N . N Y 1.107540809 94.02095271 1.46E-08 88.5 . . RSG1 1 16231700 16237162 N . N N 0.418691306 76.76679979 1.08E-06 82.4 . . RSL1D1 16 11833850 11851585 N . N N 0.372060158 74.51525149 0.000364294 68 . . RSL24D1 15 55180806 55197067 N . N N 0.170939673 62.57452104 0.946909507 15 . . RSPH1 21 42472486 42496354 N . N Y 1.06795787 93.60421369 0.00021057 69.7 . Ciliary dyskinesia, primary, 24, 615481 (3) RSPH10B 7 5925550 5970683 N . N N . . . . . . RSPH10B2 7 6754109 6799365 N . N N . . . . . . RSPH14 22 23059415 23145021 N . N N . . . . . . RSPH3 6 158972871 159000187 N . N N 1.455597553 96.74133241 0.001396232 63.4 . Ciliary dyskinesia, primary, 32, 616481 (3) RSPH4A 6 116616479 116632985 N . N N -0.226417441 33.95265382 1.84E-07 85.3 DM Ciliary dyskinesia, primary, 11, 612649 (3) RSPH6A 19 45795710 45815319 N . N N 0.361994282 74.01169184 2.55E-08 87.9 . . RSPO1 1 37611350 37634923 N Viable N Y -0.209801572 34.94819702 0.002910514 60.5 DM Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3); Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3) RSPO4 20 958452 1002264 N . N N 0.690721426 86.69329166 0.000413043 67.6 DM Anonychia congenita, 206800 (3) RSPRY1 16 57186137 57240475 N . N N -0.761359217 12.36904555 0.999778005 4.4 . . RSRC1 3 158105855 158545730 N . N N 0.026619 51.54251317 3.41E-05 74.9 FTV . RSRC2 12 122503458 122527000 N . N N -0.815797634 11.28668172 0.992877361 9.2 . . RSRP1 1 25242237 25338213 N . N N . . . . . . RSU1 10 16590611 16817528 N . N N -0.127268446 40.25583145 0.047765679 47.3 . . RTBDN 19 12825478 12835428 N . N Y 0.380219143 74.93777855 3.28E-07 84.4 . . RTCA 1 100266207 100292769 N . N N 0.271498993 68.77351392 0.002920978 60.4 . . RTCB 22 32387582 32412255 N . N N -0.931065821 9.035133414 0.058729233 46.1 . . RTEL1-TNFRSF6B 20 63659300 63698698 N . N N . . . . . . RTFDC1 20 56468585 56519449 N . N N 0.068766772 54.77802859 0.003932276 59.1 . . RTKN 2 74425836 74442422 N . N N -0.60635615 16.57695202 0.000149538 70.6 . . RTKN2 10 62183035 62268707 N . N N -0.222741485 34.17259941 1.31E-14 96.6 DP . RTN1 14 59595976 59870966 N Viable N Y 0.356097127 73.757018 0.959599486 14 . . RTN2 19 45485289 45497061 N . N Y -0.343746643 27.07067199 0.636179982 26.4 DM Spastic paraplegia 12, autosomal dominant, 604805 (3) RTN3 11 63681446 63759891 N . N N -1.265584424 4.995080164 0.040022823 48.3 DP . RTN4IP1 6 106571971 106629487 N . N N 0.279002038 69.25970944 3.75E-06 80.1 . . RTN4R 22 20241415 20283246 N . N Y 0.145861223 60.69919546 0.526443418 29.2 DM? {Schizophrenia, susceptibility to}, 181500 (3) RTN4RL1 17 1934677 2025345 N . N N -0.158085076 38.15477224 0.787530525 22.1 DM? . RTN4RL2 11 57460549 57477534 N . N Y -0.195752553 35.7874631 0.975814588 12.3 . . RTP1 3 187197486 187201465 N . N Y 0.148580539 60.91335301 0.563829726 28.4 . . RTP2 3 187698259 187702557 N . N Y -0.283874745 30.4277363 0.003381055 59.9 . . RTP3 3 46497491 46500949 N . N N -0.191120662 36.08265324 0.181516461 39.3 . . RTP4 3 187368332 187372076 N . N N 0.7047722 87.01163396 0.010845646 54.6 . . RTP5 2 241869600 241873823 N . N N . . . . . . RUFY1 5 179550558 179610026 N . N N -0.925324561 9.139318169 0.064670215 45.5 . . RUFY2 10 68341107 68407294 N . N Y -0.437610849 22.86276553 0.416574096 32.4 . . RUFY4 2 218034960 218090581 N . N N . . 4.88E-09 89.6 . . RUNDC3A 17 44308413 44318671 N . N N . . 0.960334019 13.9 . . RUNDC3B 7 87627548 87832296 N . N N -0.473365526 21.30578225 0.001491894 63 . . RUSC1 1 155320896 155331114 N . N N -0.835134974 10.87573074 0.949429118 14.8 . . RUSC2 9 35490127 35561898 N . N N -1.874240404 1.979510332 0.99997732 2.9 . . RUVBL1 3 128064778 128153914 N . N Y -0.506249788 19.96874457 0.99889769 6 DM? . RWDD1 6 116571367 116597675 N Viable N Y -0.033556726 47.03941657 0.372943967 33.5 . . RWDD2A 6 83193379 83198932 N . N N -0.289617454 30.09202987 0.000931282 65 . . RWDD2B 21 29004384 29019378 N . N N 0.523736129 81.40302136 0.000174917 70.2 . . RWDD4 4 183639635 183659225 N . N N -0.178028729 36.84667477 0.482983522 30.5 . . RXFP1 4 158315311 158653372 N . N Y -0.583846494 17.27151705 3.07E-07 84.5 . . RXFP2 13 31739542 31803388 N Viable N Y -0.346466122 26.93175899 2.94E-08 87.7 DM? . RXFP3 5 33936386 33938237 N . N Y -0.094233924 42.51895584 2.31E-11 93.8 . . RXFP4 1 155941710 155942949 N . N Y 0.319387303 71.73699138 0.005495818 57.7 . . RXRG 1 165400917 165445355 N . N Y -0.949902102 8.71679111 0.937024402 15.8 DP . RYR3 15 33310962 33866102 N . N Y -4.490345347 0.138913006 0.999999945 1 DM? . S100A1 1 153627926 153632039 N . N Y 0.176529703 62.94495572 0.004656021 58.5 . . S100A10 1 151982915 151994390 N . N Y 0.099585278 57.16270186 0.173245481 39.6 . . S100A11 1 152032506 152047907 N . N Y 0.624002642 84.88163454 0.050106159 47 . . S100A12 1 153373706 153375649 N . N N 0.100541925 57.24952249 0.033529746 49.2 . . S100A13 1 153618787 153634092 N . N N 0.077075925 55.43207733 0.035153142 48.9 . . S100A16 1 153606886 153613145 N . N N 0.139014096 60.0972391 0.005638452 57.5 . . S100A2 1 153561108 153567890 N . N N 0.047063497 53.15737686 0.000135122 71 . . S100A3 1 153547329 153549372 N . N N 0.283486649 69.50859524 0.000978354 64.8 . . S100A5 1 153537147 153541765 N . N Y 0.21500187 65.32384094 4.81E-05 74 . . S100A7 1 153457744 153460701 N . N N 0.253474025 67.62169358 0.547478872 28.7 . . S100A7A 1 153416524 153423225 N . N N 1.020880255 93.03698559 0.031599277 49.4 . . S100A7L2 1 153437058 153439949 N . N N . . 0.558124074 28.5 . . S100A9 1 153357854 153361027 N . N Y 0.093038818 56.61283788 0.667440118 25.6 . . S100B 21 46598962 46605208 N . N Y 0.046106757 53.06476819 0.181611099 39.3 DFP . S100G X 16650158 16654670 N . N Y 0.242145304 67.0023731 0.141285757 41 . . S100P 4 6693069 6697170 N . N N 0.510496156 80.89367367 0.048649365 47.2 . . S100PBP 1 32816767 32858879 N . N N -0.402966415 24.21137929 0.947039389 15 . . S100Z 5 76850001 76921650 N . N N 0.108045035 57.83990276 0.009594703 55.1 . . S1PR3 9 88991447 89005010 N . N Y -0.122483898 40.59153788 0.07933389 44.5 DM . S1PR5 19 10512742 10517931 N . N Y 0.707640477 87.06951438 0.057413295 46.3 . . SAA1 11 18266174 18269977 N . N Y 0.821961205 89.56994849 0.181814611 39.2 DFP . SAA2-SAA4 11 18231423 18248635 N . N N . . . . . . SAA4 11 18112617 18236893 N . N N 0.436419446 77.71025062 0.014635941 53.3 . . SAAL1 11 18069935 18106091 N . N N 0.266866049 68.4667477 0.000128877 71.1 . . SAC3D1 11 65040901 65044828 N . N Y . . 4.62E-05 74.1 . . SACS 13 23328823 23433728 N . N N -3.947991709 0.219945592 6.15E-12 94.5 DM Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) SAE1 19 47113274 47210636 N . N N 0.473126302 79.46402732 0.988952422 10.2 DM? . SAFB2 19 5586999 5624046 N . N N -0.870740845 10.16958963 0.999582501 5 . . SAG 2 233307816 233347055 N . N Y 0.970409785 92.33084448 1.57E-08 88.4 DM . SAGE1 X 135889205 135913061 N . N N 1.124622721 94.23511026 1.64E-09 90.7 FTV . SAMD1 19 14087840 14091036 N . N N . . 0.204726949 38.6 . . SAMD10 20 63974113 63980008 N . N N -0.138599374 39.52075013 0.006051139 57.2 . . SAMD11 1 924880 944581 N . N N 1.798257609 98.18255484 1.35E-10 92.7 . . SAMD12 8 118189459 118621995 N . N N 0.158803293 61.65422238 0.001317243 63.7 . . SAMD13 1 84298366 84389957 N . N N 0.001088113 49.55142675 0.128562761 41.6 . . SAMD14 17 50110040 50129882 N . N N -0.328892939 27.7768131 0.02026443 51.6 . . SAMD15 14 77376689 77391497 N . N N 0.386109337 75.21560456 2.34E-06 81 . . SAMD3 6 130144315 130365425 N . N N 0.399201715 75.79440875 1.10E-06 82.4 . . SAMD4A 14 54567097 54793315 N . N N -0.158890404 38.10846791 0.999267732 5.6 FTV . SAMD4B 19 39342396 39385710 N . N N -1.344732532 4.358395555 0.998551353 6.5 . . SAMD5 6 147508927 147737547 N . N N 0.654972172 85.79035712 0.000898004 65.1 . . SAMD7 3 169911572 169939175 N . N N 0.098929771 57.09324536 6.78E-06 79 . . SAMD8 10 75099586 75182123 N . N N -0.333678613 27.54529143 0.004351697 58.7 . . SAMD9 7 93099513 93118023 N . N N -0.138652752 39.48023384 1.29E-23 99.2 DM Tumoral calcinosis, familial, normophosphatemic, 610455 (3) SAMD9L 7 93130055 93148369 N Viable N Y -1.331090998 4.474156393 3.80E-10 92 . . SAMHD1 20 36890229 36951843 N . N Y -0.800636123 11.57608381 1.50E-05 77 DM Aicardi-Goutieres syndrome 5, 612952 (3); Chilblain lupus 2, 614415 (3) SAMM50 22 43955421 44010531 N . N N -0.64961309 15.39619147 0.000727115 65.8 . . SAMSN1 21 14485228 14583402 N . N Y 0.041624995 52.67118134 0.075602358 44.7 . . SAP18 13 21140514 21149084 N . N N -0.034513598 46.96996006 0.045756241 47.5 . . SAP25 7 100572228 100573820 N . N N . . . . . . SAP30 4 173369969 173377532 N . N N -0.170525669 37.3618105 0.228585001 37.7 . . SAP30BP 17 75667116 75708062 N . N N -0.393703195 24.72072698 1.57E-05 76.9 . . SAP30L 5 154445957 154461054 N . N N -0.035470476 46.91207964 0.857185856 19.6 . . SAPCD1 6 31762799 31764851 N . N N 0.550880798 82.46802107 2.32E-07 85 . . SAPCD2 9 137062124 137070588 N . N Y . . 0.004799009 58.3 . . SAR1A 10 70147289 70170523 N . N N 0.048020238 53.25577357 0.630165514 26.6 . . SARAF 8 30063012 30083208 N . N N . . . . . . SARDH 9 133663560 133739955 N . N N 0.607842099 84.38386294 8.20E-10 91.2 DM [Sarcosinemia], 268900 (3) SARM1 17 28364356 28404049 N . N Y . . 9.19E-09 89 . . SARNP 12 55752463 55817756 N . N N -0.216501186 34.48515367 0.989074046 10.1 . . SARS 1 109213918 109238169 N . N N -0.352359149 26.65972102 0.999150651 5.7 . . SARS2 19 38915266 38930896 N . N N -0.471299039 21.3810268 5.31E-05 73.7 DM Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3) SART1 11 65961689 65979828 N . N N -1.059433781 7.07877525 0.99255633 9.3 DP . SART3 12 108522580 108561400 N . N N -1.237476756 5.226601841 0.991709385 9.5 DM . SASH1 6 148272304 148552050 N . N N -0.618884371 16.20651734 0.003254445 60 . . SASH3 X 129779979 129795201 N . N Y 0.113784984 58.30294611 0.891377605 18.1 . . SASS6 1 100083563 100132955 N . N N -0.526691349 19.14105458 5.00E-05 73.9 . ?Microcephaly 14, primary, autosomal recessive, 616402 (3) SAT1 X 23783173 23786226 N . N Y 0.092082157 56.56653354 0.811595279 21.3 DM . SAT2 17 7626234 7627876 N . N N 0.133424212 59.69786421 0.017616305 52.3 . . SATL1 X 85092287 85109048 N . N N 2.124507458 98.75557099 6.50E-12 94.5 DM? . SAXO1 9 18927658 19049354 N . N N . . . . . . SAXO2 15 82262810 82284930 N . N N . . . . . . SAYSD1 6 39104064 39115189 N . N N -0.030686146 47.24199803 0.000747904 65.7 . . SBF2 11 9778667 10294207 N . N N -2.841913245 0.682988945 0.38005409 33.3 DM Charcot-Marie-Tooth disease, type 4B2, 604563 (3) SBK1 16 28292519 28323849 N . N N -0.168611538 37.4717833 0.437577104 31.8 . . SBK2 19 55529733 55537089 N . N N 0.496592274 80.33223361 0.001474848 63.1 . . SBK3 19 55540656 55545543 N . N N . . . . . . SBNO1 12 123289109 123364843 N . N N -1.895178153 1.881113619 0.999999984 0.9 DP . SBSN 19 35523367 35528351 N . N N 0.506964925 80.73739654 0.035145281 48.9 . . SBSPON 8 73064540 73124088 N . N N 0.442157199 77.99386468 5.95E-05 73.4 . . SCAF1 19 49642125 49658642 N . N N -0.293795251 29.7794756 0.998787539 6.1 . . SCAF11 12 45919131 45992120 N . N N -0.532658834 18.86322857 0.999681331 4.7 . . SCAF4 21 31671033 31732075 N . N N -0.955052351 8.641546565 0.999999693 1.4 . . SCAF8 6 154733325 154834244 N . N N -2.018967888 1.591711524 0.999999979 0.9 . . SCAI 9 124942608 125143506 N . N N -0.705964203 13.78132778 0.999445289 5.3 . . SCAMP1 5 78360583 78479071 N . N Y . . 0.84227628 20.2 . . SCAMP2 15 74843730 74873365 N . N N 0.107238638 57.76465822 0.383700654 33.2 . . SCAMP3 1 155255979 155262430 N . N N -0.132857585 39.9027609 0.01289441 53.9 . . SCAMP4 19 1905214 1926013 N . N N 0.280765669 69.35810615 0.020951714 51.4 . . SCAMP5 15 74957219 75021496 N . N N 0.051847216 53.50465937 0.345427473 34.4 . . SCAND1 20 35953617 35959472 N . N N . . 0.158311342 40.2 . . SCAP 3 47413694 47477126 N . N N -2.189825079 1.296521387 0.02255475 51 FP . SCAPER 15 76347904 76905444 N . N N -1.00948976 7.744400069 0.039282898 48.4 . . SCARA3 8 27633868 27676776 N . N N 0.161018822 61.84522776 1.62E-07 85.5 . . SCARA5 8 27869882 27992727 N . N Y -0.175004808 37.08977253 0.066991777 45.3 . . SCARB1 12 124776856 124882668 Y Viable N Y -0.53515137 18.78219598 0.077224403 44.6 DM [High density lipoprotein cholesterol level QTL6], 610762 (3) SCARB2 4 76158737 76213893 N . N Y 0.506964925 80.73739654 0.072442869 44.9 DM Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) SCARF1 17 1633858 1645747 N . N Y 1.437873325 96.62557157 0.000660074 66.2 . . SCARF2 22 20424585 20437859 N Viable N Y . . . . DM Van den Ende-Gupta syndrome, 600920 (3) SCCPDH 1 246724047 246768137 N . N N 0.253623009 67.679574 0.011900703 54.2 . . SCD5 4 82629539 82798857 N . N N -0.341984971 27.1690687 0.005017086 58.1 . . SCEL 13 77535674 77645263 N . N Y 0.494980525 80.29171731 5.00E-12 94.7 . . SCFD1 14 30622112 30735812 N . N N -0.401052411 24.3502923 0.991579194 9.6 . . SCFD2 4 52872982 53366075 N . N N -0.338006426 27.36007409 1.87E-06 81.4 . . SCG2 2 223596940 223602503 N . N N -0.312777691 28.73184002 0.898323134 17.8 DFP . SCG3 15 51681353 51721031 N . N N -0.266954701 31.4637958 0.267523893 36.6 DFP . SCGB1A1 11 62405103 62423195 N . N Y 0.093038818 56.61283788 0.007661332 56.2 DFP . SCGB1C1 11 193080 194573 N . N N 0.938338578 91.83886091 3.34E-05 75 . . SCGB1C2 17 137526 139067 N . N N . . . . . . SCGB1D1 11 62190216 62193539 N . N N 0.389487678 75.3313654 1.19E-05 77.6 . . SCGB1D2 11 62242210 62244808 N . N N 0.237511303 66.66087862 0.096113681 43.4 FP . SCGB1D4 11 62296277 62299064 N . N N 0.145560638 60.65289113 0.002902192 60.5 . . SCGB2A1 11 62208668 62213939 N . N N 0.381028261 74.95514268 0.056401295 46.3 . . SCGB2A2 11 62270155 62273156 N . N N 0.30503986 70.79354055 0.008924277 55.4 . . SCGB2B2 19 34593329 34675699 N . N N 0.448557666 78.28905481 0.000675653 66.1 . . SCGB3A1 5 180590103 180591540 N . N N . . 0.452637902 31.3 . . SCGB3A2 5 147870682 147882191 N . N N 0.008591214 50.15917115 0.042427477 48 DFP {Asthma, susceptibility to}, 600807 (3) SCGN 6 25652201 25701783 N . N N 0.457163544 78.66527754 0.035946002 48.8 . . SCIMP 17 5208961 5234860 N . N Y 0.199995603 64.38039011 0.012575344 54 . . SCIN 7 12570577 12660179 N . N N 1.252833539 95.4563871 4.08E-16 97.5 . . SCLT1 4 128864921 129093607 N . N N 0.327041902 72.1826706 5.17E-12 94.6 . . SCLY 2 238060889 238099413 N . N Y 0.309165138 71.01927418 1.52E-06 81.9 . . SCMH1 1 41027200 41242154 N . N Y -0.167350159 37.57018001 0.524101684 29.3 . . SCML1 X 17737449 17754988 N . N N 0.321958851 71.87011634 0.948610392 14.9 . . SCML2 X 18239314 18354727 N . N N -0.490286222 20.58227702 0.998434048 6.6 . . SCML4 6 107704104 107824317 N . N N -0.125354587 40.43526075 0.268213055 36.5 . . SCN10A 3 38696802 38794010 N . N Y 0.37719157 74.77571338 6.14E-26 99.4 DM Episodic pain syndrome, familial, 2, 615551 (3) SCN11A 3 38845769 38950561 N . N Y -2.104108841 1.447010476 2.52E-19 98.5 . Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3); Episodic pain syndrome, familial, 3, 615552 (3) SCN2B 11 118161951 118176673 N . N Y -0.075704275 43.9775424 0.133477243 41.4 DM Atrial fibrillation, familial, 14, 615378 (3) SCN3B 11 123629187 123655244 N . N Y -0.024139966 47.63558488 0.347297034 34.3 DM Brugada syndrome 7, 613120 (3); Atrial fibrillation, familial, 16, 613120 (3) SCN4B 11 118133377 118152888 N . N N 0.182269088 63.36169474 0.001535227 62.9 DM Long QT syndrome-10, 611819 (3); Atrial fibrillation, familial, 17, 611819 (3) SCN7A 2 166403573 166494247 N . N Y 1.01607083 92.96174104 1.72E-15 97.2 . . SCNM1 1 151156664 151170297 N . N Y 0.082816117 55.93563697 4.73E-05 74 . . SCNN1D 1 1280436 1292029 N . N N 3.425005039 99.65850553 2.82E-15 97 . . SCOC 4 140257286 140385726 N . N N 0.068616116 54.74908838 0.280616506 36.2 . . SCP2 1 52927229 53051703 N . N Y -0.71346748 13.57295827 0.00013976 70.9 DM . SCP2D1 20 18813726 18814392 N . N N 0.200952107 64.44405857 0.031553448 49.4 . . SCPEP1 17 56978105 57006768 N . N Y -0.454530953 22.09874399 6.99E-08 86.6 . . SCRG1 4 173384701 173406380 N . N N 0.130554386 59.44897841 0.034529027 49 . . SCRN1 7 29920103 29990289 N . N N -0.296009812 29.68107889 0.065188552 45.5 . . SCRN2 17 47837692 47841333 N . N N 0.503288375 80.58111941 6.56E-07 83.2 . . SCRN3 2 174395730 174429575 N . N N 0.529474463 81.64611912 1.32E-06 82.2 . . SCRT1 8 144330565 144336281 N . N N -0.0579797 45.26827574 0.294251147 35.9 . . SCRT2 20 661596 676179 N . N N . . 0.364922305 33.8 . . SCT 11 626431 627143 N . N Y . . 0.406650722 32.6 FP . SCTR 2 119439843 119525301 N . N Y 0.760312099 88.31973143 1.96E-09 90.5 . . SCUBE2 11 9020391 9138114 N . N N -0.652995945 15.28621867 1.49E-13 96 DM? . SCUBE3 6 35214419 35253079 N . N Y -0.879200336 9.955432077 0.999983707 2.7 . . SCX 8 144266560 144268481 N . N Y . . . . . . SCYL1 11 65525077 65538704 N . N Y -0.146603776 38.95931007 0.007784407 56.1 . . SCYL2 12 100267140 100341724 N . N N -1.140063572 6.146900504 0.931828671 16 . . SCYL3 1 169849631 169894267 N . N N 0.031554464 51.95346414 0.547053808 28.7 . . SDAD1 4 75940950 75990962 N . N N 0.185441616 63.55270012 3.78E-09 89.9 . . SDC1 2 20200797 20225433 N . N Y 0.147623843 60.84968455 0.290469547 36 . . SDC2 8 96493351 96611780 N Viable N Y 0.269436731 68.66354112 0.579949601 28 . . SDC3 1 30869467 30908761 N . N Y 0.603699992 84.26231406 0.527916181 29.2 DP {Obesity, association with}, 601665 (3) SDC4 20 45325288 45348424 N . N Y -0.077618099 43.83284135 0.011803491 54.2 . . SDCBP 8 58552924 58582860 N . N N -0.097256408 42.28164612 0.000811572 65.5 . . SDCBP2 20 1309909 1329239 N . N N 1.125120265 94.25826243 0.410340822 32.5 . . SDCCAG3 9 136401922 136410609 N . N N 0.364557107 74.1158766 1.38E-07 85.7 . . SDE2 1 225982702 225999331 N . N N -0.066135668 44.67789547 5.17E-07 83.7 . . SDF2 17 28648356 28662189 N . N N -0.146102415 38.98246223 0.68281004 25.1 . . SDF2L1 22 21642261 21644298 N . N N . . 0.05429609 46.5 . . SDF4 1 1216908 1232031 N . N N 0.391698646 75.46449036 0.001309827 63.7 . . SDHAF1 19 35995199 35996315 N . N N . . 0.106593834 42.8 DM Mitochondrial complex II deficiency, 252011 (3) SDHAF2 11 61430042 61447529 N . N N 0.058393523 53.97927881 6.98E-05 72.9 DM Paragangliomas 2, 601650 (3) SDHAF3 7 97116590 97181763 N . N N . . . . . . SDHAF4 6 70566917 70589569 N . N N . . . . . . SDK1 7 3301448 4269000 N . N N -0.44980254 22.28974938 0.005015997 58.1 . . SDK2 17 73334384 73644089 N . N N 1.159195208 94.62869711 0.029034431 49.9 . . SDPR 2 191834302 191847255 N . N Y 0.236853976 66.63772646 0.000704633 65.9 . . SDR16C5 8 56300010 56320776 N . N N -0.506249788 19.96874457 0.00291744 60.4 . . SDR39U1 14 24439766 24442905 N . N N 1.476048459 96.84551716 7.41E-08 86.5 . . SDR42E1 16 81988855 82011488 N . N N 1.997865954 98.57035365 3.53E-07 84.3 . . SDR42E2 16 22165583 22191754 N . N N . . . . . . SDR9C7 12 56923154 56934405 N . N N -0.154409651 38.42681021 0.013528777 53.7 . . SDS 12 113392445 113426301 N . N N -0.350445024 26.76390577 0.005484262 57.7 . . SDSL 12 113422237 113438276 N Viable N Y 0.324977012 72.03796955 2.99E-09 90.1 . . SEBOX 17 28364268 28365244 N . N N 1.142854062 94.45505585 . . . . SEC11A 15 84669538 84716716 N . N N -0.20053791 35.44596863 0.173327555 39.6 . . SEC11C 18 59139477 59158836 N . N N 0.14651721 60.7454998 0.694287699 24.8 . . SEC13 3 10293131 10321178 N . N N -0.623428585 16.06181629 0.584365053 27.8 . . SEC14L1 17 77086716 77217101 N . N N -0.954382307 8.647334607 0.179640443 39.3 . . SEC14L2 22 30396857 30425317 N . N Y -0.055913898 45.41297679 4.31E-05 74.3 . . SEC14L3 22 30447959 30472049 N . N N 0.722795389 87.49204144 4.21E-18 98.2 . . SEC14L4 22 30488913 30505711 N . N N 0.737802049 87.79301962 5.60E-05 73.6 . . SEC14L5 16 4958317 5019158 N . N N -1.288233337 4.775134572 6.57E-10 91.5 . . SEC14L6 22 30522799 30546682 N . N N . . 0.045916184 47.5 . . SEC16A 9 136440096 136483759 N . N N 0.338092805 72.75568675 0.687007221 25 . . SEC16B 1 177923956 177984303 N . N Y 2.583853502 99.23019043 4.44E-13 95.6 . . SEC22A 3 123201927 123274130 N . N N -0.051281473 45.6908028 0.638909265 26.3 . . SEC22C 3 42547969 42601080 N . N N 0.078183267 55.57099033 1.72E-06 81.6 . . SEC23IP 10 119892711 119944658 N . N Y -1.078935525 6.818313365 0.373415108 33.5 . . SEC24A 5 134648789 134727823 N . N Y -1.112635851 6.430514557 1.31E-05 77.3 . . SEC24C 10 73744384 73772161 N . N N -0.795563292 11.66290444 0.99999234 2.4 . . SEC31A 4 82818661 82901166 N . N N -1.125734969 6.337905886 0.003699346 59.4 . . SEC31B 10 100486642 100519864 N . N N 1.064932107 93.55790936 1.30E-24 99.3 . . SEC61A1 3 128051641 128071683 N . N N -0.764231802 12.32274122 0.995608072 8.1 . . SEC61A2 10 12129637 12169961 N . N N -0.513752923 19.67355444 0.950042172 14.7 . . SEC61B 9 99222064 99230615 N . N N 0.031100532 51.89558372 0.742840233 23.4 . . SEC61G 7 54752250 54759974 N . N N 0.18116337 63.25172194 0.611529457 27.1 . . SEC62 3 169966635 169998373 N . N N -0.280200056 30.62452972 0.967257863 13.3 . . SECISBP2L 15 48988476 49046563 N . N N -0.87265272 10.12907333 0.101713052 43 . . SECTM1 17 82321024 82334074 N . N N 0.419647726 76.80731608 0.172404203 39.6 . . SEL1L2 20 13849247 13996443 N . N N 0.581190406 83.53302078 2.69E-11 93.7 . . SEL1L3 4 25747427 25863760 N . N N -0.374417221 25.7046941 0.628820332 26.7 . . SELE 1 169722641 169764705 N . N Y 0.090621427 56.49707704 1.66E-08 88.4 DP [Blood pressure regulation QTL], 145500 (2) SELENBP1 1 151364302 151372733 N Viable N Y 0.262233352 68.20049777 1.22E-06 82.3 . . SELK 3 53884410 53891988 N Viable N Y . . 0.003228653 60 . . SELL 1 169690667 169711698 N . N Y 0.105325255 57.63153325 0.001734631 62.4 DP . SELM 22 31104772 31120069 N . N Y 0.078989305 55.61150663 6.37E-07 83.3 . . SELO 22 50200979 50217616 N . N N 0.405098119 76.10117497 5.81E-15 96.8 . . SELP 1 169588849 169630193 N . N Y 1.052461262 93.39005614 4.62E-20 98.7 DFP {Atopy, susceptibility to}, 147050 (3) SELPLG 12 108622277 108633959 N . N Y 1.078330989 93.72576257 0.004954425 58.1 DFP . SELT 3 150602875 150630445 N . N N -0.118961255 40.82305956 0.14377878 40.9 . . SELV 19 39515113 39520686 N . N N . . 0.000392719 67.8 . . SEMA3B 3 50267558 50277546 N . N Y . . . . . . SEMA3D 7 84995553 85186855 N . N Y -0.329546751 27.75944898 3.53E-05 74.8 DM? . SEMA3E 7 83363906 83649010 N . N Y -0.707576422 13.71187127 0.030447872 49.5 DM CHARGE syndrome, 214800 (3) SEMA3G 3 52433053 52445085 N . N Y -0.92135498 9.197198588 6.08E-10 91.6 . . SEMA4A 1 156147366 156177752 N . N Y -0.260105961 31.87474677 0.615371621 27.1 DM Retinitis pigmentosa 35, 610282 (3); Cone-rod dystrophy 10, 610283 (3) SEMA4B 15 90160604 90229679 N . N Y -0.078119962 43.7981131 0.001608001 62.8 . . SEMA4D 9 89360787 89498130 N Viable N Y -0.535665729 18.75325577 0.995825192 8.1 DM? . SEMA4F 2 74654228 74683853 N . N N -0.612755288 16.41488684 6.74E-10 91.4 . . SEMA4G 10 100969518 100985871 N . N Y 0.222152762 65.73479192 0.000802235 65.5 DM? . SEMA5B 3 122909193 123028605 N . N Y 0.201712346 64.47299878 0.0003315 68.4 . . SEMA6A 5 116443616 116574934 N . N Y -1.168029185 5.921166869 0.999546537 5.1 . . SEMA6B 19 4542593 4559808 N . N Y -0.74891881 12.67581177 0.742578967 23.4 . . SEMA6C 1 151131685 151146664 N . N Y 0.085032132 56.10349019 5.65E-05 73.6 . . SEMA6D 15 47184101 47774223 N . N N -1.699081957 2.454129768 0.999469976 5.2 DM? . SEMA7A 15 74409289 74434467 N . N Y -0.098866514 42.17167332 0.025393401 50.4 DM [Blood group, John-Milton-Hagen system], 614745 (3) SEMG1 20 45206997 45209772 N . N Y 0.70411288 86.98269375 1.94E-14 96.5 DP . SEMG2 20 45221300 45224458 N . N N 0.318581939 71.67332291 6.77E-15 96.8 . . SENP3 17 7561875 7571969 N . N N . . 0.99599542 8 . . SENP3-EIF4A1 17 7563287 7578715 N . N N . . . . . . SENP5 3 196867856 196934714 N . N N -0.306231452 29.11385078 0.996261183 7.9 . . SENP7 3 101324205 101513241 N . N N -0.516168934 19.58094577 0.987260725 10.5 . . SENP8 15 72114258 72143688 N . N N -0.215544031 34.54882213 0.257288613 36.8 . . SEP15 1 86862445 86914424 N . N Y . . 0.428149535 32.1 . . SEPHS1 10 13317424 13348298 N . N N -0.461231059 21.83249407 0.979964055 11.7 . . SEPHS2 16 30443631 30446181 N . N N 0.0077858 50.10707878 0.001786053 62.3 . . SEPN1 1 25800176 25818224 N . N Y 0.315711326 71.46495341 1.08E-07 86 DM Muscular dystrophy, rigid spine, 1, 602771 (3); Myopathy, congenital, with fiber-type disproportion, 255310 (3) SEPSECS 4 25120014 25160442 N . N N -0.402009394 24.309776 2.65E-06 80.7 DM Pontocerebellar hypoplasia type 2D, 613811 (3) SEPT1 16 30378133 30395991 N . N N 0.109152052 57.94408752 0.002937466 60.4 . . SEPT10 2 109542982 109614206 N . N Y 0.169326965 62.4587602 0.002883286 60.5 . . SEPT11 4 76949703 77040384 N . N N -0.301752054 29.35694854 0.681901564 25.1 . . SEPT12 16 4777669 4788521 N . N Y -0.146754769 38.95352202 4.59E-10 91.8 DM Spermatogenic failure 10, 614822 (3) SEPT14 7 55793544 55862789 N . N N 0.869994186 90.58285582 4.97E-05 73.9 . . SEPT2 2 241315100 241354027 N . N N -0.522213436 19.34942409 0.866554503 19.2 . . SEPT3 22 41976272 41998221 N . N Y -0.067244365 44.5852868 0.069248203 45.1 . . SEPT4 17 58520250 58540818 N . N Y -0.075552304 44.00069457 0.01183686 54.2 . . SEPT5 22 19714464 19724772 N . N Y -0.817712941 11.2288013 0.914631983 17 . . SEPT6 X 119615724 119693370 N . N Y 0.158803293 61.65422238 0.948998032 14.8 . . SEPT8 5 132750817 132807241 N . N Y -0.81755696 11.25195346 0.954285718 14.4 . . SEPW1 19 47778572 47784686 N . N N 0.206542259 64.76240088 0.000743621 65.7 . . SERAC1 6 158109515 158168270 N . N N -0.313734483 28.63923135 0.002400981 61.3 DM 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) SERBP1 1 67407810 67430415 N . N N -0.595330347 16.85477803 0.999863114 4 . . SERF1A 5 70900665 70918530 N . N Y . . . . . . SERF1B 5 70025247 70043113 N . N N . . . . . . SERF2 15 43777087 43802589 N . N N 0.04897698 53.33680616 0.138975962 41.1 . . SERGEF 11 17788048 18013162 N . N N 0.316517317 71.52862187 2.22E-10 92.4 . . SERHL2 22 42553617 42574382 N . N N 0.807097444 89.28054639 1.17E-11 94.2 . . SERINC1 6 122443354 122471822 N . N N -0.341984971 27.1690687 0.074621456 44.8 . . SERINC2 1 31409565 31434680 N . N N 0.743543456 87.94929675 1.03E-06 82.5 . . SERINC3 20 44496221 44522109 N . N Y -0.499549597 20.20605429 0.590252232 27.7 . . SERINC4 15 43794162 43800221 N . N N 0.466579567 79.16883718 0.010759429 54.6 . . SERINC5 5 80111651 80256079 N . N N -0.298880801 29.53637784 0.000839904 65.4 . . SERP2 13 44373665 44397714 N . N N 0.015137522 50.6627308 0.229121363 37.7 . . SERPINA10 14 94280455 94293271 N . N Y 1.177793967 94.81970249 1.21E-05 77.6 DM . SERPINA11 14 94442464 94452790 N . N N -0.483586384 20.81958673 1.41E-07 85.7 . . SERPINA12 14 94487274 94517844 N . N Y 0.686235642 86.56595474 7.47E-06 78.8 . . SERPINA3 14 94592058 94624646 N . N Y 0.537128297 81.95288534 5.34E-12 94.6 DM Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3) SERPINA4 14 94561091 94569913 N . N N -0.139251787 39.47444579 1.58E-07 85.5 . . SERPINA5 14 94561442 94593120 N . N Y 0.528668245 81.61139087 0.052638583 46.7 . . SERPINA6 14 94304248 94323394 N . N Y -0.014571683 48.31278578 5.27E-07 83.6 DM Corticosteroid-binding globulin deficiency, 611489 (3) SERPINA7 X 106032442 106038738 N . N N 0.222654188 65.80424842 0.13249872 41.4 DM . SERPINA9 14 94462717 94479689 N . N N 1.507170908 96.98443017 1.79E-09 90.6 . . SERPINB1 6 2832332 2842006 N . N Y -0.479911471 20.98743995 0.020343016 51.6 . . SERPINB10 18 63897174 63936111 N . N N 0.948855468 91.99513804 6.27E-05 73.3 . . SERPINB11 18 63647579 63726432 N . N N . . 5.09E-07 83.7 FP . SERPINB12 18 63556160 63567011 N . N N 0.493871825 80.23962493 7.76E-17 97.7 . . SERPINB13 18 63586989 63604639 N . N N 0.425387042 77.11408231 0.000102299 71.8 . . SERPINB2 18 63871692 63903890 N . N Y 0.480778977 79.78236962 5.76E-05 73.5 DM? . SERPINB3 18 63637719 63661963 N . N N 1.156239112 94.56502865 8.69E-14 96.1 DP . SERPINB4 18 63637259 63644298 N . N Y 0.359772785 73.92487122 1.28E-11 94.1 DM? . SERPINB5 18 63476761 63505085 Y Viable N Y 0.194555337 64.09677606 0.450309367 31.4 FP . SERPINB6 6 2948159 2972165 N . N Y -0.007068709 48.91474214 0.035668799 48.9 DM ?Deafness, autosomal recessive 91, 613453 (3) SERPINB7 18 63752935 63805376 N . N N -0.045540401 46.17121028 7.67E-05 72.7 . Palmoplantar keratoderma, Nagashima type, 615598 (3) SERPINB8 18 63969925 64005667 N . N N 0.107389526 57.79938647 6.74E-07 83.2 . . SERPINB9 6 2887266 2903280 N . N Y -0.409512462 23.96828153 0.004898534 58.2 . . SERPINE1 7 101127089 101139266 N . N Y 0.046408913 53.12264861 0.219519977 38 DM Plasminogen activator inhibitor-1 deficiency, 613329 (3); {Transcription of plasminogen activator inhibitor, modulator of} (3) SERPINE2 2 223975112 224039319 N . N Y -0.479911471 20.98743995 0.643023919 26.2 . . SERPINE3 13 51335773 51364735 N . N N 0.004110017 49.83504081 0.00116718 64.1 . . SERPINF1 17 1761959 1777574 N . N Y 0.693738925 86.75696012 8.29E-05 72.4 DM Osteogenesis imperfecta, type VI, 613982 (3) SERPINF2 17 1742836 1755268 N . N Y -0.081141613 43.508711 0.423433542 32.2 DM Alpha-2-plasmin inhibitor deficiency, 262850 (3) SERPING1 11 57597387 57614853 N . N N -0.55398566 18.10499508 0.972837399 12.7 DM Angioedema, hereditary, types I and II, 106100 (3); Complement component 4, partial deficiency of, 120790 (3) SERPINI1 3 167735243 167825568 N . N Y 0.405597914 76.13011518 0.930874238 16.1 DM Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3) SERPINI2 3 167441789 167479004 N . N N 0.192642013 63.98680326 2.00E-10 92.5 DP . SERTAD1 19 40421592 40426025 N . N Y 0.164393154 62.10568965 0.04218449 48 FP . SERTAD2 2 64631621 64751005 N . N Y -0.441438866 22.67176014 0.736975237 23.5 . . SERTAD3 19 40440844 40444705 N . N N -0.328090038 27.8173294 0.06539173 45.5 . . SERTAD4 1 210232799 210246631 N . N N -0.064373744 44.83996064 0.641278925 26.3 . . SERTM1 13 36673912 36697839 N . N N 0.038603643 52.45123575 0.467667126 30.9 . . SESN1 6 108986437 109094819 N . N N -0.992051392 7.993285871 0.000638248 66.3 . . SESN2 1 28259527 28282491 N . N Y 0.12989848 59.41425016 0.000763709 65.6 DM? . SESN3 11 95165540 95232541 N . N Y -0.467776875 21.53730393 0.994296083 8.7 . . SET 9 128683424 128696400 N . N N 0.108045035 57.83990276 0.96336428 13.6 . . SETD2 3 47016429 47163967 Y Viable N Y -2.311555306 1.117092088 0.999992944 2.4 DM? . SETD3 14 99397746 99480889 N . N N -0.813729137 11.31562193 0.371891003 33.6 . . SETD4 21 36034541 36079389 N . N Y 0.143947707 60.52555421 2.55E-12 94.9 . . SETD6 16 58515479 58521181 N Viable N Y -0.249077884 32.50564334 1.02E-09 91.1 . . SETD9 5 56909260 56925532 N . N N -0.149777475 38.76251664 0.000533498 66.9 . . SETDB2 13 49444374 49495003 N . N N -0.139251787 39.47444579 0.043730109 47.7 DM? . SETMAR 3 4303304 4317567 N . N N 0.378455173 74.86832205 0.002131279 61.6 . . SETSIP 1 92074533 92075441 N . N N . . . . . . SETX 9 132261356 132354985 N Viable N Y -1.28540006 4.79828674 0.200249584 38.7 DM Amyotrophic lateral sclerosis 4, juvenile, 602433 (3); Spinocerebellar ataxia, autosomal recessive 1, 606002 (3) SEZ6 17 28954901 29006440 N . N Y 0.498809229 80.40747815 1.39E-05 77.2 DM? . SEZ6L 22 26169474 26383597 N Viable N Y 0.23635616 66.574058 0.928831047 16.2 . . SEZ6L2 16 29871159 29899547 N Viable N Y -1.040460587 7.373965388 0.13015316 41.6 DP . SF3A2 19 2236504 2248679 N . N N . . 0.774375362 22.5 . . SF3A3 1 37956975 37990921 N . N N -0.317715301 28.40770967 0.999895352 3.8 . . SF3B2 11 66050729 66069308 N . N N -1.27241241 4.931411703 0.999459845 5.2 . . SF3B3 16 70523788 70577670 N . N N -1.305152971 4.665161776 0.999962978 3.1 . . SF3B4 1 149923317 149928344 N . N N -0.243641967 32.83556173 0.918007232 16.8 DM Acrofacial dysostosis 1, Nager type, 154400 (3) SF3B5 6 144094881 144095573 N . N N 0.220592134 65.68848758 0.600475507 27.4 . . SF3B6 2 24067584 24076443 N . N N . . . . . . SFI1 22 31488688 31618586 N . N N 1.17670974 94.80812641 5.99E-25 99.3 . . SFMBT1 3 52903572 53046750 N . N N -0.550963897 18.18023962 0.995894208 8 . . SFMBT2 10 7158624 7411486 N . N N -0.550816557 18.18602767 0.99640777 7.8 . . SFR1 10 104122058 104126385 N . N N 0.371759592 74.49209932 0.000222755 69.5 . . SFRP1 8 41261958 41309497 N . N Y -0.507207153 19.92244024 0.465845742 31 . . SFRP2 4 153780592 153789120 N . N Y -0.104759418 41.81281472 0.053884519 46.6 . . SFRP4 7 37905932 38025695 N . N N -0.304469805 29.22961162 4.46E-05 74.2 . . SFRP5 10 97766751 97771952 N . N Y 0.313647588 71.30867627 1.17E-05 77.6 . . SFSWAP 12 131711081 131799737 N . N N -1.003896493 7.80806853 0.999425434 5.3 . . SFT2D1 6 166319728 166342591 N . N N 0.442966544 78.02280489 0.350193452 34.2 . . SFT2D2 1 168225938 168253025 N . N N 0.116504775 58.48816345 0.003949651 59.1 . . SFT2D3 2 127701508 127705242 N . N N . . . . . . SFTA2 6 30931353 30932175 N . N N 0.031100532 51.89558372 0.594981142 27.6 . . SFTA3 14 36473288 36513829 N . N N 0.296580367 70.28419286 0.294636982 35.8 . . SFTPA2 10 79555852 79560397 N . N N 0.702049624 86.94217746 0.014599505 53.3 DM Pulmonary fibrosis, idiopathic, 178500 (3) SFTPC 8 22156913 22164479 N . N Y 0.203821715 64.60033571 0.068448802 45.2 DM Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3) SFTPD 10 79937740 79982614 N . N Y 0.284591847 69.63014412 0.240356031 37.4 DM? . SFXN1 5 175477062 175529742 N . N N 0.116655069 58.50552758 0.58517755 27.8 . . SFXN2 10 102714538 102743492 N . N N 0.043538553 52.85061064 0.001084574 64.4 . . SFXN3 10 101031234 101041244 N Viable N Y -0.041864765 46.45482433 1.27E-11 94.1 . . SFXN4 10 119140767 119165667 N . N N -0.739806738 12.88996932 0.00014832 70.7 . Combined oxidative phosphorylation deficiency 18, 615578 (3) SFXN5 2 72942036 73075619 N . N N 0.41501409 76.61052266 0.014030451 53.5 . . SGCA 17 50164214 50175931 N . N Y 0.556617993 82.67639058 0.194446674 38.9 DM Muscular dystrophy, limb-girdle, type 2D, 608099 (3) SGCB 4 52020706 52038482 N . N Y -0.337353053 27.42374255 0.003600152 59.5 DM Muscular dystrophy, limb-girdle, type 2E, 604286 (3) SGCD 5 155870344 156767788 N . N Y 0.432741275 77.53082132 0.0023391 61.3 DM Muscular dystrophy, limb-girdle, type 2F, 601287 (3); Cardiomyopathy, dilated, 1L, 606685 (3) SGCE 7 94585230 94656209 N . N Y -0.668447919 14.80002315 0.001386322 63.4 DM Dystonia-11, myoclonic, 159900 (3) SGCG 13 23180952 23325165 N . N Y 0.313647588 71.30867627 0.006370384 57 DM Muscular dystrophy, limb-girdle, type 2C, 253700 (3) SGCZ 8 14089864 15238339 N . N N -0.411426546 23.88724894 0.001985816 61.9 DM? . SGIP1 1 66533383 66748299 N Viable N Y -0.955192685 8.635758523 0.999651093 4.8 . . SGK1 6 134169246 134318112 N . N Y -0.055762257 45.41876483 0.986448163 10.7 FP . SGK2 20 43558968 43588237 N . N N -0.21156288 34.83822423 2.93E-07 84.6 . . SGK223 8 8317736 8386498 N . N N 0.988917542 92.6376107 5.12E-20 98.7 . . SGK3 8 66712418 66862022 N . N Y -0.527801879 19.0889622 0.13683256 41.2 . . SGK494 17 28607964 28614200 N Viable N Y . . 2.61E-05 75.6 . . SGMS1 10 50305586 50625163 N . N Y -0.377739799 25.58314522 0.890866798 18.2 . . SGMS2 4 107824563 107915047 N . N Y -0.33080711 27.69578052 0.037128404 48.7 . . SGOL2 2 200510008 200583782 N . N Y 1.313345943 95.87891416 6.61E-05 73.1 . . SGPP2 2 222424517 222560948 N . N N -0.261365676 31.77635006 0.012273761 54.1 . . SGSH 17 80206716 80220923 N . N N 1.085986995 93.8125832 0.00010579 71.7 DM Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) SGSM1 22 24806169 24927578 N Viable N Y -0.654766065 15.21676217 0.977248923 12.2 . . SGSM2 17 2337498 2381058 N . N N 0.179358178 63.12438502 5.56E-08 86.8 DP . SGSM3 22 40370591 40410289 N . N N -1.388519298 4.005324999 1.01E-06 82.5 DM? . SGTA 19 2754714 2783371 N Viable N Y -0.45181342 22.19714071 0.470281213 30.8 . . SGTB 5 65665928 65723035 N . N N -0.10204113 42.00382011 0.991633523 9.6 . . SH2B2 7 102285091 102321711 N . N Y . . 0.011359941 54.4 . . SH2B3 12 111405948 111451623 N . N Y -0.059589522 45.15830295 0.00592219 57.3 DM? Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3); Erythrocytosis, somatic, 133100 (3) SH2D1A X 124346344 124373155 N . N Y 0.15865385 61.61949413 0.082608811 44.2 DM Lymphoproliferative syndrome, X-linked, 1, 308240 (3) SH2D1B 1 162395266 162412138 N . N Y 0.359474808 73.90171905 0.059883365 46 . . SH2D2A 1 156806243 156816862 N . N Y 0.322107219 71.89326851 8.43E-05 72.4 . . SH2D3A 19 6752160 6767588 N . N N 1.57934546 97.38380506 4.11E-06 79.9 . . SH2D4A 8 19313617 19396218 N . N Y -0.324913589 28.02569891 1.53E-18 98.3 . . SH2D4B 10 80537902 80646560 N . N N 0.770536433 88.57440528 3.12E-07 84.5 . . SH2D5 1 20719732 20732837 N . N Y 0.145861223 60.69919546 0.002653616 60.9 . . SH2D6 2 85418721 85437029 N . N N 0.746925466 88.0245413 0.003696498 59.4 . . SH2D7 15 78077808 78104909 N . N N 1.212444178 95.14962088 0.001420981 63.3 . . SH3BGR 21 39445855 39515506 N . N N 0.758252316 88.2734271 0.000352353 68.2 . . SH3BGRL X 81201943 81298547 N . N N 0.08362237 55.98772935 0.281416437 36.2 . . SH3BGRL2 6 79631283 79703659 N . N N 0.04051715 52.61908896 7.17E-06 78.9 . . SH3BGRL3 1 26279176 26281522 N . N N 0.319090009 71.70805117 0.795103829 21.8 . . SH3BP1 22 37634654 37666932 N . N N -0.209649144 34.96556115 0.152682968 40.5 . . SH3BP2 4 2793023 2841098 N Viable N Y -0.045388889 46.17699832 0.0031019 60.2 DM Cherubism, 118400 (3) SH3BP4 2 234951973 235055714 N . N N -0.034713313 46.94680789 0.080964436 44.4 . . SH3BP5 3 15254853 15341368 N Viable N Y -0.734063077 13.04045841 0.00902325 55.3 . . SH3BP5L 1 248810446 248826633 N . N N -0.312929834 28.70868785 0.140999406 41 . . SH3D19 4 151102751 151325632 N . N N 0.199490684 64.35723795 0.375087386 33.5 . . SH3D21 1 36306387 36324886 N . N N . . 0.000722998 65.9 . . SH3GL1 19 4360370 4400547 N . N Y -0.368169446 25.94779186 0.058636754 46.1 DM Leukemia, acute myeloid, 601626 (1) SH3GL2 9 17579082 17797129 N Viable N Y -0.384285668 25.21271054 0.916295307 16.9 . . SH3GL3 15 83447228 83618743 N . N Y -0.438721742 22.81646119 0.00035935 68.1 . . SH3GLB1 1 86704570 86748184 N . N Y -0.515667713 19.60409793 0.730421397 23.7 . . SH3GLB2 9 129007036 129028303 N . N N -0.088796495 42.91254269 0.370053036 33.6 . . SH3KBP1 X 19533975 19887601 N . N Y -0.113067189 41.2571627 0.998643128 6.3 . . SH3PXD2A 10 103594027 103855543 N . N N 0.505670648 80.66794004 0.232738023 37.6 . . SH3RF1 4 169094256 169271105 N . N N -0.721626953 13.35880072 0.046395528 47.4 . . SH3RF2 5 145936579 146081791 N . N N 0.300054882 70.50413845 1.79E-11 94 . . SH3RF3 2 109129348 109504632 N . N N . . 0.981100872 11.6 . . SH3TC1 4 8182072 8241803 N . N N 3.754077834 99.71638595 1.08E-27 99.5 . . SH3TC2 5 148923639 149063163 N Viable N Y 0.87559512 90.68125253 1.73E-12 95.1 DM Charcot-Marie-Tooth disease, type 4C, 601596 (3); Mononeuropathy of the median nerve, mild, 613353 (3) SH3YL1 2 217730 266398 N . N N 0.68226197 86.49071019 1.00E-05 78 . . SHANK1 19 50661827 50719450 N . N Y . . 0.999999761 1.3 DM . SHARPIN 8 144098633 144108124 N . N N 0.635476197 85.21734097 0.019887336 51.7 . . SHBG 17 7613946 7633383 N . N N -0.08305528 43.36400996 0.000188842 70 DM . SHC2 19 416583 460996 N . N Y 0.760312099 88.31973143 1.22E-05 77.5 . . SHC3 9 89005771 89178767 N . N N -0.60555081 16.60010418 0.457668719 31.2 . . SHC4 15 48823735 48963444 N . N N -0.384938162 25.17219425 1.17E-05 77.7 . . SHCBP1 16 46580554 46621626 N . N Y 0.163737564 62.07096139 5.53E-06 79.3 . . SHCBP1L 1 182899865 182953525 N . N N 0.715292071 87.27788389 7.09E-10 91.4 . . SHD 19 4278601 4290724 N . N N 0.121438731 58.82965793 5.18E-06 79.5 . . SHE 1 154469772 154502113 N . N N -0.669405164 14.77687098 0.721620119 24 . . SHF 15 45167214 45201175 N . N N 0.203015042 64.55981941 0.028083266 50 . . SHFM1 7 96481626 96709891 N . N N 0.128641213 59.32164149 0.418592332 32.3 DM Split hand/foot malformation 1 (4) SHISA3 4 42397839 42402487 N . N Y 0.097822207 56.98327256 0.000449562 67.3 . . SHISA4 1 201888680 201892306 N . N Y 0.383896931 75.09984372 0.001071482 64.4 . . SHISA5 3 48467798 48504826 N . N Y 0.381175578 74.97829484 9.94E-08 86.1 . . SHISA6 17 11241263 11564063 N . N N . . . . . . SHISA7 19 55428740 55442863 N . N N . . . . . . SHISA8 22 41909554 41914667 N . N N . . . . . . SHISA9 16 12901620 13240413 N . N N . . . . . . SHKBP1 19 40576851 40591399 N . N N -0.231050406 33.66903976 0.000346951 68.2 . . SHMT1 17 18327860 18363563 N Viable N Y -0.17868034 36.80615848 1.86E-07 85.3 DM? . SHMT2 12 57229327 57234935 N . N N -0.301598985 29.37431267 0.007487535 56.3 . . SHOX X 624344 659411 N . N N -0.114176312 41.19928228 0.73845761 23.5 DM Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3); Langer mesomelic dysplasia, 249700 (3) SHPK 17 3608262 3636322 N . N N -0.039799513 46.63425363 3.97E-06 80 . . SHPRH 6 145864245 145964423 N . N N -2.008502522 1.614863692 0.491308216 30.2 . . SHQ1 3 72749277 72861914 N . N N 0.325128069 72.04954564 1.17E-10 92.9 . . SHROOM1 5 132822141 132830898 N . N N -0.565970317 17.75771257 0.009595549 55.1 . . SHROOM2 X 9786456 9949443 N . N N 1.647557899 97.70214736 0.006945002 56.6 . . SHROOM4 X 50591647 50814302 N . N N 2.969633284 99.51959252 0.997425925 7.3 DM ?Stocco dos Santos X-linked mental retardation syndrome, 300434 (3) SHTN1 10 116881482 117126586 N . N N . . . . . . SI 3 164978898 165078495 N . N N -2.553621154 0.943450831 7.97E-26 99.4 DM Sucrase-isomaltase deficiency, congenital, 222900 (3) SIAE 11 124633113 124695707 N . N Y 0.719119456 87.41100886 2.59E-09 90.3 DM {Autoimmune disease, susceptibility to, 6}, 613551 (3) SIAH1 16 48356364 48448402 N . N Y 0.088405766 56.3118597 0.949054585 14.8 . . SIAH2 3 150741127 150763477 N . N Y -0.290574674 29.99363315 0.360182186 33.9 . . SIAH3 13 45777243 45851736 N . N N -0.754813354 12.47901835 0.001832081 62.2 . . SIDT1 3 113532296 113629578 N Viable N Y 0.588046365 83.77611854 5.03E-13 95.5 . . SIDT2 11 117178733 117197445 N . N Y -0.216851217 34.46778955 0.002572401 61 . . SIGIRR 11 405716 417455 N . N Y 0.824973219 89.63940499 0.005308889 57.8 . . SIGLEC1 20 3686970 3707128 N . N Y -0.403595511 24.19980321 1.62E-28 99.6 . . SIGLEC10 19 51410021 51417803 N . N Y 1.396681517 96.37089773 4.06E-06 79.9 . . SIGLEC11 19 49948985 49961172 N . N N 1.80384466 98.18834288 2.64E-08 87.8 . . SIGLEC12 19 51491357 51501789 N . N N 1.850792733 98.30989176 1.54E-10 92.6 FTV . SIGLEC14 19 51642553 51646801 N . N N 0.272306077 68.81981826 0.035662741 48.9 FP . SIGLEC15 18 45825512 45844080 N . N Y . . 1.08E-11 94.2 . . SIGLEC5 19 51611503 51645545 N . N Y 0.640259297 85.3446779 7.61E-05 72.7 . . SIGLEC6 19 51519525 51531856 N . N N 0.776275536 88.68437807 0.024724479 50.5 . . SIGLEC7 19 51142299 51153526 N . N N 0.282828845 69.49123112 8.93E-06 78.3 . . SIGLEC8 19 51450847 51458456 N . N Y 1.089661909 93.84731145 0.000488762 67.1 . . SIGLEC9 19 51124908 51136651 N . N N 0.632756059 85.13052034 0.000328335 68.4 . . SIGLECL1 19 51246348 51269330 N . N N 0.581850138 83.55617295 0.000332347 68.4 . . SIGMAR1 9 34634722 34637809 N . N Y -0.118004239 40.88093998 0.125068129 41.8 DM Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 21 43414515 43427128 N Viable N Y 0.070983022 54.94588181 0.993830465 8.9 . Epileptic encephalopathy, early infantile, 30, 616341 (3) SIK2 11 111602391 111730853 N . N Y -0.870886764 10.16380159 0.999836809 4.2 . . SIKE1 1 114769479 114780685 N . N N -0.237096056 33.23493662 0.072982309 44.8 . . SIMC1 5 176238367 176345991 N . N N 0.415970669 76.65103895 0.000207487 69.7 . . SIPA1 11 65585395 65650930 N . N Y 0.248184157 67.3612317 0.027905143 50.1 DP . SIPA1L1 14 71320449 71741229 N . N N -2.500210182 0.966602998 0.999999774 1.3 . . SIPA1L2 1 232397965 232561558 N . N N -2.158487147 1.36597789 0.999219706 5.6 . . SIPA1L3 19 37907228 38208372 N . N N 0.238108363 66.69560688 0.999676986 4.7 . . SIRPA 20 1894167 1940592 N Viable N Y 1.182578782 94.86600683 0.13772081 41.2 . . SIRPB1 20 1563521 1620061 N . N N 1.583173193 97.39538114 2.22E-09 90.4 . . SIRPB2 20 1470741 1491587 N . N N 0.785543295 88.88695954 0.014588095 53.3 . . SIRPD 20 1534251 1558843 N . N N 0.674758577 86.28812873 7.78E-05 72.6 . . SIRPG 20 1629152 1657779 N . N N 0.828799349 89.74937779 5.21E-08 86.9 . . SIRT2 19 38878555 38899862 N . N Y 0.642979476 85.46622678 1.08E-05 77.8 . . SIRT3 11 215458 236931 N Viable N Y 0.21706442 65.48590612 2.70E-05 75.5 DFP . SIRT4 12 120302316 120313249 N Viable N Y -0.09438571 42.50159171 1.81E-07 85.3 . . SIRT5 6 13574529 13615158 N . N Y 0.468492577 79.26144585 1.88E-05 76.4 DP . SIRT7 17 81911939 81921323 N . N Y -0.25099172 32.42461075 0.567108372 28.3 . . SIT1 9 35649295 35650950 N . N Y 0.344468409 73.11454535 0.035413132 48.9 . . SIVA1 14 104753100 104768494 N Viable N Y 0.111871637 58.12930486 0.313588965 35.3 . . SIX4 14 60709528 60724348 N . N Y -0.188902396 36.22735429 0.685504308 25 . . SIX5 19 45764785 45769226 N . N Y . . 0.310828643 35.4 DM Branchiootorenal syndrome 2, 610896 (3) SIX6 14 60508951 60512850 N . N Y 0.135337478 59.85414134 0.757754035 22.9 DM Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3) SKA1 18 50374995 50394173 N . N N 0.082816117 55.93563697 1.32E-06 82.2 . . SKA3 13 21153595 21176602 N . N N 1.03139556 93.17011055 3.00E-07 84.5 . . SKAP1 17 48133440 48430275 N . N N 0.358666204 73.88435492 0.00030184 68.6 . . SKAP2 7 26667062 26995239 N . N Y 0.281722177 69.41019853 0.909797278 17.3 . . SKIV2L2 5 55307760 55425581 N . N N -1.094084265 6.644672107 0.725400925 23.9 . . SKOR1 15 67819704 67834561 N . N N -0.413340789 23.74833594 . . . . SKP1 5 134148935 134177038 N . N N -0.044887353 46.22330266 0.224830619 37.8 . . SKP2 5 36151989 36184319 N . N Y -0.570906288 17.61301152 0.994258761 8.7 . . SLA 8 133036724 133103054 N . N Y -0.158237463 38.14319616 0.72295317 24 . . SLA2 20 36612318 36646216 N . N N -0.043778467 46.32748741 0.384130951 33.2 . . SLAIN1 13 77697854 77764242 N . N N 0.009699407 50.29229612 0.959443822 14 . . SLAIN2 4 48341322 48426212 N . N N -0.729431296 13.17937142 0.88343847 18.4 . . SLAMF1 1 160608100 160647295 N . N Y -0.147863581 38.90142965 0.135406432 41.3 . . SLAMF6 1 160485030 160523262 N . N Y -0.537219736 18.72431556 0.356879515 34 . . SLAMF7 1 160739057 160754821 N . N Y 0.360579228 73.94802338 0.006544626 56.9 . . SLAMF8 1 159826750 159837249 N . N Y 0.951577407 92.0298663 1.71E-06 81.6 . . SLAMF9 1 159951492 159954254 N . N N 0.207648094 64.90710193 0.007857832 56 . . SLBP 4 1692800 1712555 N . N N -0.24459911 32.77768131 0.515659458 29.5 DM . SLC10A1 14 69775417 69797289 N . N N 0.050236113 53.42362679 8.44E-16 97.3 FP . SLC10A2 13 103043998 103066846 N . N Y 0.55963777 82.75742316 1.61E-13 95.9 DM Bile acid malabsorption, primary, 613291 (3) SLC10A3 X 154487306 154490690 N . N N -0.488371748 20.65173352 0.629239799 26.7 . . SLC10A4 4 48483343 48489196 N . N Y -0.166697481 37.63384847 0.167299362 39.8 . . SLC10A5 8 81693607 81696174 N . N N 0.342853172 73.02193668 0.000395027 67.8 . . SLC10A6 4 86823468 86849263 N . N N 0.324020385 71.98008914 1.84E-06 81.5 . . SLC10A7 4 146253975 146521964 N . N N -0.134771456 39.75805985 0.028807428 49.9 . . SLC11A1 2 218382029 218396894 N . N Y 0.39089437 75.42397407 6.59E-12 94.5 DFP {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3); {Buruli ulcer, susceptibility to}, 610446 (3) SLC12A3 16 56865207 56915850 N . N Y -0.686553489 14.31382763 5.54E-18 98.1 DM Gitelman syndrome, 263800 (3) SLC12A4 16 67943474 67969601 N . N N -1.42305542 3.791167448 1.83E-07 85.3 . . SLC12A6 15 34229996 34338060 N . N Y -1.838949534 2.101059212 0.978179973 12 DM Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) SLC12A7 5 1050376 1112035 N . N Y -1.558988629 3.032933958 8.45E-11 93 . . SLC12A8 3 125082636 125212864 N . N N 0.07017815 54.90536551 7.93E-13 95.3 . . SLC12A9 7 100826820 100867009 N . N N -0.770327084 12.18961625 2.37E-06 81 . . SLC13A1 7 123113531 123199986 N . N Y 0.181614038 63.32696649 1.84E-09 90.6 . . SLC13A2 17 28473293 28497781 N . N Y -0.261062576 31.78792614 8.29E-07 82.8 FP . SLC13A3 20 46557823 46684467 N Viable N Y -0.312777691 28.73184002 0.053286803 46.6 . . SLC13A4 7 135681237 135729258 N . N N -0.543611442 18.44070151 0.915550851 17 . . SLC13A5 17 6684713 6713567 N . N Y -0.971302662 8.369508595 0.353400874 34.1 . Epileptic encephalopathy, early infantile, 25, 615905 (3) SLC14A1 18 45724127 45752520 N . N Y 0.833433098 89.87092667 1.90E-09 90.5 DM [Blood group, Kidd], 111000 (3) SLC14A2 18 45212995 45683686 N . N Y 0.239228122 66.79979163 8.43E-14 96.2 DP . SLC15A1 13 98683801 98752654 N . N Y -0.037734634 46.73265034 8.69E-08 86.3 DFP . SLC15A2 3 121894089 121944102 N . N Y -0.481522215 20.9527117 1.50E-10 92.7 . . SLC15A3 11 60937083 60952530 N Viable N Y 0.586779993 83.75296637 3.66E-07 84.2 . . SLC15A4 12 128793191 128823983 N . N N -0.092471964 42.67523297 2.99E-09 90.1 DP . SLC15A5 12 16188485 16277685 N . N N . . . . . . SLC16A10 6 111087503 111231194 N . N N -0.274457717 31.01811657 0.067607006 45.3 . . SLC16A11 17 7041630 7043923 N . N N 0.630694555 85.08421601 0.045918307 47.5 . . SLC16A12 10 89430299 89556641 N . N N -0.841981514 10.74839382 0.002018906 61.8 DM Cataract, juvenile, with microcornea and glucosuria, 612018 (3) SLC16A13 17 7036075 7040121 N . N N 0.061414866 54.25131678 7.51E-07 83 . . SLC16A14 2 230034974 230068999 N . N N 0.291288637 69.99479076 0.215983364 38.2 . . SLC16A2 X 74421461 74533917 N . N Y 0.225374457 65.97210164 0.934351643 15.9 DM Allan-Herndon-Dudley syndrome, 300523 (3) SLC16A3 17 82228397 82261129 N Viable N Y -0.471299039 21.3810268 0.325132712 35 DM . SLC16A4 1 110362848 110391082 N . N N -0.166544931 37.66857672 0.005835233 57.4 . . SLC16A5 17 75087727 75106162 N . N N 0.242594876 67.05446547 3.71E-05 74.7 . . SLC16A6 17 68267026 68291267 N . N N 0.098929771 57.09324536 0.205129421 38.6 . . SLC16A7 12 59596067 59789855 N . N N -0.028620813 47.39827516 0.001785766 62.3 DM? . SLC16A8 22 38078134 38084093 N . N Y . . 0.110164819 42.6 . . SLC16A9 10 59650761 59736002 N . N N -0.369126321 25.91885165 0.642448765 26.3 . . SLC17A1 6 25782897 25832059 N . N N 0.24435699 67.14707414 2.59E-10 92.2 DP . SLC17A2 6 25912754 25930726 N . N N 0.005066824 49.89292122 0.004669854 58.5 . . SLC17A3 6 25833066 25882286 N Viable N Y 0.337263633 72.67465416 9.88E-14 96.1 DM [Uric acid concentration, serum, QTL4], 612671 (3); {Gout susceptibility 4}, 612671 (3) SLC17A4 6 25754699 25781191 N . N N 0.435760317 7.77E+01 6.33E-06 79.1 FTV . SLC17A8 12 100357079 100422059 N . N Y -0.814685978 11.2982578 0.04492625 47.6 DM Deafness, autosomal dominant 25, 605583 (3) SLC17A9 20 62952647 62969585 N Viable N Y 0.41788394 76.71470741 5.27E-08 86.9 DM? Porokeratosis 8, disseminated superficial actinic type, 616063 (3) SLC18A1 8 20144855 20183206 N . N Y 0.885305739 90.83752966 1.89E-14 96.6 DFP . SLC18B1 6 132769370 132798553 N . N N -0.210606002 34.88452856 3.95E-10 91.9 . . SLC19A2 1 169463909 169486003 N . N Y 0.044495337 52.92585518 0.004285879 58.8 DM Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) SLC19A3 2 227685210 227718012 N . N Y 0.534257737 81.84291254 0.001631087 62.7 DM Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) SLC1A1 9 4490444 4587469 N Viable N Y -0.831456436 10.95097529 0.001271167 63.8 DM {?Schizophrenia susceptibility 18}, 615232 (3); Dicarboxylic aminoaciduria, 222730 (3) SLC1A4 2 64988477 65023865 N . N N -0.227525777 33.90056144 0.242897704 37.3 . . SLC1A5 19 46774883 46788594 N . N N 0.657986057 85.85402558 0.051811209 46.8 . . SLC1A6 19 14950034 15022990 N . N Y -0.104607368 41.83596689 0.928911024 16.2 . . SLC1A7 1 53087179 53142632 N . N Y 0.375888247 74.73519708 1.87E-05 76.4 . . SLC22A1 6 160121789 160158718 N . N Y 1.225843544 95.27116976 1.24E-13 96 FP . SLC22A10 11 63137867 63369718 N . N N 1.595465754 97.47062569 1.54E-14 96.6 . . SLC22A11 11 64555626 64572875 N . N N -0.226417441 33.95265382 5.80E-05 73.5 DFP . SLC22A12 11 64590641 64602353 N . N Y -0.090406755 42.76784164 4.90E-06 79.6 DM Hypouricemia, renal, 220150 (3) SLC22A13 3 38265812 38278315 N . N N 0.222956617 65.82161255 2.16E-15 97.1 . . SLC22A14 3 38282294 38318575 N . N N 1.579498756 97.3895931 9.57E-09 88.9 DFP . SLC22A15 1 115976498 116070054 N . N N 0.085837372 56.15558257 8.66E-06 78.4 . . SLC22A16 6 110424687 110476641 N . N N 1.005361963 92.82861608 2.09E-22 99.1 . . SLC22A17 14 23346306 23352912 N . N N -0.342941981 27.12276437 0.772286751 22.5 . . SLC22A18 11 2899721 2925246 N . N N 0.819382688 89.51785611 0.001923068 62 . . SLC22A18AS 11 2887780 2903740 N . N N . . . . . . SLC22A2 6 160171061 160277638 N . N Y -0.595983239 16.82004978 1.42E-09 90.9 DFP . SLC22A23 6 3268962 3457022 N . N N -0.657116328 15.15309371 0.366550903 33.7 . . SLC22A24 11 63079940 63144221 N . N N . . 0.000186761 70 . . SLC22A25 11 63163776 63229652 N . N N 0.062523198 54.31498524 4.63E-13 95.6 DM? . SLC22A3 6 160348268 160452581 N . N Y -0.483586384 20.81958673 3.32E-05 75 DM . SLC22A31 16 89195761 89201664 N . N N . . . . . . SLC22A4 5 132294443 132344206 N . N Y 0.283785611 69.53174741 4.64E-06 79.7 DM {Rheumatoid arthritis, susceptibility to}, 180300 (3) SLC22A5 5 132369752 132395614 N . N N 0.650633105 85.64565607 4.90E-09 89.6 DM Carnitine deficiency, systemic primary, 212140 (3) SLC22A6 11 62936385 62984983 N . N Y -0.139251787 39.47444579 2.19E-05 76 FP . SLC22A7 6 43295694 43305538 N . N N -0.357795969 26.4224113 3.72E-06 80.1 . . SLC22A8 11 62989154 63015839 N Viable N Y -0.003241475 49.17520403 1.50E-10 92.6 . . SLC22A9 11 63369789 63410294 N . N N 0.464011037 79.02992418 3.62E-14 96.4 DM? . SLC23A3 2 219161465 219170095 N . N N -0.378543229 25.54262893 0.002312618 61.4 . . SLC24A1 15 65611366 65660995 N . N N 0.264299709 68.3567749 0.000127201 71.2 DM Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3) SLC24A2 9 19507452 19786928 N . N Y -0.650419078 15.37882734 0.035059826 48.9 DM . SLC24A3 20 19212646 19722937 N . N N 0.338220438 72.790415 0.959518181 14 . . SLC24A5 15 48120972 48142672 N Viable N Y -0.156171384 38.30526133 3.20E-05 75 DM [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3); Albinism, oculocutaneous, type VI, 113750 (3) SLC25A1 22 19175575 19178830 N . N N -0.257690928 32.05996411 0.633538573 26.5 DM Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) SLC25A10 17 81712236 81721016 N . N N 0.102605765 57.4173757 0.002439368 61.2 . . SLC25A11 17 4937130 4940251 N . N N -0.544722892 18.39439718 0.666467127 25.6 . . SLC25A13 7 96120220 96322147 N . N Y -1.187955601 5.695433235 1.94E-15 97.1 DM Citrullinemia, adult-onset type II, 603471 (3); Citrullinemia, type II, neonatal-onset, 605814 (3) SLC25A14 X 130339888 130373361 N . N N -0.232464529 33.55327893 0.979191684 11.9 . . SLC25A15 13 40789412 40810111 N . N N 0.465623125 79.12832089 0.00124732 63.8 DM Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) SLC25A16 10 68477999 68527474 N . N N -0.604748305 16.61168027 0.000247608 69.2 . . SLC25A17 22 40769630 40819399 N . N N 0.040668219 52.64224113 0.024184844 50.6 . . SLC25A18 22 17563439 17590994 N . N N 0.155126864 61.40533657 0.011064687 54.5 . . SLC25A2 5 141302629 141304045 N . N N 0.609140858 84.45331944 0.036597354 48.7 . . SLC25A21 14 36677921 37172866 N Viable N Y 0.281722177 69.41019853 6.47E-07 83.3 . . SLC25A22 11 790475 798333 N . N N -0.170372579 37.39075071 0.568405565 28.3 DM Epileptic encephalopathy, early infantile, 3, 609304 (3) SLC25A23 19 6436079 6465203 N . N Y -0.889720408 9.799154946 0.076041695 44.7 . . SLC25A24 1 108134036 108200849 N . N N 0.160867203 61.83943972 4.90E-09 89.6 . . SLC25A25 9 128068201 128109245 N . N Y -1.493861919 3.414944724 0.973302049 12.6 . . SLC25A27 6 46652915 46678193 N . N N 0.228244069 66.13416681 0.160724478 40.1 . . SLC25A28 10 99610522 99620609 N Viable N Y -0.343096194 27.10540024 0.765079078 22.8 . . SLC25A29 14 100291111 100306547 N . N N 0.385809542 75.19824044 0.006060973 57.2 . . SLC25A30 13 45393316 45418455 N . N Y -0.03627546 46.84841118 8.39E-06 78.5 . . SLC25A31 4 127730378 127774299 N . N Y 0.298641418 70.42310586 3.02E-06 80.5 . . SLC25A32 8 103398635 103415189 N . N N -0.171329534 37.29814204 7.69E-07 83 . . SLC25A33 1 9539482 9585179 N . N N -0.02031261 47.87868264 0.451158319 31.4 . . SLC25A34 1 15736405 15741396 N . N N 0.33806995 72.74989871 0.000948153 64.9 . . SLC25A35 17 8287763 8295343 N Viable N Y -0.079379727 43.6881403 3.54E-09 89.9 . . SLC25A36 3 140941830 140979933 N . N N 0.150343606 61.02332581 0.883013619 18.4 . . SLC25A38 3 39383348 39397351 N . N Y 0.427150878 77.22984314 0.068217829 45.2 DM Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) SLC25A39 17 44319625 44324870 N . N N -0.316605038 28.47716617 0.000102385 71.8 DM? . SLC25A4 4 185143241 185150382 N . N Y -0.335593115 27.47004688 0.483364233 30.4 DM Progressive external ophthalmoplegia with mitochondrial DNA deletions 2, 609283 (3); Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3) SLC25A40 7 87833568 87876357 N . N N 0.098778904 57.07588123 2.15E-07 85.1 . . SLC25A41 19 6426037 6433779 N . N N 1.048316062 93.34375181 5.98E-05 73.4 . . SLC25A42 19 19063999 19112888 N . N N 0.288268772 69.80378538 0.20830845 38.5 . . SLC25A43 X 119399060 119454478 N . N N 0.299449341 70.47519824 0.052955024 46.7 DM? . SLC25A44 1 156193932 156212796 N . N N -0.250187888 32.45355096 0.247810862 37.2 . . SLC25A45 11 65375192 65383701 N . N N 0.687999311 86.60068299 7.20E-07 83.1 . . SLC25A46 5 110738136 110765161 N . N N -0.284831791 30.36985588 0.001176117 64.1 DM? Neuropathy, hereditary motor and sensory, type VIB, 616505 (3) SLC25A47 14 100323337 100330378 N . N N 0.275325819 69.02818776 3.18E-12 94.8 . . SLC25A48 5 135834649 135888637 N . N N 0.255386906 67.77218267 0.391014478 33 . . SLC25A5 X 119468400 119471319 N . N N 1.507838333 96.99021821 0.857861937 19.6 . . SLC25A51 9 37879400 37904353 N . N N -0.17611458 36.99137582 0.049200369 47.1 . . SLC25A52 18 31759562 31760880 N . N N 0.843658882 90.07929617 0.005855927 57.3 . . SLC25A53 X 104099214 104157027 N . N N 0.23383407 66.45250912 0.10191671 43 . . SLC25A6 X 1386152 1392724 N . N N -0.962994377 8.508421601 0.066919698 45.3 . . SLC26A1 4 979073 993440 N . N Y 1.911630167 98.41986456 4.01E-06 80 DM . SLC26A10 12 57619527 57626151 N . N N 1.212594302 95.15540893 1.17E-09 91 FTV . SLC26A11 17 80219699 80253500 N . N N 1.568322274 97.31434856 4.11E-10 91.9 FTV . SLC26A2 5 149960737 149993455 N . N N -0.300491102 29.42640505 2.17E-05 76 DM Diastrophic dysplasia, 222600 (3); Atelosteogenesis II, 256050 (3); Achondrogenesis Ib, 600972 (3); Epiphyseal dysplasia, multiple, 4, 226900 (3); Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3); De la Chapelle dysplasia, 256050 (3) SLC26A4 7 107660635 107717809 N . N Y 0.997060569 92.72443132 6.37E-13 95.4 DM Pendred syndrome, 274600 (3); Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3) SLC26A5 7 103352730 103446177 N . N Y -0.64946257 15.40197951 0.001375555 63.5 DM ?Deafness, autosomal recessive 61, 613865 (3) SLC26A6 3 48625723 48635493 N . N Y 0.168674455 62.42403195 3.31E-05 75 FP . SLC26A7 8 91209494 91398152 N . N Y 0.123503895 59.02066331 3.32E-08 87.5 . . SLC26A8 6 35943514 36024868 N . N Y 0.360079542 73.93065926 7.65E-08 86.4 DM Spermatogenic failure 3, 606766 (3) SLC26A9 1 205913048 205943460 N . N Y -0.052589802 45.56925392 0.002985459 60.3 FP . SLC27A1 19 17468769 17506168 N . N Y -1.247031557 5.139781212 0.000340154 68.3 . . SLC27A2 15 50182196 50236395 N . N Y -0.847419813 10.61526885 2.58E-05 75.6 . . SLC27A3 1 153774354 153780157 N . N N 2.324782382 99.01024483 7.80E-11 93.1 . . SLC27A5 19 58479512 58512413 N . N Y 0.267017721 68.47253574 7.71E-08 86.4 DM . SLC27A6 5 128538013 129033642 N . N N 0.51653284 81.12519535 2.86E-09 90.2 . . SLC28A1 15 84884654 84945796 N . N N 0.228698707 66.1457429 6.35E-07 83.3 DM . SLC28A2 15 45252230 45277845 N . N N 0.02692196 51.57724142 9.71E-12 94.3 FP . SLC28A3 9 84275457 84340683 N . N N 0.275477688 69.03397581 1.96E-17 98 FP . SLC29A1 6 44219505 44234151 N Viable N Y -0.432978714 23.05377091 0.964281535 13.5 DFP . SLC29A2 11 66362521 66372214 N . N N -0.189053899 36.22156624 1.32E-08 88.6 DM . SLC29A3 10 71319258 71363385 N . N Y 0.843001461 90.06193205 2.99E-08 87.6 DM Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) SLC29A4 7 5274369 5306870 N . N Y -0.047956921 45.97441685 0.001147488 64.2 DM? . SLC2A10 20 46709487 46736347 N . N N 0.183527791 63.44272733 0.008201737 55.8 DM Arterial tortuosity syndrome, 208050 (3) SLC2A11 22 23856703 23886309 N . N N 0.718162509 87.3762806 5.46E-12 94.6 . . SLC2A12 6 133988697 134052636 N . N N -0.903770636 9.503964809 0.019408411 51.8 . . SLC2A13 12 39755021 40106089 N . N N -0.25099172 32.42461075 0.956100909 14.3 . . SLC2A14 12 7812512 7891148 N . N N -0.103650534 41.89963535 0.989967414 9.9 . . SLC2A4 17 7281667 7288257 N . N Y -0.881260137 9.93227991 0.135386793 41.3 DM . SLC2A4RG 20 63739861 63743505 N . N N 0.251709849 67.54644904 0.007944387 56 . . SLC2A5 1 9035107 9088478 N Viable N Y 0.457312874 78.67106558 5.68E-05 73.5 . . SLC2A6 9 133471095 133479137 N . N N 0.300705268 70.56780691 0.000366664 68 . . SLC2A7 1 9003300 9026345 N . N N 1.131009411 94.33929502 2.99E-17 97.9 . . SLC30A10 1 219685427 219958647 N . N N -0.180746515 36.69039764 0.921869998 16.6 DM Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) SLC30A2 1 26037252 26046133 N . N N 0.246119954 67.25704694 0.708283236 24.4 DM Zinc deficiency, transient neonatal, 608118 (3) SLC30A3 2 27253684 27275817 N . N Y 1.036986567 93.22220293 0.646083872 26.2 DM? . SLC30A5 5 69093646 69131069 N . N Y -0.085774145 43.14406436 0.230512232 37.7 DM? . SLC30A6 2 32165841 32224379 N . N N 0.047365707 53.22683336 0.012659612 54 . . SLC30A7 1 100896076 100981753 N . N N -0.2153906 34.56618626 0.028992047 49.9 . . SLC30A8 8 116950273 117176714 N . N Y 0.48445544 79.89234242 1.80E-09 90.6 DP {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) SLC30A9 4 41990472 42090457 N . N N -0.498592618 20.25235863 0.001423485 63.3 . . SLC31A2 9 113150942 113164137 N . N N 0.495489526 80.30908144 2.78E-05 75.4 . . SLC33A1 3 155821024 155854429 N . N Y -0.381414283 25.35741159 0.100521118 43.1 DM Spastic paraplegia 42, autosomal dominant, 612539 (3); Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) SLC34A3 9 137230757 137236554 N . N Y 0.601137479 84.13497714 2.03E-11 93.9 DM Hypophosphatemic rickets with hypercalciuria, 241530 (3) SLC35A2 X 48903182 48911958 N . N N 0.05935026 54.0603114 0.780526259 22.3 DM Congenital disorder of glycosylation, type IIm, 300896 (3) SLC35A3 1 99969789 100026979 N . N N -0.267108277 31.41749146 0.069315375 45.1 . ?Arthrogryposis, mental retardation, and seizures, 615553 (3) SLC35A4 5 140564456 140569103 N . N N 0.006980435 50.03762227 0.000744269 65.7 . . SLC35A5 3 112561709 112585577 N . N N 0.082010267 55.87196851 0.001412251 63.3 . . SLC35B1 17 49700943 49709014 N . N N 0.125114793 59.14221219 0.013286269 53.7 . . SLC35B2 6 44254096 44257890 N . N N -0.248121003 32.57509984 0.70003825 24.6 . . SLC35B3 6 8413068 8435483 N . N N 0.132617807 59.62261967 0.000566464 66.7 . . SLC35B4 7 134289332 134317051 N . N N -0.118808507 40.85199977 4.54E-06 79.7 . . SLC35C2 20 46345980 46364458 N . N N -0.356034079 26.53238409 0.04714901 47.3 . . SLC35D2 9 96320706 96383710 N . N N -0.121679336 40.63205418 9.13E-05 72.2 . . SLC35D3 6 136922264 136925639 N . N N -0.063416885 44.9036291 0.149614411 40.6 . . SLC35E1 19 16549831 16572382 N . N N -0.392745948 24.81333565 0.09684283 43.4 . . SLC35E2 1 1724838 1745992 N . N N 1.158817501 94.62290907 0.374305908 33.5 . . SLC35E2B 1 1659529 1692728 N . N N . . 0.621002459 26.9 . . SLC35E3 12 68746106 68793964 N . N N -0.339267298 27.29640563 0.000406779 67.7 . . SLC35E4 22 30635652 30669016 N . N N 0.004110017 49.83504081 0.032252529 49.3 . . SLC35F1 6 117907526 118317676 N . N N 0.017202414 50.84794814 0.38850627 33.1 . . SLC35F2 11 107790991 107928293 N . N N 0.503139072 80.5521792 0.009521677 55.2 . . SLC35F3 1 233904933 234324516 N . N N -0.583998323 17.25415292 0.894523108 18 . . SLC35F4 14 57563922 57982194 N . N N . . 0.009692574 55.1 . . SLC35F5 2 113705011 113756823 N . N N 0.046408913 53.12264861 0.001215718 64 . . SLC35F6 2 26764284 26781231 N . N Y -0.481825845 20.92377149 0.016130758 52.8 . . SLC35G1 10 93893973 93956062 N . N N -0.294249011 29.74474735 0.917135938 16.9 . . SLC35G2 3 136818647 136855892 N . N N -0.041864765 46.45482433 0.066395336 45.4 . . SLC35G3 17 35192520 35194523 N . N N 0.203971741 64.62927592 0.029034747 49.9 . . SLC35G5 8 11330888 11332208 N . N N 2.153725392 98.7845112 0.027484635 50.1 . . SLC35G6 17 7481332 7483496 N . N N 1.402916795 96.39983793 0.000990015 64.7 FTV . SLC36A1 5 151437046 151492381 N . N N -0.39913856 24.4892053 0.023472432 50.8 . . SLC36A2 5 151314978 151347590 N . N N 0.671229099 86.21288418 1.41E-06 82.1 DM Iminoglycinuria, digenic, 242600 (3); Hyperglycinuria, 138500 (3) SLC36A3 5 151276762 151303766 N . N N 0.391698646 75.46449036 1.19E-06 82.3 . . SLC36A4 11 93144171 93197964 N . N N 0.456356165 78.6189732 2.70E-09 90.2 . . SLC37A1 21 42496008 42581440 N . N N 0.104670547 57.58522892 0.028612842 49.9 . . SLC37A2 11 125063067 125090312 N . N N 0.151602096 61.11014644 5.01E-10 91.8 . . SLC37A3 7 140293693 140404433 N . N N -0.085774145 43.14406436 7.16E-08 86.5 DM? . SLC38A1 12 46183063 46270017 N . N N -0.495874865 20.37969555 0.975432123 12.4 . . SLC38A10 17 81245000 81295547 N . N Y 0.267800601 68.54199224 4.09E-08 87.3 . . SLC38A11 2 164896186 164955525 N . N N -0.29042075 30.03993749 1.93E-06 81.4 . . SLC38A2 12 46358189 46372867 N . N N -0.234071877 33.43751809 0.969357 13.1 . . SLC38A3 3 50205246 50221486 N . N N . . . . . . SLC38A4 12 46764761 46832408 N . N N 0.243400254 67.11234589 0.942982186 15.4 . . SLC38A5 X 48458537 48470256 N . N N 0.270393157 68.7156335 0.976708482 12.2 . . SLC38A6 14 60981114 61083733 N . N N 0.34380991 73.08560514 6.11E-16 97.4 . . SLC38A7 16 58665109 58685104 N . N N -0.159041945 38.09689182 0.031405693 49.5 . . SLC38A8 16 84009667 84042636 N . N N 0.862955727 90.42079065 . . . Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) SLC38A9 5 55625845 55773194 N . N N 0.076420824 55.39156103 0.755167399 23 . . SLC39A1 1 153959099 153968184 N . N Y 0.00123959 49.58036696 0.16707683 39.9 . . SLC39A10 2 195575977 195737702 N . N N -1.128880783 6.291601551 0.99785064 7 . . SLC39A11 17 72645949 73092712 N . N N 0.18146271 63.30960236 7.78E-05 72.6 . . SLC39A12 10 17951839 18043292 N . N N 1.012865555 92.91543671 0.000292986 68.7 . . SLC39A13 11 47407132 47416501 N . N Y -0.220022777 34.31151242 0.011852031 54.2 DM Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3) SLC39A14 8 22367249 22434129 N . N Y -0.129986883 40.1111304 0.314629296 35.3 . . SLC39A2 14 20999255 21001871 N . N Y 0.891548555 90.97644267 0.000671706 66.1 . . SLC39A3 19 2732204 2740152 N . N Y -0.58863046 17.126816 0.060846454 45.9 . . SLC39A5 12 56230049 56237846 N Viable N Y 0.502483645 80.53481507 1.21E-07 85.9 DM? Myopia 24, autosomal dominant, 615946 (3) SLC39A6 18 36108532 36129385 N . N N -1.022871602 7.56497077 0.00076185 65.7 DFP . SLC39A9 14 69398015 69462388 N . N N -0.069158154 44.44637379 0.529198523 29.2 . . SLC3A1 2 44275458 44321494 N . N Y -0.046043433 46.13069399 7.55E-16 97.3 DM Cystinuria, 220100 (3) SLC41A1 1 205789093 205813748 N . N N -1.029569457 7.489726226 0.705784065 24.5 DM? . SLC41A2 12 104802553 104958744 N . N N -0.587827164 17.15575621 0.913051821 17.1 . . SLC41A3 3 126006355 126101561 N . N Y -0.402814388 24.22295537 0.00013967 70.9 . . SLC43A1 11 57484534 57515786 N . N N -0.297771627 29.58268218 7.85E-05 72.6 . . SLC43A2 17 1569267 1628886 N . N N -0.165588061 37.68594085 0.061842704 45.8 . . SLC43A3 11 57406954 57427580 N . N N 0.01926743 51.03895352 0.000317449 68.5 . . SLC44A1 9 105244622 105439171 N Viable N Y -0.376629375 25.62366152 0.999253571 5.6 . . SLC44A2 19 10602457 10644559 N . N N -0.678519363 14.54534931 0.041464588 48.1 DFP . SLC44A3 1 94820342 94895246 N . N N 1.00712149 92.85755629 1.82E-24 99.3 . . SLC44A4 6 31863192 31879046 N . N N 0.056933905 53.86351797 8.28E-08 86.4 . . SLC44A5 1 75202131 75611116 N . N Y -0.682345388 14.45274064 0.03422869 49 . . SLC45A1 1 8317826 8344167 N . N N -0.686833039 14.30803959 0.045189256 47.6 . . SLC45A2 5 33944616 33984730 N . N N 0.258557786 67.96318805 7.86E-05 72.6 DM Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3); [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3); [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3) SLC45A3 1 205657851 205680459 N Viable N Y -0.161760738 37.87694623 0.036849535 48.7 . . SLC45A4 8 141207166 141308305 N . N N -0.040302983 46.59373734 0.00458961 58.6 . . SLC46A1 17 28394756 28407197 N . N Y . . 0.104422521 42.9 DM Folate malabsorption, hereditary, 229050 (3) SLC46A2 9 112878920 112890913 N . N Y 0.497698833 80.36696186 0.000292934 68.7 . . SLC46A3 13 28700064 28718970 N Viable N Y 0.173959705 62.80604272 1.30E-07 85.8 . . SLC47A1 17 19495385 19579034 N Viable N Y -0.12983522 40.11691845 1.22E-09 91 FP . SLC47A2 17 19678288 19718979 N Viable N Y 0.34300494 73.03351276 9.02E-14 96.1 FP . SLC48A1 12 47753916 47782753 N . N N . . 0.437511991 31.8 . . SLC4A10 2 161424332 161985282 N . N Y -1.096952708 6.615731898 0.002635544 60.9 DM . SLC4A11 20 3227417 3239190 N . N Y -0.63034459 15.86502286 1.37E-08 88.5 DM Corneal endothelial dystrophy 2, autosomal recessive, 217700 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3); Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) SLC4A1AP 2 27663471 27694976 N . N N -0.867061369 10.25641026 7.74E-07 83 . . SLC4A3 2 219627327 219641980 N . N Y -0.413556885 23.7425479 0.21842022 38.1 DM . SLC4A5 2 74216242 74343414 N . N Y -1.403400722 3.906928286 1.37E-07 85.7 . . SLC4A8 12 51391317 51515763 N . N Y -1.740562451 2.315216762 0.999867374 4 . . SLC4A9 5 140360202 140375143 N . N Y 0.220238608 65.65375933 5.69E-18 98.1 . . SLC50A1 1 155135344 155138857 N . N N 0.103411903 57.457892 0.130229792 41.6 . . SLC51A 3 196211487 196243178 N . N Y -0.09438571 42.50159171 0.057568812 46.2 . . SLC51B 15 65045370 65053396 N . N N 0.129597795 59.37952191 0.222197462 37.9 . . SLC52A1 17 5032600 5052009 N . N N 0.534257737 81.84291254 2.74E-05 75.4 . Riboflavin deficiency, 615026 (3) SLC5A10 17 18950345 19022595 N . N Y -0.507709403 19.89928807 3.66E-12 94.8 . . SLC5A11 16 24845841 24911628 N . N N 0.234287607 66.48144933 1.50E-06 81.9 FP . SLC5A12 11 26667019 26723427 N . N N 0.657179433 85.82508537 2.15E-05 76 . . SLC5A2 16 31483002 31490860 N . N Y -1.534926473 3.171846964 8.35E-11 93.1 DM Renal glucosuria, 233100 (3) SLC5A4 22 32218476 32255341 N . N N 1.217381812 95.21328934 2.60E-13 95.8 . . SLC5A5 19 17871973 17895174 N . N N -0.88780693 9.845459281 0.740011195 23.5 DM Thyroid dyshormonogenesis 1, 274400 (3) SLC5A8 12 101155493 101210407 N . N Y 0.34300494 73.03351276 2.86E-11 93.7 . . SLC5A9 1 48222685 48248644 N . N N 1.531758561 97.10597905 6.42E-13 95.4 . . SLC6A1 3 10992724 11039247 N . N Y -0.887002101 9.857035365 0.999301879 5.5 DM? Myoclonic-atonic epilepsy, 616421 (3) SLC6A12 12 190077 214570 N . N N 0.587736767 83.7703305 7.90E-07 83 DP . SLC6A13 12 220621 262873 N . N Y -0.08466623 43.21930891 1.86E-08 88.2 DM? . SLC6A14 X 116436622 116461458 N . N Y -0.389874437 24.9580367 0.986093843 10.8 DP {Obesity, susceptibility to, BMIQ11}, 300306 (3) SLC6A15 12 84859488 84913615 N . N Y -0.385894816 25.137466 0.002262596 61.5 . . SLC6A16 19 49289638 49325225 N . N N -0.550963897 18.18023962 4.48E-11 93.4 . . SLC6A17 1 110150486 110202202 N . N N -1.263952019 5.01244429 0.962734836 13.7 . Mental retardation, autosomal recessive 48, 616269 (3) SLC6A18 5 1225355 1246189 N . N Y 1.336648666 96.02940325 1.67E-22 99.1 FP . SLC6A19 5 1201595 1225117 N . N Y -0.543313266 18.46964172 8.52E-18 98.1 DM Hartnup disorder, 234500 (3); Iminoglycinuria, digenic, 242600 (3); Hyperglycinuria, 138500 (3) SLC6A2 16 55655604 55706192 N . N Y -0.279895326 30.63610581 0.2771183 36.3 DM Orthostatic intolerance, 604715 (3) SLC6A20 3 45755450 45796535 N . N N -0.240466779 33.02656711 6.45E-10 91.5 FP Hyperglycinuria, 138500 (3); Iminoglycinuria, digenic, 242600 (3) SLC6A3 5 1392790 1445430 N Viable N Y -0.903770636 9.503964809 0.997036902 7.5 DM {Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 613135 (3) SLC6A6 3 14402576 14489349 N . N Y -0.552071566 18.15129942 0.98227565 11.4 . . SLC6A7 5 150189957 150222788 N . N N -0.307037536 29.0328182 7.15E-06 78.9 . . SLC6A8 X 153688099 153696593 N . N N 0.099735608 57.19164207 0.991889603 9.5 DM Cerebral creatine deficiency syndrome 1, 300352 (3) SLC7A11 4 138164097 138242349 N Viable N Y 0.107389526 57.79938647 0.000970109 64.8 . . SLC7A13 8 86214052 86321146 N Viable N Y 0.982696723 92.55079007 4.71E-15 96.9 . . SLC7A14 3 170459584 170586074 N . N N -0.32476418 28.03727499 0.332594382 34.8 . Retinitis pigmentosa 68, 615725 (3) SLC7A2 8 17497088 17570573 N . N Y -0.743038067 12.79157261 1.17E-08 88.7 DM . SLC7A3 X 70925582 70931125 N . N N 0.253623009 67.679574 0.967794266 13.2 . . SLC7A4 22 21028718 21032840 N . N N 0.229655803 66.19204723 0.000100466 71.9 . . SLC7A6 16 68264516 68301823 N . N N -0.203103007 35.27811541 0.0224285 51.1 . . SLC7A6OS 16 68284503 68310951 N . N N 0.593178019 83.91503154 0.807327025 21.4 . . SLC7A8 14 23125295 23183674 N . N Y -0.251796722 32.34936621 0.00016618 70.4 . . SLC7A9 19 32830509 32869766 N . N Y -0.169263725 37.45441917 0.246082408 37.2 DM Cystinuria, 220100 (3) SLC8A2 19 47428017 47472168 N . N N -1.295075174 4.723042195 . . . . SLC8A3 14 70044217 70189070 N Viable N Y -1.078935525 6.818313365 0.621079527 26.9 . . SLC8B1 12 113298759 113359493 N . N N -0.021923169 47.79765005 5.48E-10 91.6 DM? . SLC9A2 2 102619707 102711318 N . N Y -1.141975821 6.123748336 0.481161337 30.5 . . SLC9A3 5 473310 524332 N Viable N Y -0.017139182 48.09284019 0.988153998 10.4 . . SLC9A3R2 16 2025356 2039026 N . N N . . 0.022703762 51 . . SLC9A4 2 102473303 102533972 N Viable N Y -0.427895937 23.19268392 1.58E-06 81.8 . . SLC9A5 16 67237683 67272190 N . N N -0.648506122 15.42513168 0.036251926 48.8 . . SLC9A6 X 135985424 136047269 N . N Y -0.71825438 13.44562135 0.975667934 12.3 DM Mental retardation, X-linked syndromic, Christianson type, 300243 (3) SLC9A7 X 46599252 46759172 N . N N -0.123440781 40.55680963 0.953699987 14.4 . . SLC9A8 20 49812713 49892242 N . N Y -1.237761967 5.215025757 2.82E-05 75.3 . . SLC9A9 3 143265222 143848531 N . N N -0.716036094 13.50928981 2.48E-08 87.9 DM ?{Autism susceptibility 16}, 613410 (3) SLC9B1 4 102885048 103019739 N . N N 0.594283197 83.96133588 8.49E-05 72.4 . . SLC9B2 4 103019868 103085829 N Viable N Y 0.6112032 84.52277594 0.067056662 45.3 . . SLC9C1 3 112140887 112294258 N . N Y 0.110717303 58.01354402 7.82E-11 93.1 DM? . SLC9C2 1 173500464 173603094 N . N N 0.494178127 80.25120102 1.19E-06 82.3 . . SLCO1A2 12 21264600 21419594 N . N Y -0.157933655 38.16056028 5.58E-15 96.8 FP . SLCO1B1 12 21131202 21239246 N . N N 0.468796761 79.26723389 3.45E-16 97.5 DM Hyperbilirubinemia, Rotor type, digenic, 237450 (3) SLCO1B3 12 20810702 20916911 N . N Y 0.130202332 59.4200382 9.24E-17 97.7 DM Hyperbilirubinemia, Rotor type, digenic, 237450 (3) SLCO1B7 12 21015696 21092745 N . N N 1.480983252 96.87445737 4.92E-17 97.8 . . SLCO1C1 12 20695355 20753386 N . N Y -0.337049831 2.74E+01 7.62E-06 78.7 DM? . SLCO2B1 11 75100563 75206549 N . N Y -0.001176377 49.32569312 0.003353563 59.9 FP . SLCO3A1 15 91853695 92172435 N . N N -0.856836351 10.44741564 0.732171683 23.7 . . SLCO4A1 20 62642445 62685785 N . N N 0.830067567 89.78989408 5.34E-07 83.6 . . SLCO4C1 5 102233986 102296549 N . N N -0.784523017 11.86548591 1.37E-06 82.1 . . SLCO5A1 8 69667047 69835064 N . N N -0.954236861 8.658910691 1.52E-05 77 . . SLCO6A1 5 102371782 102499016 N . N N 0.740826586 87.86247612 2.71E-06 80.7 . . SLF1 5 94618347 94739436 N . N Y . . . . . . SLF2 10 100912569 100965136 N . N N . . . . . . SLFN11 17 35350305 35373701 N . N N 2.080750738 98.70926666 7.42E-16 97.3 . . SLFN12 17 35411060 35433283 N . N N 0.21721532 65.4974822 5.04E-10 91.7 . . SLFN12L 17 35464249 35537861 N Viable N Y 0.257449595 67.87057938 2.35E-05 75.8 . . SLFN13 17 35435096 35448837 N . N N 1.840580356 98.2867396 8.75E-15 96.7 . . SLFN14 17 35548125 35558098 N . N N . . . . . . SLFN5 17 35243036 35273655 N . N N 0.776585991 88.69595416 1.22E-09 91 DM? . SLFNL1 1 41015597 41023237 N . N N 0.581190406 83.53302078 0.000108969 71.6 . . SLIT1 10 96998038 97185920 N Viable N Y -0.985760041 8.114834751 0.999930815 3.5 . . SLIT3 5 168661733 169301129 N . N Y -0.673190249 14.66111015 0.991788384 9.5 DM . SLITRK1 13 83877205 83882393 Y Viable N Y -0.910317479 9.399780054 0.988430446 10.3 DM Tourette syndrome, 137580 (3); ?Trichotillomania, 613229 (3) SLITRK2 X 145817832 145825842 N . N N -0.960122879 8.548937894 0.240674716 37.3 . . SLITRK3 3 165186720 165197109 N . N N -1.352906494 4.288939052 0.603043296 27.4 . . SLITRK4 X 143622790 143635777 N . N N -0.484543364 20.78485848 0.613671416 27.1 . . SLITRK5 13 87672615 87696272 N . N Y -1.379105753 4.06899346 0.812088308 21.2 . . SLITRK6 13 85792790 85799488 N . N Y -0.9692443 8.392660763 8.61E-06 78.5 DM Deafness and myopia, 221200 (3) SLK 10 103967201 104029233 N . N N -1.058334419 7.101927418 0.428398338 32 DM? . SLMAP 3 57755450 57929168 N . N N -0.931871552 9.011981247 0.999325965 5.5 DM . SLMO1 18 12407896 12432238 N . N N -0.057022786 45.34352029 1.95E-07 85.2 . . SLMO2 20 59033145 59042909 N . N N 0.527414817 81.53035828 0.241368679 37.3 . . SLN 11 107707378 107719693 N . N Y 0.302171081 70.59674712 0.393191121 32.9 . . SLPI 20 45252239 45254564 N . N Y -0.057022786 45.34352029 0.00034794 68.2 . . SLTM 15 58879045 58933653 N . N N -1.600695349 2.836140534 0.999996387 2.1 . . SLU7 5 160401641 160421711 N . N N -0.441438866 22.67176014 0.000115176 71.4 . . SLURP1 8 142740944 142742411 N . N Y 0.434507168 77.58870174 0.328314103 34.9 DM Meleda disease, 248300 (3) SLX1A 16 30193887 30197561 N . N N . . 0.625453893 26.8 . . SLX1A-SULT1A3 16 30193892 30204310 N . N N . . . . . . SLX1B 16 29454501 29458219 N . N Y . . 0.516792296 29.5 . . SLX4IP 20 10435303 10636829 N . N N 0.120481978 58.76598947 2.34E-05 75.8 . . SMAD3 15 67063763 67195195 N . N Y -0.513752923 19.67355444 0.868268313 19.1 DM Loeys-Dietz syndrome 3, 613795 (3) SMAD9 13 36844831 36920765 N . N Y -0.370083231 25.87254732 0.00069136 66 DM Pulmonary hypertension, primary, 2, 615342 (3) SMAGP 12 51244558 51270890 N . N N 0.600536585 84.12340105 0.045174611 47.6 . . SMAP1 6 70667776 70862015 N . N N -0.600918996 16.66956069 0.983689233 11.1 . . SMAP2 1 40344850 40423326 N . N N -0.497789345 20.304451 0.014285645 53.4 . Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3) SMARCA1 X 129446501 129523500 N . N N -0.421647781 23.47050993 0.999946646 3.3 . . SMARCA2 9 2015219 2193624 N . N Y -2.307077787 1.128668172 0.999998264 1.9 DM Nicolaides-Baraitser syndrome, 601358 (3) SMARCAL1 2 216412414 216483053 N . N Y -0.17837921 36.81773456 0.000314359 68.5 DM Schimke immunoosseous dysplasia, 242900 (3) SMARCD1 12 50084972 50100712 N . N N -0.568189839 17.69983215 0.9995273 5.1 . . SMARCD3 7 151238764 151277896 N . N N -0.428346952 23.18689587 0.231918432 37.6 . . SMC1A X 53374149 53422728 N . N N -1.087839851 6.685188401 0.999988494 2.6 DM . SMC1B 22 45344063 45413619 N . N Y -0.207435076 35.0697459 0.986578246 10.7 DP . SMC2 9 104094260 104141417 N . N N -0.182056178 36.58621288 0.998014292 6.9 . Smith-McCort dysplasia 2, 615222 (3) SMC4 3 160399274 160434962 N . N N -1.526339485 3.218151299 0.105530996 42.8 FP . SMC6 2 17663812 17800242 N . N N -1.070616778 6.910922035 0.45541979 31.2 . . SMCO1 3 196506877 196515366 N . N N . . 4.63E-05 74.1 . . SMCO2 12 27466810 27502185 N Viable N Y . . . . . . SMCO3 12 14804650 14814182 N . N N 0.294815417 70.1800081 0.205394525 38.6 . . SMCO4 11 93478472 93543508 N . N N 0.11459153 58.34925045 0.00205705 61.8 . . SMCP 1 152878317 152885047 N . N Y 0.442010439 77.98228859 0.04299324 47.8 . . SMCR8 17 18315310 18328055 N . N N 0.103214148 57.43473983 0.319420058 35.2 . . SMG5 1 156249224 156282825 N . N N -1.456060832 3.600162065 0.998179753 6.8 . . SMG7 1 183472216 183598246 N . N N -0.498293669 20.26972275 0.999981493 2.8 . . SMG8 17 59209400 59215247 N . N N -0.370739403 25.83781907 0.021939147 51.2 . . SMG9 19 43727992 43754990 N . N N -0.492046478 20.51282051 4.85E-11 93.4 . . SMIM1 1 3772788 3775982 N . N N . . . . FP [Blood group, Vel system], 615264 (3) SMIM10 X 134990938 134992473 N . N N . . . . . . SMIM10L1 12 11171222 11176016 N . N N . . . . . . SMIM10L2A X 135421943 135428074 N . N N . . . . . . SMIM10L2B X 135095028 135098634 N . N N . . . . . . SMIM11 21 7744962 7777853 N . N N 0.295624092 70.22631244 0.556682788 28.5 . . SMIM12 1 34712737 34859816 N . N N . . 0.396299543 32.9 . . SMIM13 6 11094033 11138733 N . N N . . . . . . SMIM14 4 39546330 39639090 N . N N 0.030143764 51.8087631 0.742727363 23.4 . . SMIM15 5 61157709 61162474 N . N N 0.37161271 74.48052324 0.228320204 37.7 . . SMIM17 19 56643145 56655766 N . N N . . . . . . SMIM18 8 30638600 30646064 N . N N . . . . . . SMIM19 8 42541155 42555193 N . N N 0.024554204 51.41517625 0.323327861 35.1 . . SMIM2 13 44143543 44161257 N . N N . . . . . . SMIM20 4 25861830 25929874 N . N N . . . . . . SMIM21 18 75409476 75427703 N . N N 0.275027119 68.98767147 0.000512614 67 . . SMIM22 16 4788397 4796491 N . N N . . . . . . SMIM23 5 171785872 171794598 N . N N . . . . . . SMIM24 19 3473986 3480542 N . N N . . . . . . SMIM3 5 150777946 150796734 N . N N 0.38757536 75.25033281 0.001492065 63 . . SMIM4 3 52534013 52579237 N . N N . . . . . . SMIM5 17 75633434 75641404 N . N N . . . . . . SMIM6 17 75646243 75647977 N . N N . . . . . . SMIM7 19 16630751 16660442 N . N N 0.077075925 55.43207733 0.417815347 32.3 . . SMIM8 6 87322583 87399749 N . N N 0.85102036 90.21820918 0.035853617 48.8 . . SMIM9 X 154823348 154834662 N . N N . . . . . . SMKR1 7 129502479 129512932 N . N N . . . . . . SMLR1 6 130827406 130837135 N . N N . . . . . . SMN2 5 70049612 70078522 N . N N . . 0.095255983 43.5 DM {Spinal muscular atrophy, type III, modifier of}, 253400 (3) SMNDC1 10 110290730 110304951 N . N N -0.066439705 44.63737917 0.275797515 36.3 . . SMOC2 6 168441151 168673445 N Viable N Y -0.48167256 20.94692366 0.012969779 53.9 DM Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3) SMOX 20 4120980 4187747 N . N N -0.875670325 10.06540487 0.837563766 20.3 . . SMPD1 11 6390431 6394998 N . N Y 0.566337528 82.94842855 4.20E-07 84 DM Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type B, 607616 (3) SMPD2 6 109440763 109443919 N . N Y -0.740609356 12.8726052 8.12E-11 93.1 . . SMPDL3A 6 122789049 122809720 N . N N 0.210518064 65.10968339 1.67E-13 95.9 . . SMPDL3B 1 27934993 27959157 N . N Y 0.35322653 73.60074087 1.39E-07 85.7 . . SMPX X 21705972 21758163 N . N Y 0.061112993 54.1992244 0.593774442 27.6 DM Deafness, X-linked 4, 300066 (3) SMR3A 4 70360761 70367158 N . N N 0.298492991 70.40574174 0.039054647 48.4 . . SMR3B 4 70370093 70390244 N . N N 0.191535973 63.89419459 0.536532375 29 . . SMS X 21940573 21994835 N . N Y -0.275568538 30.94287203 0.921460277 16.6 DM Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) SMTNL1 11 57542641 57550274 N . N Y . . 6.40E-06 79.1 . . SMTNL2 17 4583999 4608319 N . N N 0.680495985 86.43861782 0.001237124 63.9 . . SMU1 9 33041764 33076659 N . N N -0.365605444 26.09828095 0.998978044 5.9 . . SMUG1 12 54164745 54188994 N . N Y 0.0077858 50.10707878 0.001230088 63.9 DP . SMURF1 7 99027438 99144100 N Viable N Y -1.674930149 2.540950396 0.996803391 7.6 . . SMYD2 1 214281102 214337131 N . N Y 0.012569811 50.44857325 0.005368937 57.8 . . SMYD3 1 245749342 246507312 N . N N -0.441438866 22.67176014 7.80E-06 78.7 DFP . SMYD4 17 1779485 1830634 N . N N 0.471668741 79.36563061 2.01E-11 93.9 . . SMYD5 2 73214222 73227237 N . N N -0.114980914 41.14140186 0.103327058 42.9 . . SNAI3 16 88677682 88686493 N . N Y 1.532404866 97.11755513 0.008305659 55.7 . . SNAP47 1 227728539 227781231 N . N Y 0.580233574 83.49250449 0.000304823 68.6 . . SNAP91 6 83552880 83709691 N . N N -0.840067157 10.76575794 0.974350744 12.5 . . SNAPC1 14 61762357 61796428 N . N N -0.275414705 30.96023615 3.82E-07 84.1 . . SNAPC2 19 7920316 7923250 N . N N 0.229350964 66.18625919 0.10316814 42.9 . . SNAPC3 9 15422704 15465953 N . N N -0.008025521 48.81634543 5.54E-05 73.6 . . SNAPC5 15 66490135 66497813 N . N N 0.21500187 65.32384094 1.40E-05 77.2 DM? . SNCA 4 89724099 89838315 N . N Y 0.199039114 64.30514557 0.841962359 20.2 DM Parkinson disease 4, 605543 (3); Dementia, Lewy body, 127750 (3); Parkinson disease 1, 168601 (3) SNCAIP 5 122311354 122464219 N . N N -0.232813931 33.54170284 0.000362968 68.1 DM? . SNCB 5 176620084 176630556 N . N Y -0.103955104 41.8649071 0.198196528 38.8 DM Dementia, Lewy body, 127750 (3) SNCG 10 86958618 86963260 N . N Y 0.791946787 89.01429646 0.382299481 33.2 . . SND1 7 127652180 128092609 N . N N -1.050973715 7.194536088 0.999917089 3.6 . . SNED1 2 240998838 241095568 N . N N -0.987797536 8.068530416 0.98376281 11.1 . . SNN 16 11668414 11679159 N . N N -0.043930449 46.31591133 0.020249059 51.6 . . SNRK 3 43286512 43424764 N . N N -0.957252191 8.624182439 0.994142268 8.8 DM? . SNRNP25 16 53010 57669 N . N N 0.367934269 74.27215373 0.007478041 56.3 . . SNRNP35 12 123457641 123473154 N . N N -0.28674597 30.23094287 2.28E-07 85 . . SNRNP40 1 31259568 31296782 N . N N -0.560686665 17.89662557 0.825363236 20.8 . . SNRNP48 6 7590199 7611967 N . N N 0.243250221 67.10655785 7.93E-05 72.6 . . SNRNP70 19 49085419 49108605 N . N N -0.312126643 28.79550848 0.993095086 9.1 . . SNRPA 19 40750637 40765389 N . N N -0.75577088 12.46744226 0.060279449 46 . . SNRPA1 15 101281510 101295282 N . N N 0.072442927 55.09058286 0.969077644 13.1 . . SNRPB 20 2461634 2470853 N . N N -0.343096194 27.10540024 0.691451245 24.8 . Cerebrocostomandibular syndrome, 117650 (3) SNRPB2 20 16729961 16742563 N . N N -0.208998116 34.98292528 0.320265019 35.1 . . SNRPC 6 34757406 34773794 N . N N -0.066439705 44.63737917 0.727261778 23.8 . . SNRPD1 18 21612267 21633524 N . N N 0.105175156 57.60838108 0.847045313 20 . . SNRPD2 19 45687454 45692569 N . N N -0.067396649 44.56792267 0.747515256 23.2 . . SNRPD3 22 24555503 24609980 N . N N 0.000131289 49.44145396 0.877845312 18.7 . . SNRPE 1 203861603 203870550 N . N N 0.000131289 49.44145396 0.891456792 18.1 DM Hypotrichosis 11, 615059 (3) SNRPF 12 95858928 95903828 N . N N 0.112678313 58.18139723 0.734661648 23.6 . . SNRPG 2 70281362 70293771 N . N N 0.075162561 55.29316432 0.866844386 19.2 . . SNTA1 20 33407955 33443892 N . N Y 0.151450703 61.09857035 0.428235398 32 DM Long QT syndrome 12, 612955 (3) SNTB1 8 120535745 120813273 N . N N -0.504181931 20.02083695 0.618933425 27 . . SNTB2 16 69187129 69309052 N . N Y -0.520298739 19.46518493 0.036218318 48.8 . . SNTG1 8 49909789 50794118 N . N N -0.926281221 9.127742085 0.037927565 48.6 DM? . SNTG2 2 950868 1367613 N . N N 1.542779302 97.19279968 9.18E-07 82.7 DM . SNTN 3 63652668 63679020 N . N N 0.193448992 64.03889564 0.002737944 60.7 . . SNU13 22 41673930 41690504 N . N N . . . . . . SNUPN 15 75598083 75626469 N . N N 0.156083554 61.48058112 2.18E-10 92.4 . . SNURF 15 24955034 25000276 N . N N -0.052390454 45.59819413 0.780882316 22.3 DM? . SNW1 14 77717599 77761207 N . N N -0.519341466 19.49991318 0.999633196 4.9 . . SNX1 15 64094123 64146090 N . N Y -0.666533619 14.84053945 0.939839945 15.6 . . SNX10 7 26291895 26374329 N . N N -0.306538083 29.06754645 0.005857505 57.3 DM Osteopetrosis, autosomal recessive 8, 615085 (3) SNX11 17 48103357 48123074 N . N N -0.241727755 32.9281704 3.86E-05 74.6 . . SNX12 X 71056332 71073426 N . N N 0.091125502 56.52022921 0.695492432 24.8 . . SNX14 6 85505496 85594156 N . N N -0.762012753 12.35746947 6.80E-10 91.4 . Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) SNX15 11 65027408 65040572 N Viable N Y 0.641066664 85.39098223 0.000705751 65.9 . . SNX16 8 81799581 81842866 N . N N -0.143231429 39.15031545 4.22E-08 87.2 . . SNX17 2 27370496 27377533 N . N Y -0.672122822 14.71320252 0.686180301 25 . . SNX18 5 54517759 54546585 N . N N -0.982633595 8.195867338 0.146597452 40.7 . . SNX19 11 130875436 130916509 N . N N 1.428787046 96.54453898 9.83E-07 82.6 DM? . SNX2 5 122774996 122830108 N . N Y -0.563403124 17.82716907 0.997941242 7 . . SNX20 16 50666300 50681353 N . N N 0.662620317 85.99872663 4.13E-05 74.4 . . SNX21 20 45833810 45843275 N . N N 0.734932275 87.72356312 0.020814016 51.4 . . SNX24 5 122843439 123029354 N . N N -0.291531924 29.91838861 0.001392807 63.4 . . SNX25 4 185204237 185370185 N . N N -0.58656713 17.18469642 5.35E-05 73.7 . . SNX29 16 11976737 12574289 N Viable N Y -0.76541089 12.29958905 1.78E-06 81.5 . . SNX3 6 108211222 108261260 N . N N -0.217458365 34.43884934 0.466342862 30.9 DM? . SNX30 9 112750838 112881671 N . N N -0.192881585 36.00162065 0.970626803 12.9 . . SNX31 8 100572882 100663415 N . N N 0.577363401 83.35359148 1.96E-10 92.5 . . SNX32 11 65833641 65856896 N . N N -0.357795969 26.4224113 2.73E-13 95.8 . . SNX33 15 75647906 75662301 N . N N -0.859706529 10.38374718 0.006757144 56.8 . . SNX4 3 125446644 125520197 N . N N -0.701332867 13.86236036 0.011061879 54.5 . . SNX6 14 34561094 34630183 N . N N -0.484697758 20.7732824 0.965428129 13.5 . . SNX7 1 98661701 98760500 N . N N -0.237899627 33.20599641 0.028838862 49.9 . . SNX8 7 2251770 2354318 N . N N -1.005144403 7.784916363 0.165170969 39.9 DM? . SNX9 6 157700387 157945077 N . N N -0.028620813 47.39827516 0.578575161 28 . . SOAT1 1 179293714 179358680 N . N Y -0.283722377 30.43931238 1.67E-05 76.8 . . SOAT2 12 53103518 53124538 N . N Y 0.021181046 51.1605024 9.10E-18 98.1 . . SOBP 6 107489958 107660167 N . N N -0.600766325 16.68113677 . . DM Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3) SOCS2 12 93569814 93583487 N . N Y -0.066439705 44.63737917 0.098530408 43.2 . . SOCS4 14 55027230 55049488 N . N N -0.371997156 25.78572669 1.86E-06 81.4 . . SOCS5 2 46698952 46763129 N . N Y -1.141168217 6.141112462 0.410273257 32.5 . . SOCS6 18 70288901 70330200 N . N Y -0.716185569 13.49771372 0.879897418 18.6 . . SOD1 21 31659622 31668931 N . N Y -0.081445868 43.46240667 0.442188724 31.7 DM Amyotrophic lateral sclerosis 1, 105400 (3) SOD3 4 24789912 24800842 N . N Y . . 0.223646616 37.9 DFP [Superoxide dismutase, elevated extracellular] (3) SOGA1 20 36777442 36863686 N . N N . . 0.997564312 7.2 . . SOGA3 6 127438406 127519355 N . N N -1.180451652 5.799617989 . . . . SOHLH1 9 135693407 135699528 N . N Y 1.222817554 95.2480176 0.010418987 54.8 DM . SOHLH2 13 36168208 36214615 N . N Y 0.188009008 63.674249 0.429898601 32 . . SON 21 33542618 33577481 N . N N -3.370578928 0.439891185 0.99999991 1.1 . . SORBS1 10 95311771 95561414 N . N Y -0.182716909 36.55148463 2.14E-08 88.1 DP . SORBS2 4 185585444 185956652 N Viable N Y -0.704425926 13.80447994 0.088806284 43.8 . . SORBS3 8 22544986 22575788 N . N Y 1.176190834 94.80233837 2.31E-06 81 . . SORCS1 10 106573663 107164534 N . N N -0.684780454 14.39486022 0.969565842 13 DM? . SORCS2 4 7192538 7742836 N . N Y -0.508519814 19.85298374 0.002646288 60.9 . . SORCS3 10 104641101 105265235 N . N Y -1.872661033 1.991086415 0.325134264 35 . . SORD 15 45023104 45077185 N . N N 0.550071139 82.43908086 0.004347946 58.7 . ?Cataract, congenital (2) SORL1 11 121452203 121633693 N . N Y -0.659717537 15.04890895 0.017414123 52.3 DM? {Alzheimer disease, pathogenesis, association with}, 104300 (3) SOS2 14 50117120 50231558 N . N Y -0.706476008 13.7292354 0.999427841 5.3 . Noonan syndrome 9, 616559 (3) SOST 17 43753731 43758788 N . N Y -0.070115062 44.4058575 0.379603155 33.3 DM Sclerosteosis 1, 269500 (3); Van Buchem disease, 239100 (3); Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3) SOWAHA 5 132813587 132816797 N . N N . . . . . . SOWAHB 4 76894928 76898147 N . N N -0.0163338 48.1912369 0.004102368 59 . . SOWAHC 2 109614334 109618990 N . N N . . . . . . SOWAHD X 119758613 119760164 N . N N . . 0.477013933 30.6 . . SOX1 13 112067647 112070488 N . N Y . . . . . . SOX12 20 325401 330224 N . N Y . . . . . . SOX13 1 204073115 204127743 N . N Y -0.098061234 42.21218962 0.96409953 13.6 . . SOX14 3 137764284 137766338 N . N N -0.033556726 47.03941657 0.720669572 24 . . SOX15 17 7588178 7590170 N . N Y 0.245014457 67.16443827 0.361605911 33.9 . . SOX18 20 64047582 64049641 Y Viable N Y . . . . DM Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3); Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3) SOX21 13 94709622 94712399 N . N Y . . . . . . SOX30 5 157625679 157671480 N Viable N Y 0.800699266 89.17057359 0.998986334 5.9 . . SOX8 16 981808 986979 N . N Y 0.383088549 75.0824796 0.87370846 18.9 DM . SP100 2 230415942 230544090 N . N N -0.243037859 32.84713781 8.71E-07 82.8 FP . SP140 2 230203110 230313215 N . N N 0.955710407 92.10511084 2.00E-08 88.2 . . SP140L 2 230327184 230403732 N . N N 0.91612174 91.41633385 6.07E-05 73.4 . . SP5 2 170715351 170718078 N . N Y -0.271739892 31.18018174 0.432721441 31.9 . . SP6 17 47844908 47855874 N . N Y 0.242293684 67.01973722 0.022947566 51 . . SP9 2 174334946 174338492 N . N N . . 0.498147938 30 . . SPA17 11 124673798 124697518 N . N N 0.04243066 52.74063784 0.006263474 57 . . SPACA1 6 88047789 88066832 N . N Y -0.31116943 28.88232911 0.38222174 33.2 . . SPACA3 17 32970376 32997877 N . N N 0.668211287 86.16657985 0.053962912 46.5 . . SPACA4 19 48606743 48607714 N . N N 0.282530296 69.45650287 0.577152663 28.1 . . SPACA5 X 48004336 48009729 N . N N . . . . . . SPACA5B X 48130657 48132613 N . N N . . . . . . SPACA7 13 112376319 112434689 N . N N 0.302318539 70.64305146 2.10E-06 81.2 . . SPAG1 8 100157906 100259278 N . N N 0.132920659 59.63419575 2.33E-07 85 . Ciliary dyskinesia, primary, 28, 615505 (3) SPAG11A 8 7847876 7868867 N . N N . . 0.039012166 48.4 . . SPAG11B 8 7442684 7463674 N . N N 1.419694207 96.48087052 0.04723769 47.3 . . SPAG16 2 213284379 214410501 N . N Y -0.45805624 21.96561903 3.66E-20 98.7 FP . SPAG17 1 117953861 118185223 N . N N 0.704510222 86.99426984 9.35E-16 97.3 DM? . SPAG4 20 35615892 35621049 N . N N 0.064133998 54.51756671 0.110567923 42.6 . . SPAG5 17 28577565 28599279 N . N Y 0.586290354 83.71245008 7.26E-06 78.8 . . SPAG6 10 22345445 22454224 N . N Y -0.393549347 24.76703131 7.41E-06 78.8 . . SPAG7 17 4959226 4967872 N . N N -0.287703102 30.21357875 0.001147197 64.2 . . SPAG8 9 35808045 35812272 N . N N 0.234135 66.47566128 2.75E-07 84.7 . . SPAG9 17 50962174 51120865 N . N Y -0.926947722 9.110377959 0.999998938 1.7 . . SPAM1 7 123925237 123971414 N . N Y 0.00793724 50.1244429 1.24E-06 82.3 . . SPANXA1 X 141583674 141698444 N . N N . . . . . . SPANXA2 X 141589435 141590772 N . N N . . . . . . SPANXB1 X 141002591 141003706 N . N N . . . . . . SPANXC X 141241463 141242496 N . N N 1.968521216 98.54720148 0.00058968 66.5 . . SPANXD X 141697411 141698739 N . N N 1.415873107 96.4635064 0.177812636 39.4 . . SPANXN1 X 145246828 145256112 N . N N 0.198082641 64.25305319 0.51040517 29.7 . . SPANXN2 X 143711955 143721423 N . N N 0.035884366 52.28917057 2.60E-05 75.6 . . SPANXN3 X 143508735 143517475 N . N N 0.389487678 75.3313654 0.599707835 27.5 . . SPANXN4 X 143025918 143034702 N . N N . . 0.107493144 42.7 . . SPANXN5 X 52796144 52798101 N . N N 0.097672002 56.94854431 0.50096616 29.9 DM . SPARC 5 151661096 151687165 N . N Y 0.206691474 64.80870522 0.886494106 18.4 . Osteogenesis imperfecta, type XVII, 616507 (3) SPARCL1 4 87473335 87531061 N . N Y 0.484606379 79.9039185 1.07E-06 82.4 . . SPAST 2 32063611 32157637 N . N Y -0.242531784 32.88186606 0.997074713 7.5 DM Spastic paraplegia 4, autosomal dominant, 182601 (3) SPATA12 3 57060441 57075432 N . N N 0.201908627 64.49036291 0.007174635 56.5 . . SPATA13 13 23979805 24307074 N . N N -0.260105961 31.87474677 0.528844213 29.2 DM? . SPATA16 3 172889358 173141268 N . N N 0.314754515 71.37813278 1.65E-06 81.7 DM ?Spermatogenic failure 6, 102530 (3) SPATA17 1 217631324 217871696 N . N N 0.234940518 66.52775366 0.004739108 58.4 . . SPATA18 4 52051331 52097292 N . N N 0.789520593 88.97956821 1.03E-11 94.3 . . SPATA19 11 133840631 133845538 N . N N 0.210368257 65.09231927 5.98E-05 73.4 . . SPATA2 20 49903391 49915508 N Viable N Y -0.303361152 29.28749204 0.848756563 19.9 . . SPATA20 17 50543058 50555852 N . N N 0.307557959 70.8977253 1.11E-05 77.8 . . SPATA21 1 16387117 16437424 N . N N 1.96033828 98.51247323 3.58E-06 80.2 DM? . SPATA22 17 3440019 3513852 N Viable N Y 0.323063788 71.95114893 0.000465618 67.2 . . SPATA24 5 139396563 139404088 N . N N . . . . . . SPATA25 20 45886489 45887635 N . N N 0.083772833 56.01666956 0.000413851 67.6 . . SPATA2L 16 89696343 89701705 N . N N -0.186183329 36.3952075 0.046921864 47.4 . . SPATA3 2 230996121 231025055 N . N N . . . . . . SPATA31A1 9 39355669 39361959 N . N N . . . . . . SPATA31A3 9 66986304 66992583 N . N N . . . . . . SPATA31A5 9 60914374 60920650 N . N N . . . . . . SPATA31A6 9 42183659 42189882 N . N N . . . . . . SPATA31A7 9 61190003 61196280 N . N N . . 0.481345575 30.5 . . SPATA31D1 9 81988772 81995256 N . N N 1.647654209 97.70793541 2.73E-09 90.2 . . SPATA31D3 9 81943500 81995251 N . N N . . . . . . SPATA31D4 9 81928514 81934948 N . N N . . . . . . SPATA31E1 9 87882826 87888899 N . N N 2.188800024 98.84239162 6.08E-21 98.9 . . SPATA32 17 45254393 45262112 N . N N 0.339983147 72.87144759 2.95E-05 75.2 DM? . SPATA33 16 89657802 89671272 N . N N 0.810776864 89.34421485 2.73E-06 80.7 . . SPATA4 4 176184638 176195671 N . N N 0.367125811 74.23163744 0.000481542 67.1 . . SPATA45 1 212830141 212847649 N . N N . . . . . . SPATA5L1 15 45402331 45421419 N . N N -0.28835508 30.17885049 4.80E-11 93.4 . . SPATA6 1 48295372 48472208 N Viable N Y -0.194643158 35.86849569 2.03E-11 93.9 . . SPATA6L 9 4553386 4666674 N . N N 0.963862661 92.23244776 1.92E-11 94 . . SPATA7 14 88384924 88470350 N . N Y 0.550220861 82.45065694 3.14E-09 90.1 DM Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3) SPATA8 15 96783389 96785615 N . N N 0.745969788 87.98981305 0.158580482 40.2 FTV . SPATA9 5 95652181 95698711 N . N N -0.130139339 40.0821902 0.002189742 61.5 . . SPATC1 8 144012414 144047085 N . N N 1.405940542 96.41720206 3.59E-08 87.4 . . SPATC1L 21 46161148 46184476 N . N N 0.715143866 87.26630781 3.78E-06 80.1 . . SPATS1 6 44342660 44377167 N . N N 0.214194527 65.30647682 0.00019125 70 . . SPATS2 12 49366584 49527424 N . N N 0.593326484 83.93239567 0.98965126 10 . . SPATS2L 2 200305881 200482263 N . N N -0.168458721 37.48335938 0.970345372 13 . . SPC24 19 11131520 11155808 N . N N . . 0.006275544 57 . . SPC25 2 168834132 168913371 N . N N -0.041059779 46.53585692 0.05942945 46.1 . . SPCS1 3 52704955 52711146 N . N N 0.159610371 61.7121028 0.118910838 42.2 . . SPCS2 11 74949247 74979031 N . N N 0.032057299 51.99976848 0.725113281 23.9 . . SPCS3 4 176319964 176332245 N . N N 0.0545666 53.67251259 0.697040879 24.7 . . SPDL1 5 169583634 169604778 N . N N 1.01845409 92.99068125 8.72E-10 91.2 . . SPDYA 2 28782517 28850611 N . N N -0.01663693 48.16808474 0.166884224 39.9 . . SPDYC 11 65170154 65173244 N . N N -0.421801054 23.46472188 0.001855149 62.2 . . SPDYE1 7 44000889 44010122 N . N N 0.852118493 90.23557331 0.206335953 38.6 . . SPDYE16 7 76531319 76541459 N . N N . . . . . . SPDYE2 7 102551232 102562308 N . N N . . . . . . SPDYE2B 7 102650325 102661398 N . N N . . . . . . SPDYE3 7 100307702 100322196 N . N N . . 0.825434138 20.8 . . SPDYE4 17 8753106 8758559 N . N N 0.240380673 66.89818834 0.001221667 63.9 . . SPDYE5 7 75493625 75504304 N . N N . . . . . . SPDYE6 7 102347206 102356444 N . N N . . . . . . SPECC1 17 20009344 20319026 N . N N -1.128468197 6.308965677 0.10945964 42.6 . . SPECC1L 22 24270817 24417740 N . N N -0.76841557 12.24749667 0.993395147 9 DM ?Facial clefting, oblique, 1, 600251 (3); Opitz GBBB syndrome, type II, 145410 (3) SPECC1L-ADORA2A 22 24270898 24442356 N . N N . . . . . . SPEM1 17 7420360 7421632 N . N Y 0.664532951 86.07397118 0.023453063 50.8 . . SPERT 13 45702311 45714559 N . N N 0.089513257 56.41025641 0.000527781 66.9 DM? . SPESP1 15 68818221 68946811 N . N Y -0.192881585 36.00162065 1.98E-05 76.3 . . SPG11 15 44562696 44663678 N . N N -2.008173172 1.620651734 2.91E-22 99.1 DM Spastic paraplegia 11, autosomal recessive, 604360 (3); Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) SPG20 13 36301638 36370180 N Viable N Y -0.128878445 40.18058691 0.000159489 70.5 DM Troyer syndrome, 275900 (3) SPG21 15 64963021 64990310 N . N N -0.53817717 18.67222319 9.88E-05 71.9 DM Mast syndrome, 248900 (3) SPG7 16 89490917 89557768 N . N Y -0.578775191 17.39306593 1.38E-18 98.3 DM Spastic paraplegia 7, autosomal recessive, 607259 (3) SPHAR 1 229304857 229305504 N . N N 0.242145304 67.0023731 0.014463117 53.4 . . SPHK1 17 76376584 76387860 N . N Y -0.430107764 23.15216762 1.29E-05 77.4 . . SPHK2 19 48619291 48630717 N . N Y -0.16719952 37.58175609 8.66E-06 78.4 . . SPHKAP 2 227979950 228181645 N . N N -0.58205613 17.32360942 0.233358015 37.6 . . SPIB 19 50418938 50431313 N . N Y 0.763844026 88.41234011 0.89985367 17.8 . . SPICE1 3 113442718 113515187 N . N N -0.232813931 33.54170284 5.14E-08 86.9 . . SPIDR 8 47260575 47736306 N . N N -0.316304619 28.50610638 1.07E-14 96.7 . . SPIN2A X 57134530 57137625 N . N N 0.22250501 65.75794409 0.22066142 38 . . SPIN2B X 57118551 57121547 N . N N 0.15865385 61.61949413 0.620083821 26.9 . . SPIN3 X 56976370 56995537 N . N N -0.012004394 48.53851942 0.674771548 25.3 . . SPIN4 X 63347228 63351344 N . N N 0.14651721 60.7454998 0.725861947 23.9 . . SPINK13 5 148268180 148286254 N . N N 0.08457904 56.06876194 0.024356953 50.6 . . SPINK14 5 148169733 148175398 N . N N 0.326593235 72.13057823 0.016352158 52.7 . . SPINK2 4 56809860 56821742 N Viable N Y 0.143647524 60.46767379 0.717781973 24.1 . . SPINK4 9 33218365 33248567 N . N N 0.327549473 72.20003473 0.713655356 24.2 . . SPINK6 5 148202794 148215137 N . N N 0.357562369 73.8264745 2.42E-05 75.7 . . SPINK7 5 148312419 148315922 N . N N 0.41008517 76.32112056 0.076116714 44.7 DFP . SPINK8 3 48306842 48328341 N . N N 0.356606194 73.78595821 0.001121286 64.3 . . SPINK9 5 148321203 148339849 N . N N 0.493577577 80.20489668 0.326828103 35 . . SPINT3 20 45512461 45515624 N . N N . . . . . . SPINT4 20 45722351 45725830 N . N N 0.411041265 76.39636511 0.093389522 43.6 . . SPIRE1 18 12446512 12658134 N . N N -1.338185338 4.416275974 0.330091752 34.9 . . SPIRE2 16 89818179 89871319 N . N N 0.004412995 49.84082885 1.13E-10 92.9 . . SPN 16 29662979 29670876 N . N Y 0.430020338 77.42084853 0.091271392 43.7 . . SPNS2 17 4498838 4539035 N Viable N Y -0.703898724 13.81605603 0.00382444 59.2 . . SPNS3 17 4433688 4488208 N . N N 0.70139538 86.92481334 2.77E-10 92.2 . . SPO11 20 57329759 57343994 N Viable N Y 0.134531237 59.82520113 0.0003563 68.1 . . SPOCD1 1 31790422 31816051 N . N N -0.322704383 28.08936737 8.80E-06 78.4 . . SPOCK1 5 136975298 137598379 N . N Y -0.25099172 32.42461075 0.320886445 35.1 . . SPOCK2 10 72059035 72089032 N . N N 0.23207049 66.37147653 0.881279639 18.6 . . SPOCK3 4 166733384 167234796 N . N Y 0.151450703 61.09857035 0.495144484 30.1 . . SPON1 11 13962689 14267884 N . N Y . . . . . . SPON2 4 1166932 1208962 N . N Y -0.190967704 36.11159345 1.09E-06 82.4 . . SPOPL 2 138501801 138573547 N . N Y -0.147863581 38.90142965 0.045446953 47.5 . . SPP1 4 87975650 87983426 N . N Y 0.929066508 91.70573595 1.51E-06 81.9 DFP . SPP2 2 234050679 234077134 N . N N 0.190728755 63.83052613 1.27E-06 82.2 DM? . SPPL2A 15 50702266 50765808 N . N Y 0.309970893 71.06557851 0.047077934 47.4 . . SPPL2B 19 2328615 2354806 N . N N . . . . . . SPPL2C 17 45844835 45847072 N . N N 2.664510789 99.2822828 2.30E-05 75.9 DP . SPPL3 12 120762510 120904371 N . N N -0.137642372 39.56705447 0.907785634 17.5 . . SPRED1 15 38252326 38357249 N . N Y 0.071637002 55.02112635 0.868668326 19.1 DM Legius syndrome, 611431 (3) SPRED2 2 65310851 65432637 N . N Y -0.627103417 15.95184349 0.000973023 64.8 DM? . SPRED3 19 38388421 38399587 N . N N . . 0.422884638 32.2 . . SPRN 10 133420666 133424572 N . N Y . . 0.386597169 33.1 DM? . SPRR1A 1 152985231 152985500 N . N N 0.032057299 51.99976848 0.175108854 39.5 . . SPRR1B 1 153031202 153032900 N . N N 0.14651721 60.7454998 0.172609046 39.6 . . SPRR2A 1 153056113 153057537 N . N N 0.30503986 70.79354055 0.160255855 40.2 . . SPRR2B 1 153070224 153070840 N . N N 0.115548149 58.40713087 0.157442686 40.3 . . SPRR2D 1 153039725 153041931 N . N N 0.449513717 78.32957111 0.003680974 59.4 . . SPRR2E 1 153093135 153106184 N . N N 0.479526897 79.73027725 0.154587337 40.4 . . SPRR2F 1 153112114 153113515 N . N N 0.320046263 71.77750767 0.003622031 59.5 . . SPRR2G 1 153149582 153150869 N . N N 0.380072103 74.92620247 0.026608019 50.3 . . SPRR3 1 153001747 153003856 N . N N 0.318281227 71.63859466 0.006042967 57.2 DP . SPRR4 1 152970666 152972574 N . N N 0.175573187 62.89865139 0.582181679 27.9 . . SPRTN 1 231337104 231355023 N . N N -0.157128223 38.22422874 0.981335747 11.5 . Ruijs-Aalfs syndrome, 616200 (3) SPRY3 X 155767812 155782459 N . N N 0.27517563 69.0050356 0.005844747 57.4 FP . SPRYD3 12 53064316 53079420 N . N N -0.445267562 22.48075476 0.946942478 15 . . SPRYD4 12 56468567 56479707 N . N N 0.044344174 52.90849106 0.000589212 66.5 . . SPRYD7 13 49912706 49936490 N . N N -0.171482763 37.26341379 0.091157166 43.7 . . SPSB1 1 9292880 9369532 N . N N -0.61320898 16.38015859 0.709596082 24.4 . . SPSB2 12 6870935 6889358 N . N Y -0.133814513 39.83909244 0.125059417 41.8 . . SPSB3 16 1776712 1793700 N . N N -0.572667189 17.57828327 0.514185342 29.6 . . SPSB4 3 141051402 141148611 N . N N . . 0.005228639 57.9 . . SPTBN2 11 66685248 66729226 N Viable N Y -3.116076027 0.555652023 0.999977957 2.9 DM Spinocerebellar ataxia 5, 600224 (3); Spinocerebellar ataxia, autosomal recessive 14, 615386 (3) SPTBN4 19 40466241 40576464 N . N Y -0.573727624 17.53776697 . . . . SPTBN5 15 41848144 41894077 N . N N 3.922664997 99.7511142 1.09E-70 100 DM? . SPTLC3 20 13008979 13169103 N . N N -0.996683833 7.906465243 0.00275524 60.7 . . SPTSSB 3 161344792 161372880 N Viable N Y 0.107088402 57.71835388 0.005899591 57.3 . . SPTY2D1 11 18606401 18634791 N . N N 0.068112506 54.73172426 0.997915214 7 . . SPX 12 21526307 21537377 N . N N . . . . . . SPZ1 5 80319625 80321842 N . N N 1.127988443 94.28720264 0.001510593 63 FTV . SQRDL 15 45631148 45691294 N . N N -0.036123783 46.87156335 1.10E-05 77.8 . . SQSTM1 5 179806398 179838078 N . N Y 0.371103225 74.46315911 0.003538991 59.6 DM Paget disease of bone 3, 167250 (3); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3) SRA1 5 140537340 140558310 N Viable N Y 0.509685942 80.85894542 5.00E-06 79.5 FTV Campomelic dysplasia with autosomal sex reversal, 114290 (3); Acampomelic campomelic dysplasia, 114290 (3); Campomelic dysplasia, 114290 (3) SRBD1 2 45388680 45612165 N . N N 0.378115691 74.82201771 1.67E-14 96.6 . . SRCAP 16 30698209 30741409 N . N N -3.820104245 0.283614053 0.999999997 0.7 DM Floating-Harbor syndrome, 136140 (3) SRCIN1 17 38530016 38605930 N . N N -0.079076712 43.71129247 0.99550429 8.2 . . SRD5A1 5 6633343 6674386 N . N Y -0.500661427 20.13080975 1.82E-06 81.5 . . SRD5A2 2 31522480 31581067 N . N Y . . . . DM Pseudovaginal perineoscrotal hypospadias, 264600 (3) SREK1 5 66139971 66183615 N . N N -0.629974609 15.88238699 0.988373472 10.3 FP . SREK1IP1 5 64718144 64768685 N . N N 0.290033479 69.90218209 0.656016357 25.9 . . SRFBP1 5 121961961 122075570 N . N N 0.730298715 87.58465011 8.19E-05 72.5 . . SRGAP1 12 63844293 64162221 N . N N -0.739357251 12.90154541 0.987851405 10.4 DM {Thyroid cancer, nonmedullary, 2}, 188470 (3) SRGAP2B 1 144887265 145095528 N . N N . . . . . . SRGAP2C 1 121184810 121392822 N . N N . . . . . . SRGAP3 3 8980591 9363053 N . N Y -1.759124352 2.303640678 0.99999775 2 DM . SRGN 10 69088106 69104811 N . N Y 0.12592113 59.20588065 0.140766947 41.1 . . SRI 7 88205118 88226993 N . N N 0.111871637 58.12930486 9.98E-05 71.9 DM . SRL 16 4189374 4242080 N . N Y -1.004187452 7.802280489 0.001233427 63.9 . . SRM 1 11054584 11060024 N . N N -0.054152096 45.51716154 0.869848472 19.1 . . SRMS 20 63540810 63547504 N . N Y 1.858135781 98.32146785 5.13E-12 94.6 . . SRP14 15 40035739 40039188 N . N N -0.050476626 45.73710714 0.835395731 20.4 . . SRP19 5 112861188 112869788 N . N N -0.056065882 45.38982462 0.085267996 44.1 . . SRP54 14 34981957 35029567 N . N N -0.402163571 24.28662384 0.996689717 7.7 . . SRP68 17 76038775 76072653 N . N N -0.284679206 30.37564392 0.365044973 33.8 . . SRP72 4 56466915 56503680 N . N N -0.358752744 26.36453088 0.014188139 53.4 DM Bone marrow failure syndrome 1, 614675 (3) SRPK1 6 35832966 35921342 N . N N -0.128073148 40.20373908 0.000394807 67.8 . . SRPK2 7 105110704 105399308 N . N N -0.77908304 12.03912716 0.997504054 7.3 . . SRPK3 X 153776412 153785732 N . N Y 0.239724325 66.86346009 0.179643538 39.3 . . SRPR 11 126262919 126269144 N . N N -1.008820814 7.755976153 0.992611254 9.3 . . SRPRB 3 133784033 133825772 N . N N 0.00123959 49.58036696 0.010790626 54.6 . . SRPX X 38149336 38220924 N . N Y 1.43102179 96.56769115 0.008482621 55.6 DM . SRPX2 X 100644218 100671299 N . N N 1.225539855 95.26538172 0.962529393 13.7 DM ?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3) SRR 17 2303383 2325260 N . N Y -0.378697035 25.5252648 0.179017047 39.4 DFP . SRRD 22 26483877 26494658 N . N N 0.077226532 55.46680558 1.59E-06 81.8 . . SRRM1 1 24631716 24673267 N . N N -0.529262888 19.04265787 0.999999022 1.7 . . SRRM2 16 2752329 2772538 N . N N -2.166296495 1.342825722 . . . . SRRM3 7 76201900 76287288 N . N N . . 0.911827253 17.2 . . SRRM4 12 118981495 119163051 N . N Y -0.048259287 45.95126469 0.411747626 32.5 . . SRRM5 19 43596617 43614497 N . N N . . 7.19E-06 78.9 . . SRSF11 1 70205682 70253052 N . N N -0.595330347 16.85477803 0.999787767 4.3 . . SRSF12 6 89095959 89118081 N . N N 0.074356355 55.24107195 0.01623122 52.7 . . SRSF4 1 29147743 29181987 N . N Y -0.302555896 29.33379638 0.934762697 15.9 . . SRSF5 14 69726900 69772005 N . N N -0.371193959 25.80887886 0.339129155 34.6 . . SRSF6 20 43457928 43464247 N . N N -0.542808172 18.4812178 0.992976413 9.2 . . SRSF8 11 95067197 95071224 N . N N . . . . . . SRSF9 12 120461668 120469793 N . N N -0.056065882 45.38982462 0.819638672 21 . . SRXN1 20 646615 653370 N . N Y . . 0.008657879 55.5 . . SRY Y 2786855 2787699 N . N Y . . 0.416019592 32.4 DM 46XY sex reversal 1, 400044 (3); 46XX sex reversal 1, 400045 (3) SS18L1 20 62143795 62182484 N . N Y -0.742523485 12.81472478 0.812233116 21.2 DM . SS18L2 3 42581840 42595114 N . N N -0.082402837 43.40452625 0.060207196 46 . . SSBP2 5 81413021 81751797 Y Viable N Y -0.137642372 39.56705447 0.976772519 12.2 . . SSBP4 19 18418864 18434562 N . N N -0.127268446 40.25583145 0.961658882 13.8 . . SSC4D 7 76389334 76409695 N . N N . . . . . . SSC5D 19 55488404 55519098 N . N N . . 0.346968714 34.3 . . SSFA2 2 181891833 181930738 N . N Y -0.392957955 24.7786074 7.68E-05 72.7 . . SSH1 12 108778192 108857590 N . N N -0.345214226 26.97806332 0.987158741 10.6 DM . SSH2 17 29625938 29930276 N . N N -0.115335039 41.09509753 0.999753485 4.5 . . SSH3 11 67303448 67312607 N . N Y 0.057890757 53.94455056 1.32E-07 85.8 . . SSMEM1 7 130207860 130216843 N . N N 0.575302895 83.26677085 6.43E-13 95.4 . . SSNA1 9 137188647 137190370 N . N N -0.012961236 48.47485096 0.008002609 55.9 . . SSPN 12 26121991 26299290 N . N Y 0.686897579 86.57174278 0.753322775 23.1 . . SSPO 7 149776042 149833979 N . N N . . . . . . SSR2 1 156009048 156020959 N . N N 0.1249645 59.10748394 0.822108921 20.9 . . SSR4 X 153793516 153798505 N . N N -0.254973777 32.16414887 0.806792212 21.4 . ?Congenital disorder of glycosylation, type Iy, 300934 (3) SSSCA1 11 65570430 65573942 N . N N -0.03259986 47.11466111 0.00200151 61.9 . . SST 3 187668906 187670399 N Viable N Y 0.326593235 72.13057823 0.665498024 25.7 DP . SSTR1 14 38207999 38213067 N . N Y -0.320432866 28.29194883 0.829919497 20.6 . . SSTR2 17 73165012 73176633 N . N Y -0.497789345 20.304451 0.235751811 37.5 DP . SSTR3 22 37204238 37212322 N . N N 0.302618984 70.67777971 0.037224359 48.6 . . SSTR4 20 23035386 23036812 N . N Y 0.06987463 54.88800139 8.69E-05 72.3 . . SSTR5 16 1078781 1080142 N . N Y 0.74067244 87.85668808 0.062334466 45.8 DM Somatostatin analog, resistance to (3) SSU72 1 1541673 1574869 N . N N -0.187446039 36.28523471 0.606848849 27.3 . . SSUH2 3 8619400 8745040 N . N N 0.289375137 69.87324188 2.49E-08 87.9 . . SSX1 X 48255317 48267444 N . N N 0.868081708 90.53076344 6.95E-28 99.6 DM? ?Sarcoma, synovial, 300813 (3) SSX2 X 52644567 52707189 N . N N . . . . . ?Sarcoma, synovial, 300813 (3) SSX2B X 52751132 52790305 N . N N . . . . . . SSX2IP 1 84643707 84690803 N . N N -0.192729499 36.01898478 0.000829859 65.4 . . SSX3 X 48346428 48356707 N . N N 0.226330975 66.02998206 0.146323758 40.8 . . SSX4 X 48383516 48393347 N . N N . . 0.443294514 31.6 . . SSX4B X 48402078 48411910 N . N N . . 0.474319599 30.7 . . SSX5 X 48186220 48277578 N . N N 1.282705342 95.68212074 2.33E-07 84.9 . . SSX7 X 52644090 52654900 N . N N 0.910235282 91.27742085 7.68E-05 72.7 DM . ST13 22 40824535 40857022 N . N N -0.277328762 30.80974706 0.659423624 25.8 . . ST18 8 52110839 52460959 N . N Y -0.355585906 26.54974822 0.999009548 5.9 . . ST20 15 79898840 79923702 N . N N 0.281573966 69.3928344 0.113592064 42.4 . . ST20-MTHFS 15 79845195 79923754 N . N N 0.481438994 79.79973375 0.036371283 48.8 . . ST3GAL1 8 133454848 133571940 N . N Y 0.399051307 75.78862071 0.593559246 27.6 . . ST3GAL2 16 70375978 70439237 N . N Y -0.782911829 11.91179024 0.947101299 15 . . ST3GAL3 1 43705824 43931165 N . N N -0.403923475 24.17665104 0.573989459 28.1 DM Mental retardation, autosomal recessive 12, 611090 (3); Epileptic encephalopathy, early infantile, 15, 615006 (3) ST3GAL4 11 126355640 126440344 N . N Y 0.175722654 62.91601551 0.439048571 31.7 . . ST3GAL5 2 85839144 85889014 N . N Y 0.018159209 50.92319268 0.02785491 50.1 DM . ST3GAL6 3 98732236 98821201 N . N Y -0.005306604 49.07680732 0.001061672 64.5 DM? . ST5 11 8693351 8910951 N . N N -0.080688941 43.52028709 0.999989779 2.5 DM . ST6GAL1 3 186930485 187078553 N . N Y -0.086882719 43.06881982 0.814435678 21.1 . . ST6GAL2 2 106801600 106887108 N . N N 0.601786408 84.15234126 0.014936438 53.2 . . ST6GALNAC1 17 76624761 76643838 N . N N 0.192944613 64.01574347 2.24E-11 93.8 . . ST6GALNAC2 17 76563710 76586956 N . N Y 0.082010267 5.59E+01 4.43E-08 87.1 . . ST6GALNAC3 1 76074719 76634601 N . N N 0.002196401 49.64982346 0.178471681 39.4 . . ST6GALNAC4 9 127907886 127917038 N . N N -0.175961714 36.99716386 0.005077205 58 . . ST6GALNAC5 1 76867441 77065711 N . N N -0.314843927 28.5639868 0.852521023 19.8 . . ST6GALNAC6 9 127885321 127905408 N . N N 0.179549296 63.17068936 0.00205356 61.8 . . ST7 7 116953238 117230103 N . N N -0.327935902 27.84048157 0.998051872 6.9 . . ST7L 1 112523518 112620825 N . N N 0.778189146 88.75962262 1.94E-06 81.4 . . ST8SIA1 12 22063773 22437041 N . N Y -0.156323524 38.27632112 0.211574644 38.4 . . ST8SIA2 15 92393828 92468728 N . N Y 0.01161301 50.38490479 0.512756894 29.6 DM? . ST8SIA3 18 57350813 57371731 N . N N -0.203255573 35.26075129 0.963677659 13.6 . . ST8SIA4 5 100806935 100903266 N . N Y -0.227678773 33.88319731 0.675929296 25.3 . . ST8SIA5 18 46667821 46759257 N . N N -0.411426546 23.88724894 0.01839285 52.1 . . ST8SIA6 10 17318383 17454330 N . N N -0.084012126 43.26561324 2.71E-08 87.8 . . STAB1 3 52495338 52524495 N . N Y -0.824439798 11.06673612 2.80E-25 99.4 . . STAB2 12 103587273 103766727 N . N Y 1.457123521 96.74712045 4.18E-28 99.6 . . STAC 3 36380344 36548007 N . N N 0.112978986 58.22191353 0.010710269 54.7 . . STAC2 17 39210536 39225872 N . N N -0.492046478 20.51282051 1.66E-05 76.8 . . STAG2 X 123960212 124422664 N . N N -1.053037628 7.177171963 0.999999813 1.2 . . STAG3 7 100177563 100221488 N Viable N Y -1.205419848 5.510215894 1.10E-06 82.4 . ?Premature ovarian failure 8, 615723 (3) STAG3L5P-PVRIG2P-PILRB 7 100336104 100367831 N . N N . . . . . . STAM 10 17644125 17715914 N . N Y -0.784672448 11.84812178 0.902578081 17.7 . . STAM2 2 152116801 152175992 N . N Y -0.468580168 21.49678764 0.034504986 49 . . STAMBPL1 10 88879734 88975153 N . N N -0.007068709 48.91474214 1.93E-05 76.3 . . STAP1 4 67558728 67607337 N . N N -0.421801054 23.46472188 0.00012955 71.1 . . STAP2 19 4324043 4342786 N . N Y 0.256492914 67.83006309 1.63E-13 95.9 . . STARD10 11 72754729 72794168 N Viable N Y 0.085686282 56.13821844 0.051037146 46.9 . . STARD13 13 33103135 33350630 N . N Y -0.364712924 26.1330092 1.85E-07 85.3 . . STARD3 17 39637065 39663484 N . N Y -0.109239873 41.51762459 0.149477765 40.6 . . STARD3NL 7 38178222 38230671 N . N N -0.434090717 23.00746657 0.005545828 57.7 . . STARD4 5 111496033 111512590 N . N Y -0.138599374 39.52075013 2.96E-07 84.6 . . STARD5 15 81309053 81324183 N . N Y 0.409275399 76.30375644 0.061597118 45.8 . . STARD6 18 54324358 54357964 N . N N 0.529327004 81.64033108 0.026335162 50.3 DM? . STARD7 2 96184859 96208825 N . N N -0.142274465 39.26028824 0.927709616 16.2 . . STARD8 X 68647666 68725842 N Viable N Y 2.487045997 99.18388609 0.035830869 48.9 . . STARD9 15 42575659 42720981 N . N N . . . . . . STAT2 12 56341597 56360155 N . N Y -0.983440383 8.166927129 0.041094737 48.2 DM . STAT4 2 191029576 191151596 N . N Y -0.006111899 49.02471494 0.988867843 10.2 DP . STAT5A 17 42287547 42311943 N . N Y -0.76775206 12.25907276 0.999866029 4 . . STAT5B 17 42199168 42276707 N Viable N Y -0.976087079 8.300052092 0.99995316 3.2 DM Leukemia, acute promyelocytic, somatic, 102578 (3); Growth hormone insensitivity with immunodeficiency, 245590 (3) STAT6 12 57095408 57132139 N . N Y -0.437459904 22.87434161 0.100774662 43.1 DFP . STATH 4 69995930 70002570 N . N N 0.395078624 75.58603924 0.002082806 61.7 . . STAU1 20 49113339 49188367 N . N N -0.992051392 7.993285871 0.996415825 7.8 . . STAU2 8 73420369 73747708 N . N N -0.866406436 10.2621983 0.95043919 14.7 . . STC1 8 23841915 23854807 N . N Y 0.004915377 49.86976906 0.47349905 30.7 . . STC2 5 173314713 173329503 N . N Y 0.047214459 53.18052903 0.453518118 31.3 . . STEAP1 7 90154375 90164829 N . N N 0.397138302 75.69601204 0.434511094 31.8 . . STEAP1B 7 22419444 22632925 N . N N 1.27520115 95.58372403 4.60E-05 74.1 . . STEAP2 7 90167590 90238137 N . N N 0.082967032 55.94721306 0.002449747 61.2 . . STEAP3 2 119223831 119265652 N . N Y 1.2323896 95.32326214 3.94E-07 84.1 DM? ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3) STEAP4 7 88270892 88306891 N . N Y -0.228482701 33.83110494 1.50E-05 77 DP . STH 17 45999250 45999694 N . N N 0.586485615 83.7298142 0.004444666 58.6 DP . STIM2 4 26857678 27025381 N . N Y -1.418818063 3.820107658 . . . . STK10 5 172042073 172188386 N . N Y -0.499104621 20.21763038 1.50E-07 85.6 DP . STK11IP 2 219597860 219616451 N . N N 0.192294693 63.94628697 . . . . STK16 2 219245455 219250337 N Viable N Y 0.099735608 57.19164207 0.000478667 67.1 . . STK17A 7 43582758 43626786 N . N N 0.056630995 53.83457776 0.176185205 39.5 . . STK17B 2 196133566 196176503 N . N Y -0.219218665 34.36360479 0.089825746 43.8 . . STK19 6 31971091 31982821 N . N N -0.326978896 27.91572611 0.004617081 58.5 FTV . STK24 13 98445185 98577940 N . N N -0.662859235 14.96208833 0.797998297 21.8 . . STK25 2 241492674 241509730 N . N Y -0.796003991 11.6571164 0.04526709 47.5 . . STK26 X 132023265 132075943 N . N N . . . . . . STK3 8 98401403 98942827 N . N Y -0.449899067 22.28396134 5.74E-09 89.5 . . STK31 7 23710167 23832513 N Viable N Y 1.180983492 94.8486427 0.233315307 37.6 . . STK32A 5 147234963 147387852 N . N Y 0.00602363 49.96237773 5.72E-05 73.5 FTV . STK32B 4 5051442 5500998 N . N N -0.873756656 10.10592117 0.00432349 58.8 . . STK32C 10 132207492 132331847 N . N N -0.069963016 44.41743358 0.309709769 35.5 . . STK33 11 8391868 8594289 N . N N -0.067092495 44.59686288 0.000137426 70.9 FTV . STK35 20 2101611 2177038 N . N N -0.38061162 25.41529201 0.918199526 16.8 . . STK38 6 36493892 36547470 N . N N -0.163826529 37.7901256 0.853295086 19.8 . . STK38L 12 27243968 27325959 N . N Y -0.418127104 23.56890664 0.965893632 13.4 . . STK39 2 167954020 168248141 N . N Y -0.444310324 22.50969497 0.999462431 5.2 DFP . STK4 20 44966474 45079959 N . N Y -0.129986883 40.1111304 0.118311922 42.2 DM T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3) STKLD1 9 133376367 133406096 N . N N . . . . . . STMN1 1 25884181 25906991 N . N Y -0.022378042 47.78028593 0.648591504 26.1 DP . STMN2 8 79610814 79666175 N . N N -0.187446039 36.28523471 0.932287578 16 . . STMN3 20 63639705 63657682 N . N N -0.170525669 37.3618105 0.489817097 30.3 . . STMN4 8 27235323 27258420 N . N N -0.252102165 32.32621404 0.146519525 40.8 . . STMND1 6 17102258 17131372 N . N N . . . . . . STOM 9 121338988 121370304 N . N N 0.014332026 50.57012213 0.000669923 66.1 . . STOML1 15 73978923 73994622 N . N N -0.245402639 32.7487411 5.53E-05 73.6 . . STOML2 9 35099776 35103195 N . N N -0.141317516 39.35289691 0.529200678 29.2 . . STOML3 13 38965925 38991066 N . N Y 0.186095639 63.59900446 1.97E-08 88.2 . . STON1 2 48529383 48598513 N . N N 0.45857736 78.74631012 4.45E-08 87.1 . . STON1-GTF2A1L 2 48529925 48776517 N . N N -0.17138833 37.26920183 1.65E-14 96.6 . . STON2 14 81260656 81436465 N . N Y 0.133073302 59.63998379 0.568326468 28.3 DP . STOX1 10 68827541 68895432 N . N N 0.16771744 62.36615153 2.34E-07 84.9 DM Preeclampsia/eclampsia 4, 609404 (3) STOX2 4 183853431 184023526 N . N N -0.124094735 40.49314117 0.963216442 13.7 . . STPG1 1 24356999 24416934 N . N N 0.79304674 89.03744863 0.000106434 71.7 . . STPG2 4 97184093 98143240 N . N N 0.746262113 88.00717717 1.01E-12 95.2 . . STRA13 17 82018702 82024107 N . N N . . 0.591966927 27.7 . . STRA8 7 135231979 135258492 N . N Y 0.104368575 57.54471262 0.002684914 60.8 . . STRADA 17 63702832 63741970 N . N N 0.044495337 52.92585518 0.002015391 61.9 DM Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3) STRADB 2 201387858 201480846 N . N N -0.021269443 47.84974243 0.669632058 25.5 . . STRC 15 43599398 43618800 N . N Y . . 0.005321845 57.8 DM Deafness, autosomal recessive 16, 603720 (3) STRIP1 1 110031577 110074641 N . N N -1.18332098 5.759101696 0.130901316 41.5 . . STRIP2 7 129434433 129488399 N . N N -1.200095311 5.585460439 7.35E-10 91.3 . . STRN 2 36843640 36966472 N . N N -1.096952708 6.615731898 0.969336393 13.1 DM? . STRN4 19 46719507 46746994 N . N N -0.953425857 8.682062858 0.999575132 5 . . STS X 7219456 7354810 N . N N 0.916928187 91.44527406 0.981414316 11.5 DM Ichthyosis, X-linked, 308100 (3) STT3A 11 125591712 125625215 N . N N -0.696546643 14.05336575 0.978952343 12 . ?Congenital disorder of glycosylation, type Iw, 615596 (3) STT3B 3 31532638 31637622 N . N N -0.664619572 14.89263182 0.980028091 11.7 . ?Congenital disorder of glycosylation, type Ix, 615597 (3) STX10 19 13144058 13150383 N . N N 0.139164133 60.1377554 3.57E-10 92 . . STX11 6 144150526 144188370 N . N Y 0.104519243 57.57365283 0.020026056 51.7 DM Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) STX12 1 27773183 27824452 N . N N -0.056065882 45.38982462 0.896720266 17.9 . . STX16 20 58651253 58679526 N Viable N Y -0.132857585 39.9027609 0.235503145 37.5 DM? Pseudohypoparathyroidism, type IB, 603233 (3) STX16-NPEPL1 20 58651434 58715410 N . N N . . . . . . STX17 9 99906633 99970341 N . N N 0.304231467 70.75881229 0.08496798 44.1 . . STX18 4 4415742 4542346 N . N N 0.262082672 68.1773456 1.17E-06 82.3 . . STX19 3 94014369 94028610 N Viable N Y -0.013766433 48.44591075 1.15E-05 77.7 . . STX2 12 130789600 130839266 N . N Y 0.677627004 86.34600915 0.000386516 67.9 . . STX5 11 62806897 62832088 N . N N 0.251709849 67.54644904 0.362948406 33.8 . . STX6 1 180972712 181023121 N . N N 0.107238638 57.76465822 0.019849117 51.8 . . STX7 6 132445867 132513198 N . N N -0.32617555 27.96781849 0.004263116 58.8 . . STX8 17 9250471 9576591 N . N N 0.30327499 70.71250796 0.000144083 70.8 . . STXBP4 17 54968727 55173632 N . N N -0.120570168 40.6899346 1.42E-14 96.6 FTV . STXBP5L 3 120908072 121424761 N Viable N Y -1.538613517 3.154482838 0.999948371 3.3 DM? . STXBP6 14 24809656 25050297 N . N N -0.359059685 26.33559067 0.097897674 43.3 . . STYK1 12 10618939 10674318 N . N N 0.318430612 71.66753487 1.54E-05 77 . . STYX 14 52730180 52774998 N . N Y 0.04897698 53.33680616 0.972068618 12.8 . . STYXL1 7 75996338 76048004 N . N N 0.070680254 54.93430572 0.009746543 55 . . SUB1 5 32531633 32604079 N . N N -0.059893552 45.10042253 0.800760314 21.6 . . SUCLG1 2 84423523 84460045 N . N N 0.146667159 60.78022805 0.059768646 46 DM Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) SUCLG2 3 67360460 67654614 N . N N 0.37190874 74.50946345 3.28E-05 75 . . SUCNR1 3 151873643 151884619 N . N Y 0.253623009 67.679574 6.25E-08 86.7 . . SUGCT 7 40134977 40860763 N . N N 0.431933505 77.49030503 . . . . SUGP1 19 19276018 19320844 N . N N -0.772385473 12.13173583 0.99963556 4.9 . . SUGP2 19 18990888 19034023 N . N N -0.306741671 29.03860624 0.999366871 5.4 . . SUGT1 13 52652709 52700909 N . N N -0.013766433 48.44591075 0.977752129 12.1 . . SULF1 8 69466624 69660915 N . N Y -0.493659292 20.46072814 0.879274683 18.7 DM . SULT1A1 16 28605196 28623625 N . N Y 1.104669401 93.9920125 2.24E-09 90.4 DFP . SULT1A2 16 28591943 28597109 N . N N 1.046402992 93.32059964 1.84E-08 88.3 . . SULT1A3 16 30199228 30204310 N . N N . . 0.372332179 33.6 FP . SULT1A4 16 29459889 29464976 N . N N . . 0.392852564 32.9 . . SULT1B1 4 69721162 69787961 N . N N 0.253623009 67.679574 6.24E-05 73.3 . . SULT1C2 2 108288639 108309915 N . N N 0.413101046 76.51212595 1.42E-05 77.2 FP . SULT1C3 2 108247195 108265351 N Viable N Y 1.132624181 94.35665914 3.00E-11 93.7 DM? . SULT1C4 2 108377911 108388057 N . N N 0.35770974 73.83805059 0.000445387 67.4 . . SULT1E1 4 69810780 69860152 N . N Y 0.068766772 54.77802859 7.40E-05 72.8 DP . SULT2A1 19 47870466 47886397 N . N N -0.051281473 45.6908028 1.39E-07 85.7 FP . SULT2B1 19 48552075 48599425 N . N Y 0.512555096 80.99207038 0.827919002 20.7 FP . SULT4A1 22 43824509 43862503 N . N N -0.352513948 26.63078081 0.968128305 13.2 FP . SULT6B1 2 37167820 37196598 N . N N 0.670123656 86.20709614 3.48E-11 93.6 . . SUMF2 7 56064002 56080670 N . N N 1.485465127 96.8918215 5.53E-05 73.6 . . SUMO2 17 75165586 75182983 N . N N 0.18116337 63.25172194 0.850515884 19.9 . . SUMO3 21 44805617 44818779 N . N N 0.167113525 62.29669503 0.312496155 35.4 . . SUMO4 6 149400227 149401292 N . N N 0.57802637 83.37095561 0.217538235 38.1 DP {Diabetes mellitus, insulin-dependent, 5}, 600320 (3) SUN1 7 816615 896435 N . N Y 0.538397203 81.97603751 0.835840781 20.4 . . SUN2 22 38734725 38794143 N . N Y 0.000737247 49.49354633 2.41E-07 84.9 DP . SUN3 7 47987148 48029119 N . N N 1.073549255 93.67945824 3.80E-05 74.6 . . SUN5 20 32983773 33004433 N . N N 0.460032897 78.82155467 6.53E-11 93.2 . . SUOX 12 55997180 56006641 N . N N 0.042733143 52.78694218 0.002084769 61.7 DM Sulfite oxidase deficiency, 272300 (3) SUPT16H 14 21351472 21384266 N . N N -1.179644424 5.816982115 0.999999606 1.4 DM? . SUPT5H 19 39436156 39476670 N . N N -2.571023176 0.908722579 0.999999735 1.3 DM . SUPT6H 17 28662091 28702684 N . N N -2.279799704 1.174972507 1 0.4 . . SURF2 9 133356552 133361169 N . N N 0.508729649 80.80685304 3.07E-07 84.5 . . SURF4 9 133361449 133376166 N . N N -0.282114394 30.53770909 0.686424183 25 . . SURF6 9 133328774 133336398 N . N N 0.018310624 50.92898073 8.12E-05 72.5 . . SUSD1 9 112040785 112175408 N . N N -0.154106795 38.46153846 8.56E-09 89.1 . . SUSD2 22 24181259 24189110 N . N N 0.844279189 90.0966603 1.33E-10 92.7 . . SUSD3 9 93058688 93085138 N . N N 0.902731639 91.12693176 0.003195143 60.1 . . SUSD4 1 223220819 223364202 N . N N -0.124245827 40.48735313 0.004571754 58.6 . . SUSD5 3 33150042 33219215 N . N N 0.215453614 65.36435724 4.31E-09 89.7 . . SUSD6 14 69611596 69715142 N . N Y . . . . . . SUV39H1 X 48695554 48709012 N . N Y 0.201908627 64.49036291 0.936945044 15.8 . . SUV39H2 10 14878820 14904315 N . N Y -0.289617454 30.09202987 0.910307361 17.3 . . SUV420H2 19 55339853 55348120 N . N Y -0.134771456 39.75805985 0.690731173 24.9 . . SV2B 15 91099950 91301309 N . N Y -0.091363535 42.7215373 0.534784655 29 DM? . SV2C 5 76083172 76353939 N . N Y -0.14469041 39.08085895 6.36E-05 73.2 . . SVBP 1 42807052 42817252 N . N N . . . . . . SVIL 10 29457338 29736781 N . N N -0.480301003 20.96428778 0.999399704 5.4 DM? . SVIP 11 22813799 22830299 N . N N 0.122094661 58.87017422 0.011431624 54.3 . . SVOP 12 108907741 109021240 N . N Y . . . . . . SVOPL 7 138594285 138701352 N . N N 1.565292974 97.29119639 0.001133272 64.2 . . SWAP70 11 9664077 9752991 N . N Y -0.691914915 14.19227875 0.348844347 34.2 . . SWI5 9 128275379 128288990 N . N N . . 0.026359331 50.3 . . SWSAP1 19 11374685 11376951 N . N N -0.068201255 44.52161834 0.00013467 71 . . SWT1 1 185157080 185291765 N . N N 0.283937688 69.53753545 0.117421725 42.3 . . SYAP1 X 16719632 16765336 N . N N 0.1249645 59.10748394 0.502110068 29.9 . . SYBU 8 109573978 109691791 N . N N -0.293944711 29.77368756 0.005953429 57.3 . . SYCE1 10 133553901 133569835 N . N Y 1.05567373 93.44214852 0.000763635 65.6 . . SYCE1L 16 77199397 77213215 N . N N . . 0.072137507 44.9 . . SYCE2 19 12898786 12919276 N . N N 0.26384649 68.31047057 0.41925559 32.3 . . SYCE3 22 50551112 50562905 N . N Y . . . . . . SYCN 19 39202831 39204266 N . N Y 0.382940675 75.05932743 0.005726526 57.5 . . SYCP1 1 114854803 114995370 N . N Y -0.839916338 10.77154599 0.949997702 14.8 . . SYCP2 20 59863563 59933655 N . N Y 1.096867557 93.91097992 0.999993567 2.3 . . SYCP2L 6 10886831 10979320 N . N N -0.001176377 49.32569312 4.34E-11 93.5 . . SYCP3 12 101728648 101739472 N Viable N Y -0.275568538 30.94287203 5.53E-05 73.7 DM Spermatogenic failure 4, 270960 (3); {Pregnancy loss, susceptibility to} (3) SYDE1 19 15107403 15114988 N . N Y . . 0.946542807 15.1 . . SYDE2 1 85156873 85201046 N . N N 0.436067983 77.69867454 3.20E-12 94.8 . . SYN1 X 47571898 47619853 N . N Y . . 0.879529753 18.6 DM Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) SYN2 3 12004402 12191400 N . N Y . . . . . {Schizophrenia, susceptibility to}, 181500 (3) SYN3 22 32512552 33058372 N Viable N Y 0.035230174 52.24286624 0.577812324 28 DP . SYNC 1 32680360 32703596 N . N Y . . 0.041685306 48.1 . . SYNCRIP 6 85607785 85643792 N . N N -0.964909164 8.462117266 0.999378591 5.4 DM? . SYNDIG1 20 24469199 24666616 N . N N 0.191685376 63.90577068 0.433641203 31.9 . . SYNDIG1L 14 74405893 74426102 N Viable N Y 0.379262743 74.89726226 0.003664182 59.4 . . SYNE2 14 63852983 64226433 N . N Y 1.546377523 97.22173989 1.85E-11 94 DM Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3) SYNE3 14 95407266 95475836 N Viable N Y 0.864080292 90.42657869 2.95E-15 97 . . SYNE4 19 36003307 36008793 N . N Y 1.605538946 97.52271806 5.96E-11 93.2 DM Deafness, autosomal recessive 76, 615540 (3) SYNGR1 22 39349925 39385588 N . N Y -0.359862201 26.32401459 0.581490268 27.9 DM . SYNGR2 17 78168558 78173527 N . N N 0.083772833 56.01666956 0.000588832 66.5 . . SYNGR3 16 1989660 1994275 N . N N . . 0.292054619 35.9 . . SYNGR4 19 48364395 48376376 N . N N 0.434654036 77.61764195 0.001215749 64 . . SYNJ2 6 157981887 158099176 N . N Y -1.165752222 5.944319037 3.52E-05 74.8 . . SYNJ2BP 14 70366496 70417061 N . N N 0.23846774 66.7534873 0.503944509 29.8 . . SYNJ2BP-COX16 14 70326064 70417074 N . N N . . . . . . SYNM 15 99098217 99135593 N Viable N Y . . 2.33E-12 94.9 DM . SYNPO 5 150601080 150659220 N . N Y 0.044798475 52.94900735 0.980249085 11.7 DM . SYNPO2L 10 73644881 73663803 N . N N -0.624083495 16.03866412 0.026739766 50.2 . . SYNPR 3 63228315 63616921 N . N N -0.219218665 34.36360479 0.171706356 39.7 . . SYNRG 17 37514797 37609496 N . N N -0.533754312 18.84586444 0.972748212 12.7 . . SYP X 49187804 49200259 N . N Y 0.080902701 55.81408809 0.611984997 27.1 DM? Mental retardation, X-linked 96, 300802 (3) SYPL1 7 106090503 106112576 N Viable N Y 0.172852824 62.72501013 0.28913231 36 . . SYPL2 1 109466628 109482137 N . N Y 0.168219607 62.41824391 0.016771099 52.6 . . SYS1 20 45361937 45376798 N . N N -0.148973548 38.82039706 0.474140969 30.7 . . SYS1-DBNDD2 20 45363200 45410610 N . N N . . . . . . SYT10 12 33374238 33439819 N . N N 0.109303094 57.94987556 0.123246845 41.9 . . SYT11 1 155859509 155885199 N . N N -0.268868697 31.33645888 0.801740135 21.6 FP . SYT12 11 67006778 67050863 N . N N 0.452680154 78.44533194 1.03E-05 78 . . SYT13 11 45240301 45286319 N . N N -0.52956212 19.03686983 0.220165779 38 . . SYT14 1 209938174 210171315 N . N N -0.001479352 49.31411703 0.966548707 13.4 DM Spinocerebellar ataxia, autosomal recessive 11, 614229 (3) SYT15 10 46578217 46594173 N . N N 2.391379481 99.06812525 3.40E-18 98.2 . . SYT16 14 61995823 62112550 N . N N -0.035015539 46.93523181 0.001246518 63.8 . . SYT17 16 19167971 19268334 N Viable N Y -0.618643257 16.21809342 0.02363635 50.8 . . SYT3 19 50621307 50668394 N . N N -0.967626441 8.421600972 0.225605579 37.8 . . SYT4 18 43267878 43277650 N . N Y -0.176918638 36.94507148 0.127604754 41.7 . . SYT6 1 114089291 114153919 N . N N 0.032359762 52.04607281 0.032845524 49.3 . . SYT7 11 61515313 61581148 N . N Y -0.662859235 14.96208833 0.904578639 17.6 . . SYT8 11 1828307 1837521 N . N N 1.347666669 96.08728367 7.59E-13 95.4 . . SYT9 11 7238778 7469042 N . N N -0.273500756 31.08178503 0.331363732 34.8 . . SYTL1 1 27342020 27353937 N . N Y 0.636432699 85.26364531 1.08E-07 86 . . SYTL2 11 85694224 85811159 N . N Y 0.458436484 78.74052208 2.12E-19 98.5 . . SYTL3 6 158650014 158764876 N . N N 0.601938918 84.16391735 2.14E-17 98 FTV . SYTL4 X 100674491 100732123 N . N Y 0.370952088 74.45158303 0.024606552 50.6 FTV . SYTL5 X 38006582 38128819 N . N N 0.533300984 81.79660821 0.064488655 45.6 FTV . SZRD1 1 16352575 16398145 N . N N 0.100541925 57.24952249 0.719865991 24.1 . . TAAR1 6 132644984 132646003 N . N Y 0.618556794 84.73114545 0.000283698 68.8 . . TAAR2 6 132617022 132624275 N Viable N Y 0.628929435 85.03212363 3.41E-06 80.3 DM? . TAAR5 6 132588673 132589686 N . N Y 0.515424669 81.09625514 3.46E-07 84.3 . . TAAR6 6 132570322 132571359 N Viable N Y 0.577363401 83.35359148 0.153131232 40.4 . . TAAR8 6 132552693 132553721 N . N N 0.33806995 72.74989871 0.000303108 68.6 . . TAAR9 6 132538290 132539336 N . N N . . . . FP . TAB3 X 30827442 30975084 N . N Y -0.145949748 39.0056144 0.921511504 16.6 . . TAC1 7 97731908 97740472 N . N Y -0.112415198 41.29189095 0.877314615 18.7 . . TAC3 12 57010000 57028883 N . N Y 0.214045409 65.29490074 0.040450005 48.3 DM Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) TAC4 17 49838309 49848017 N . N Y 0.207498734 64.86658563 0.041958906 48 . . TACC1 8 38728186 38853028 N . N N -0.388615014 25.01012907 0.015120874 53.1 . . TACC2 10 121989174 122254545 N . N Y 1.57125228 97.32592464 3.52E-19 98.5 . . TACO1 17 63600872 63608365 N . N N -0.121679336 40.63205418 0.357585528 34 DM Mitochondrial complex IV deficiency, 220110 (3) TACR1 2 75046463 75199700 N . N Y -0.463948146 21.72830931 0.000227889 69.4 . . TACR2 10 69403903 69416867 N . N N 0.713378778 87.2373676 9.88E-07 82.5 . . TACR3 4 103586031 103719816 N . N Y -0.14307911 39.17346762 1.90E-06 81.4 DM Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3) TACSTD2 1 58575423 58577773 N . N N 0.047214459 53.18052903 0.205248032 38.6 DM Corneal dystrophy, gelatinous drop-like, 204870 (3) TADA1 1 166856510 166876327 N . N N -0.233267662 33.50118655 0.358858663 33.9 . . TADA2A 17 37406874 37479730 N . N N -0.530519144 18.97898941 9.66E-05 72 . . TADA2B 4 7041899 7057952 N . N N -0.633803705 15.81871853 0.345059566 34.4 . . TAF1 X 71366239 71532374 N . N N -1.001170879 7.848584824 0.999999756 1.3 DP Dystonia-Parkinsonism, X-linked, 314250 (3) TAF11 6 34877778 34888089 N . N N 0.148430386 60.90756497 0.875431937 18.8 . . TAF12 1 28589323 28643085 N . N N 0.275027119 68.98767147 0.892665248 18.1 . . TAF13 1 109062486 109076002 N . N N -0.028924269 47.36354691 0.019850195 51.7 . . TAF15 17 35713791 35864615 N . N N -0.120418693 40.70151068 0.354285878 34.1 DM Chondrosarcoma, extraskeletal myxoid, 612237 (1) TAF1A 1 222557902 222589933 N . N N 0.551027573 82.47959715 6.60E-07 83.2 . . TAF1B 2 9843354 9934416 N . N N 0.314754515 71.37813278 4.29E-06 79.8 . . TAF1C 16 84177847 84187070 N . N N 1.572511977 97.33171268 3.23E-11 93.6 DP . TAF1D 11 93729948 93784391 N . N N 0.288268772 69.80378538 0.005911467 57.3 . . TAF1L 9 32629454 32635669 N . N N 0.394569211 75.55709903 0.119270692 42.1 FTV . TAF2 8 119730775 119832863 N . N N -1.020815111 7.617063148 0.56608706 28.3 DM Mental retardation, autosomal recessive 40, 615599 (3) TAF3 10 7818504 8016627 N . N N -0.950557033 8.699426984 0.99512518 8.4 . . TAF4B 18 26225936 26391685 N . N Y -0.151236787 38.62360363 0.879312142 18.6 . ?Spermatogenic failure 13, 615841 (3) TAF5 10 103367967 103389065 N . N N -0.547439633 18.30757655 0.999555181 5 . . TAF5L 1 229593111 229626047 N . N N -0.875670325 10.06540487 0.985849777 10.8 . . TAF6L 11 62771303 62787342 N . N N -0.571710334 17.59564739 0.819819294 21 . . TAF7L X 101268253 101293057 N . N Y 0.27517563 69.0050356 0.843722649 20.1 DP . TAF9 5 69364743 69370013 N . N N -0.280200056 30.62452972 5.74E-05 73.5 . . TAF9B X 78129748 78139706 N . N Y 0.111871637 58.12930486 0.000410983 67.7 . . TAGAP 6 159034468 159045152 N . N N -0.177572541 36.88719106 0.927102798 16.3 DP . TAGLN 11 117199321 117204782 N . N Y 0.423325465 77.03304972 0.24153768 37.3 . . TAGLN2 1 159918107 159925732 N . N N 0.074356355 55.24107195 0.003290733 59.9 . . TAGLN3 3 111998664 112013887 N . N N -0.337507753 27.3890143 0.685406598 25 . . TALDO1 11 747329 765024 N . N Y -0.135576128 39.70596747 0.000175588 70.2 DM Transaldolase deficiency, 606003 (3) TAMM41 3 11790442 11846919 N . N N -0.299837855 29.4611333 0.0001846 70.1 . . TANC1 2 158968634 159232659 N . N N -1.375800679 4.097933669 0.140685896 41.1 . . TANGO2 22 20017014 20065926 N . N N 0.269585727 68.68669329 4.22E-06 79.9 . . TANK 2 161136908 161236221 N . N Y 0.823060612 89.60467674 0.943798418 15.3 . . TAOK1 17 29390464 29551904 N . N N -1.375706164 4.103721711 0.999999739 1.3 . . TAOK2 16 29973641 29992261 N . N N -1.886498038 1.938994038 0.998764492 6.2 . . TAOK3 12 118149801 118372945 N . N N -0.530367513 18.99635353 0.999977598 2.9 . . TAP1 6 32845209 32853978 N . N Y 1.629158242 97.6384789 0.286650163 36 DM Bare lymphocyte syndrome, type I, 604571 (3) TAP2 6 32821833 32838780 N . N N 0.712573182 87.22000347 0.001713418 62.5 DM . TAPBP 6 33299694 33314387 N . N Y 0.479822239 79.75921746 0.000393582 67.8 DM Bare lymphocyte syndrome, type I, 604571 (3) TAPBPL 12 6451690 6466517 N . N N 0.918841204 91.48000232 3.29E-07 84.4 . . TARBP1 1 234391313 234479103 N . N N -0.084215956 43.23667303 5.70E-16 97.4 . . TARM1 19 54069895 54081365 N . N N . . . . . . TARS 5 33440696 33469539 N . N N 0.890894084 90.95907854 1.19E-09 91 . . TARS2 1 150487364 150507609 N . N N -1.240483611 5.180297505 1.87E-08 88.2 . ?Combined oxidative phosphorylation deficiency 21, 615918 (3) TARSL2 15 101653598 101724604 N . N N -0.777975942 12.07385541 2.86E-09 90.2 . . TAS1R1 1 6555181 6579757 N . N Y 1.180983492 94.8486427 7.91E-09 89.2 DFP . TAS1R2 1 18839599 18859682 N . N Y 0.831189625 89.81883429 6.18E-13 95.4 DP . TAS1R3 1 1331314 1335306 N . N Y 2.22780173 98.894484 . . DFP . TAS2R1 5 9628997 9712378 N . N N -0.390831569 24.90594432 0.24158113 37.3 . . TAS2R10 12 10825317 10826358 N . N N 0.421560678 76.91728888 0.428565951 32 . . TAS2R13 12 10907926 10909562 N . N N 0.048171225 53.26734966 0.579968727 28 . . TAS2R14 12 10937406 11171573 N . N N 0.155126864 61.40533657 0.001055428 64.5 . . TAS2R16 7 122994704 122995700 N . N N 0.336156875 72.63992591 0.01499653 53.2 DP {Alcohol dependence}, 103780 (3) TAS2R19 12 11021619 11022620 N . N N 1.498562012 96.961278 0.004146198 58.9 DP . TAS2R20 12 10996495 10997875 N . N N 0.960037204 92.19771951 0.004476015 58.6 . . TAS2R3 7 141764097 141765197 N . N N 0.155126864 61.40533657 0.000144124 70.8 DM? . TAS2R30 12 11077313 11134644 N . N N 1.843930945 98.29831568 0.001703148 62.5 . . TAS2R31 12 11030387 11031407 N . N N 4.040805295 99.79163049 2.54E-05 75.6 DP . TAS2R38 7 141972631 141973773 N . N N 1.450667644 96.7123922 0.065390402 45.5 DP [Phenylthiocarbamide tasting], 171200 (3) TAS2R39 7 143183419 143184435 N . N N 0.034121997 52.16762169 5.30E-08 86.9 . . TAS2R4 7 141778442 141780819 N . N N 0.690721426 86.69329166 0.04973845 47 . . TAS2R40 7 143222037 143223079 N . N N 0.297684879 70.38258957 0.002499832 61.1 . . TAS2R41 7 143477873 143478796 N . N N 0.261126067 68.10210106 4.93E-09 89.6 . . TAS2R42 12 11185993 11186937 N . N N 0.7751713 88.66701395 0.002580997 61 . . TAS2R43 12 11091287 11134244 N . N N 4.081101534 99.80320658 0.002104274 61.7 DP . TAS2R46 12 11061365 11062294 N . N N 1.668445809 97.80633212 3.10E-08 87.6 FTV . TAS2R5 7 141790217 141791367 N . N N 0.578171457 83.38831973 0.000103903 71.7 . . TAS2R50 12 10985913 10986912 N . N N 0.025662211 51.48463275 1.89E-07 85.2 DP . TAS2R60 7 143443453 143444409 N . N N 0.358666204 73.88435492 6.30E-06 79.1 . . TAS2R7 12 10801532 10802627 N . N N 0.589500178 83.82242287 0.023077451 50.9 . . TAS2R8 12 10806051 10807293 N . N N 0.262082672 68.1773456 0.012468263 54 . . TAS2R9 12 10809137 10810168 N . N N 0.580084093 83.4809284 0.000278743 68.9 DFP . TAT 16 71565660 71577130 N . N N -0.462991075 21.75724952 0.021438444 51.3 DM Tyrosinemia, type II, 276600 (3) TATDN1 8 124488485 124539458 N . N N -0.072833607 44.24958037 1.73E-08 88.3 . . TATDN2 3 10248023 10281218 N . N N 0.282177121 69.42177461 0.000742651 65.8 . . TATDN3 1 212791828 212816626 N Viable N Y 0.993731808 92.69549112 4.62E-05 74.1 . . TAX1BP3 17 3662896 3668682 N . N N -0.141470476 39.31238062 0.002348033 61.3 . . TAZ X 154411518 154421726 N . N N 0.04051715 52.61908896 0.966526482 13.4 DM Barth syndrome, 302060 (3) TBATA 10 70771239 70785401 N . N Y 0.734932275 87.72356312 1.69E-07 85.4 . . TBC1D1 4 37891087 38139175 N . N N -0.180951479 36.67303351 3.94E-08 87.3 DP . TBC1D10A 22 30291990 30327046 N . N Y -0.040756318 46.57637321 0.975495335 12.4 . . TBC1D10B 16 30357102 30370264 N . N N . . 0.981784128 11.5 . . TBC1D10C 11 67403915 67410089 N . N Y -0.268868697 31.33645888 0.001609098 62.8 . . TBC1D12 10 94402504 94535930 N . N N -0.419886724 23.51681426 0.00264365 60.9 . . TBC1D13 9 128787204 128810432 N . N N -0.581281335 17.35833767 0.611736247 27.1 . . TBC1D15 12 71839707 71927248 N . N N -1.266821325 4.966139955 0.148718809 40.6 . . TBC1D16 17 79932343 80035848 N . N N -0.209348123 34.97134919 0.006198257 57.1 . . TBC1D17 19 49877425 49888749 N . N N -0.419584024 23.52839035 1.12E-12 95.2 . . TBC1D19 4 26576437 26755351 N . N N -0.564360358 17.79244082 0.016101241 52.8 . . TBC1D2 9 98198999 98255721 N . N N 0.356406043 73.76859408 2.31E-08 88 . . TBC1D20 20 435480 462553 N . N N -0.277328762 30.80974706 0.912642498 17.1 . Warburg micro syndrome 4, 615663 (3) TBC1D21 15 73873608 73889214 N . N N 0.162629888 61.97256468 0.022326759 51.1 . . TBC1D22A 22 46762617 47175699 N Viable N Y -0.215238485 34.57776234 0.957287978 14.2 . . TBC1D22B 6 37257772 37332970 N . N N -0.766947849 12.27064884 0.006370626 57 . . TBC1D23 3 100261000 100325251 N . N N -0.83623939 10.85836661 0.000111512 71.5 DM? . TBC1D24 16 2475118 2505734 N . N N -0.483435313 20.83695086 5.84E-07 83.5 DM Myoclonic epilepsy, infantile, familial, 605021 (3); Epileptic encephalopathy, early infantile, 16, 615338 (3); DOOR syndrome, 220500 (3); Deafness , autosomal recessive 86, 614617 (3); Deafness, autosomal dominant 65, 616044 (3) TBC1D25 X 48539457 48562609 N . N N -0.252905653 32.27412166 0.71197335 24.3 . . TBC1D26 17 15732247 15749192 N . N N 0.865213587 90.43815477 0.861486844 19.5 . . TBC1D28 17 18635006 18661950 N . N N 0.538742637 81.99918967 1.44E-05 77.1 . . TBC1D29 17 30557112 30563493 N . N N 0.512408218 80.9804943 8.25E-05 72.4 . . TBC1D2B 15 77984036 78077724 N . N Y -0.283571741 30.44510042 6.51E-05 73.1 . . TBC1D3 17 38181659 38192541 N . N N . . 0.455180215 31.2 . . TBC1D30 12 64781193 64881032 N . N N . . . . DM? . TBC1D31 8 123041968 123152153 N . N N -0.28901326 30.1383342 1.34E-09 90.9 . . TBC1D32 6 121079494 121334745 N . N N 0.06856934 54.7375123 1.35E-12 95.1 . . TBC1D3B 17 36165624 36264527 N . N N . . 0.636923623 26.4 . . TBC1D3C 17 37978470 38068592 N . N N . . 0.425665089 32.1 . . TBC1D3D 17 37924458 38139051 N . N N . . . . . . TBC1D3E 17 38005561 38138862 N . N N . . . . . . TBC1D3F 17 36377846 36439566 N . N N . . 0.620380557 26.9 . . TBC1D3G 17 36323884 36334759 N . N N . . 0.490002147 30.2 . . TBC1D3H 17 36377348 36439566 N . N N . . . . . . TBC1D3I 17 36253456 36439559 N . N N . . . . . . TBC1D3K 17 37924415 37935365 N . N N . . . . . . TBC1D3L 17 37977972 38068651 N . N N . . . . . . TBC1D4 13 75284665 75482114 Y Viable N Y -0.38545452 25.14325404 3.64E-13 95.7 DM {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3) TBC1D5 3 17157162 18444817 N . N N -0.686022693 14.34276784 6.52E-10 91.5 . . TBC1D7 6 13266542 13328583 N . N N 0.276132196 69.08028014 8.30E-06 78.5 . Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3) TBC1D8 2 101007617 101252866 N . N N -0.516836104 19.56936968 5.26E-07 83.6 . . TBC1D8B X 106802680 106876145 N . N N 0.460336422 78.83891879 1.87E-05 76.4 . . TBC1D9 4 140620765 140756120 N . N N -1.721597704 2.367309139 0.876941195 18.8 . . TBC1D9B 5 179862066 179907859 N . N N -1.023281722 7.559182728 1.49E-07 85.6 . . TBCA 5 77691166 77868780 N . N N 0.031100532 51.89558372 0.716435529 24.2 . . TBCB 19 36114289 36125947 N . N N -0.313083888 28.69711177 0.405521803 32.6 . . TBCC 6 42744481 42746096 N . N N 0.877497714 90.69861666 0.011002826 54.5 . . TBCCD1 3 186546073 186570543 N Viable N Y -0.278133044 30.72292643 0.012110984 54.2 . . TBCD 17 82752064 82945922 N . N N -1.053425601 7.171383921 6.98E-05 72.9 . . TBCE 1 235367360 235448968 N . N Y 0.519251431 81.23516814 6.29E-07 83.3 DM Kenny-Caffey syndrome-1, 244460 (3); Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3) TBCEL 11 121024072 121090775 N . N N -0.083207293 43.33506975 0.971498209 12.8 . . TBCK 4 106041599 106321495 N . N N -0.645637133 15.52352839 3.22E-06 80.4 . . TBKBP1 17 47694081 47712050 N Viable N Y 0.315560713 71.44180124 0.038377766 48.5 . . TBL1X X 9463295 9719743 N . N N -0.703247825 13.82763211 0.998500303 6.5 DM . TBL1XR1 3 177019355 177197396 N . N N -0.411581382 23.84673265 0.998821952 6.1 DM? . TBL1Y Y 6910686 7091683 N . N N . . . . DM? . TBL2 7 73568932 73578791 N . N N -0.375672502 25.64681368 0.004376507 58.7 . . TBL3 16 1972037 1982933 N . N N 0.4981674 80.38432598 1.54E-06 81.9 . . TBPL1 6 133952170 133990432 N . N Y 0.107088402 57.71835388 0.879617094 18.6 . . TBPL2 14 55413541 55456726 N . N Y 0.165499977 62.20408636 4.93E-08 87 . . TBRG1 11 124622836 124635398 N . N N . . 8.03E-05 72.6 . . TBRG4 7 45100100 45112047 N . N N -0.582889864 17.31203334 0.780939583 22.2 . . TBX10 11 67631303 67639560 Y Viable N Y -0.500506623 20.165538 2.15E-07 85.1 DM? . TBX19 1 168281040 168314426 N . N Y -0.104607368 41.83596689 2.80E-05 75.4 DM Adrenocorticotropic hormone deficiency, 201400 (3) TBX21 17 47733244 47746119 N . N Y -0.200384589 35.4691208 0.963242651 13.7 DFP {Asthma, aspirin-induced, susceptibility to}, 208550 (3); Asthma and nasal polyps, 208550 (3) TBXA2R 19 3594506 3606840 N . N Y 0.398094787 75.74231637 0.113768131 42.4 DM {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3) TBXAS1 7 139777051 140020325 N . N Y 0.822405902 89.59310065 1.37E-08 88.5 DM Ghosal hematodiaphyseal syndrome, 231095 (3); ?Thromboxane synthase deficiency, 614158 (1) TC2N 14 91779751 91867536 N . N N -0.218108998 34.42727325 0.012189329 54.1 . . TCAF1 7 143851375 143902198 N . N N . . . . . . TCAF2 7 143620950 143730409 N . N N . . . . . . TCAIM 3 44338119 44409451 N Viable N Y 0.029489373 51.73930659 4.46E-05 74.2 . . TCAP 17 39664187 39666555 N . N Y 0.391400129 75.43555015 0.075771008 44.7 DM Muscular dystrophy, limb-girdle, type 2G, 601954 (3); Cardiomyopathy, hypertrophic, 25, 607487 (3) TCEA2 20 64049836 64072347 N . N N -0.340224471 27.22116108 0.007817971 56.1 . . TCEA3 1 23381061 23424740 N . N N -0.284831791 30.36985588 0.000965886 64.9 . . TCEAL1 X 103628704 103630953 N . N N 0.355650049 73.72807779 0.488641004 30.3 . . TCEAL2 X 102125688 102127711 N . N N 0.209411733 65.03443885 0.679466606 25.2 . . TCEAL3 X 103607451 103629690 N . N N 0.057436789 53.89824622 0.60333907 27.4 . . TCEAL4 X 103576231 103587736 N . N N 0.191535973 63.89419459 0.683649622 25.1 . . TCEAL5 X 103273691 103276872 N Viable N Y 0.421412982 76.87677259 0.666797567 25.6 . . TCEAL6 X 102140476 102142970 N . N N 0.512408218 80.9804943 0.65079697 26 . . TCEAL7 X 103330196 103332326 N . N N 0.249648508 67.42490016 0.450194394 31.4 . . TCEAL8 X 103252995 103255203 N . N N 0.113634918 58.26821786 0.483466806 30.4 . . TCEANC X 13653189 13681964 N . N N 0.184989352 63.48903166 0.096354455 43.4 . . TCEANC2 1 54053587 54112519 N . N N -0.054152096 45.51716154 2.81E-05 75.4 . . TCEB1 8 73939169 73972287 N . N N 0.060156283 54.10082769 0.643993932 26.2 . . TCEB2 16 2771414 2777297 N . N N 0.664387272 86.06818313 0.020784292 51.4 . . TCEB3B 18 47032572 47035621 N . N N 1.25907294 95.50269144 1.80E-08 88.3 . . TCEB3C 18 47028202 47030078 N . N N . . . . . . TCEB3CL 18 46968695 47029842 N . N N . . . . . . TCEB3CL2 18 46962768 46964408 N . N N . . . . . . TCERG1 5 146447311 146511961 N . N N -1.888756662 1.927417955 0.999962712 3.1 . . TCERG1L 10 131092391 131311721 N . N N 0.718969098 87.40522081 0.000228294 69.4 . . TCF19 6 31158542 31167159 N Viable N Y 0.0931893 56.64756613 0.000232744 69.3 . . TCF20 22 42160013 42343616 N . N N -3.737760591 0.312554263 0.999977934 2.9 . . TCF23 2 27149004 27156974 N . N N 0.246927324 67.26862302 0.000503312 67 . . TCF24 8 66946501 66962590 N . N N . . . . . . TCF25 16 89873586 89911384 N . N N -0.505796918 19.9861087 0.051778277 46.8 . . TCF7 5 134114711 134151865 N . N Y -0.031491274 47.21884586 0.36155457 33.9 DP . TCFL5 20 62841115 62861763 N . N N 0.21515114 65.34120507 0.958069155 14.1 . . TCHH 1 152106317 152115454 N . N N 0.61598383 84.63853678 3.87E-23 99.1 . . TCHHL1 1 152084144 152089064 N . N N 0.16212845 61.93204839 2.23E-08 88 . . TCHP 12 109900264 109983841 N . N Y 0.67218594 86.23603635 7.00E-12 94.4 . . TCL1A 14 95709967 95714196 N . N Y -0.063568931 44.88047693 0.001223305 63.9 . Leukemia/lymphoma, T-cell (2) TCL1B 14 95686417 95692643 N . N N 0.194405525 64.08519998 0.004686731 58.4 . Leukemia/lymphoma, T-cell (2) TCN1 11 59852800 59866575 N . N N 0.844762943 90.11402443 3.86E-16 97.5 DM . TCN2 22 30606838 30627278 N . N N 1.175074932 94.79076229 0.022289553 51.1 DM Transcobalamin II deficiency, 275350 (3) TCP1 6 159778498 159789749 N . N N -0.668447919 14.80002315 0.989085752 10.1 DP . TCP10 6 167357031 167384510 N . N N 2.453837799 99.16073392 0.264645829 36.7 . . TCP10L 21 32574841 32587373 N . N N 0.113784984 58.30294611 0.001913614 62 . . TCP10L2 6 167146414 167196913 N . N N 1.698465346 97.89315275 0.694467188 24.8 . . TCP11 6 35118071 35148610 N . N N 0.245313747 67.19337848 4.01E-05 74.5 . . TCP11L1 11 33039417 33105943 N . N N -0.265040808 31.57376859 0.088046987 43.9 . . TCP11L2 12 106301929 106347015 N . N N 0.169326965 62.4587602 7.49E-07 83.1 . . TCP11X2 X 102374628 102471812 N . N N . . . . . . TCTA 3 49412206 49416475 N . N N 0.465476352 79.10516872 0.013264848 53.8 . . TCTE1 6 44278743 44297688 N . N Y 0.528668245 81.61139087 3.26E-07 84.4 FTV . TCTE3 6 169740114 169751587 N . N N 0.733830056 87.67725878 0.003218733 60 DM? . TCTEX1D1 1 66752459 66778787 N . N N 0.149386991 60.95386931 0.006424682 56.9 . . TCTEX1D2 3 196291219 196318299 N . N Y 0.427003903 77.20669098 0.000234712 69.3 . . TCTEX1D4 1 44805913 44806675 N . N N . . 0.208823534 38.5 . . TCTN2 12 123671113 123708403 N . N Y -0.784523017 11.86548591 1.97E-05 76.3 DM ?Meckel syndrome 8, 613885 (3) TCTN3 10 95663396 95694143 N . N N -0.501463696 20.08450541 6.44E-08 86.7 DM Orofaciodigital syndrome IV, 258860 (3); Joubert syndrome 18, 614815 (3) TDO2 4 155854738 155920406 N . N Y -0.659987499 15.04312091 1.52E-08 88.4 DP . TDP1 14 89954939 90044768 N . N N 0.144099113 60.53713029 1.11E-11 94.2 DM Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3) TDP2 6 24649977 24667033 N . N Y -0.221936642 34.22469179 0.000137008 70.9 . . TDRD1 10 114179270 114232304 N . N Y -0.810570593 11.36192626 0.999760762 4.4 . . TDRD10 1 154502219 154548147 N . N N 0.186095639 63.59900446 2.45E-06 80.9 . . TDRD12 19 32719753 32829580 N . N Y . . . . . . TDRD15 2 21123917 21143272 N . N N . . . . . . TDRD3 13 60396457 60573878 N . N N -0.260256521 31.86317069 0.000211829 69.7 . . TDRD5 1 179591613 179691272 N . N Y -0.664322798 14.91578399 0.975818615 12.3 . . TDRD6 6 46687875 46704319 N . N Y 1.470425911 96.83394108 6.46E-23 99.1 . . TDRD7 9 97411950 97496125 N . N Y -1.160525039 5.98483533 4.57E-05 74.2 DM Cataract 36, 613887 (3) TDRD9 14 103928462 104052667 N . N Y -0.698160609 13.98390924 3.82E-07 84.1 . . TDRKH 1 151770107 151791416 N Viable N Y 0.144904459 60.59501071 0.006962423 56.6 . . TDRP 8 489792 545781 N Viable N Y 0.158803293 61.65422238 0.001321928 63.6 . . TEAD3 6 35473597 35497076 N . N N 0.252666418 67.59275337 . . . . TEC 4 48135783 48269864 N . N Y -0.900094726 9.579209353 0.002573311 61 . Transient erythroblastopenia of childhood (2) TECPR1 7 98214624 98252251 N . N Y 0.316018337 71.47652949 2.43E-07 84.9 . . TECPR2 14 102362963 102502481 N . N N -1.127391372 6.326329803 0.94851586 14.9 DM Spastic paraplegia 49, autosomal recessive, 615031 (3) TECR 19 14517085 14565980 N . N N -0.074747377 44.06436303 0.75750139 22.9 DM Mental retardation, autosomal recessive 14, 614020 (3) TECRL 4 64275257 64409468 N . N N -0.06150319 44.99623777 6.40E-10 91.5 . . TECTA 11 121101173 121191493 N . N Y -1.451646107 3.652254442 1.06E-12 95.2 DM Deafness, autosomal dominant 8/12, 601543 (3); Deafness, autosomal recessive 21, 603629 (3) TECTB 10 112283735 112305035 N . N Y 0.158953701 61.6715865 5.95E-09 89.4 . . TEDDM1 1 182398117 182400616 N . N N -0.082250388 43.42189037 0.084146706 44.2 . . TEF 22 41367333 41399326 N . N Y -0.314041164 28.6045031 0.421035621 32.2 . . TEFM 17 30897336 30906820 N . N N -0.118808507 40.85199977 0.043302606 47.8 . . TEKT1 17 6789133 6831761 N . N N 1.109302711 94.06146901 0.000108975 71.6 . . TEKT2 1 36084075 36088275 N . N N 1.110259425 94.06725705 4.73E-09 89.6 DM? . TEKT3 17 15303811 15341641 N . N Y 0.605613802 84.32598252 3.20E-14 96.4 . . TEKT4 2 94871433 94876829 N . N Y 2.135999532 98.76714707 2.56E-11 93.7 . . TEKT5 16 10627501 10694945 N . N N 2.072285293 98.68032645 1.10E-14 96.7 . . TEN1 17 75979220 76000586 N . N N . . . . . . TEN1-CDK3 17 75979231 76005999 N . N N . . . . . . TENM1 X 124375903 124963817 N . N N -0.294170957 29.75053539 0.999995817 2.2 . . TENM2 5 167284799 168264157 N . N Y . . 0.99995109 3.2 . . TENM3 4 182143987 182803024 N . N Y -2.177143055 1.325461596 0.999937944 3.4 DM ?Microphthalmia, isolated, with coloboma 9, 615145 (3) TEP1 14 20365667 20413429 N Viable N Y 2.968833249 99.51380448 4.51E-24 99.2 DP . TEPP 16 57976435 57988116 N . N N -0.132857585 39.9027609 6.80E-05 73 . . TERT 5 1253147 1295069 N . N Y -0.591349706 17.00526712 0.866151189 19.2 DM {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3); {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3); {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3); {Leukemia, acute myeloid}, 601626 (3); {Melanoma, cutaneous malignant, 9}, 615134 (3) TES 7 116210493 116258783 N . N Y -0.054000211 45.52294959 4.84E-11 93.4 . . TESC 12 117038923 117099479 N . N N -0.133967403 39.81015223 0.692139731 24.8 . . TESK1 9 35605305 35610041 N . N N -0.442243367 22.62545581 0.999003535 5.9 . . TESK2 1 45343883 45491166 N . N N 0.340134142 72.88302367 8.65E-06 78.4 . . TESPA1 12 54948018 54984746 N . N Y 1.039855766 93.26271922 1.92E-05 76.3 . . TET3 2 73986404 74108176 N . N N -1.225905481 5.348150721 0.999942651 3.4 . . TEX10 9 100302077 100352939 N . N N -0.953425857 8.682062858 0.999988107 2.6 . . TEX101 19 43401496 43418597 N . N Y 0.098778904 57.07588123 0.000898939 65.1 . . TEX11 X 70528940 70908731 N . N Y 0.198382189 64.28778144 0.999964221 3.1 . Spermatogenic failure, X-linked, 2, 309120 (3) TEX12 11 112167372 112172559 N . N Y 0.078032613 55.54205012 0.133134682 41.4 . . TEX13A X 105218929 105220674 N . N N . . 0.007481489 56.3 . . TEX13B X 107980864 107982370 N . N N 1.00682807 92.85176825 0.025228035 50.5 DM? . TEX14 17 58556678 58692055 N . N Y 0.030400882 51.8377033 6.67E-23 99.1 FTV . TEX15 8 30831544 30890606 N . N Y 0.622527032 84.82954217 3.89E-17 97.9 . . TEX2 17 64147227 64263301 N . N N -0.615478783 16.32806622 0.44097988 31.7 . . TEX22 14 105398579 105450106 N . N N . . . . . . TEX26 13 30932703 30975502 N . N N 0.717056351 87.32997627 8.72E-09 89.1 . . TEX261 2 70985938 70994945 N . N N 0.004915377 49.86976906 0.000195342 69.9 . . TEX264 3 51662693 51704323 N . N N -0.208844572 35.00607744 0.910814339 17.2 . . TEX28 X 154271265 154295853 N . N N . . . . . . TEX29 13 111316184 111344249 N . N N 0.527414817 81.53035828 0.001451668 63.2 . . TEX30 13 102765990 102773811 N . N N 0.315412023 71.43022515 0.006295441 57 . . TEX33 22 36991120 37007841 N . N N 0.841746956 90.04456792 0.000322691 68.4 . . TEX35 1 178513077 178548602 N . N N 0.7047722 87.01163396 0.001664771 62.6 . . TEX36 10 125576522 125683144 N . N N . . . . . . TEX37 2 88524651 88529584 N Viable N Y 0.773259281 88.62070961 3.71E-06 80.1 . . TEX38 1 46668855 46673594 N . N N . . . . . . TEX40 11 64300446 64304770 N . N N . . 0.477043302 30.6 . . TEX43 5 126631722 126636287 N . N N . . . . . . TEX9 15 56244009 56445997 N . N N -0.074595468 44.09909128 2.59E-17 97.9 . . TFAP2D 6 50713828 50772988 N . N Y -0.629974609 15.88238699 0.981586998 11.5 . . TFAP2E 1 35573370 35595328 N . N N 0.283635266 69.52017133 0.000972259 64.8 . . TFB2M 1 246540560 246566324 N . N N -0.166544931 37.66857672 9.62E-05 72 . . TFCP2 12 51093663 51173134 N . N Y -0.467776875 21.53730393 0.000102419 71.8 DP . TFDP2 3 141944428 142149544 N . N N -0.201341563 35.40545234 0.975087598 12.4 . . TFDP3 X 133216669 133218348 N . N N 0.169176254 62.44718412 2.30E-06 81 . . TFE3 X 49028726 49043486 N . N Y 0.236703709 66.62615037 0.97374221 12.6 . Renal cell carcinoma, papillary, 1, 300854 (3) TFEC 7 115935148 116159896 N Viable N Y -0.169415642 37.44284309 4.73E-05 74 . . TFF1 21 42362282 42366594 N . N Y 0.321002544 71.81802396 0.00630356 57 DP . TFF2 21 42346357 42351128 N . N Y 0.875442305 90.66388841 0.000144474 70.8 . . TFF3 21 42311667 42315651 N . N Y 0.39603475 75.62655554 0.08568702 44.1 . . TFG 3 100709331 100748966 N . N N 0.019116005 51.00422527 0.757056423 22.9 DM Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3); ?Spastic paraplegia 57, autosomal recessive, 615658 (3) TFIP11 22 26491225 26512505 N . N N -0.977703817 8.271111883 1.97E-06 81.3 . . TFPI2 7 93885397 93890991 N . N N 0.577215218 83.32465127 0.237365842 37.5 . . TFPT 19 54107013 54115675 N . N N 0.313647588 71.30867627 0.00019137 69.9 . . TFR2 7 100620416 100642779 N . N Y 0.646958153 85.54725936 0.000139031 70.9 DM Hemochromatosis, type 3, 604250 (3) TG 8 132866958 133134903 N . N Y 2.673752433 99.28807085 2.63E-29 99.6 DM Thyroid dyshormonogenesis 3, 274700 (3); {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) TGDS 13 94574051 94596257 N . N N -0.232310623 33.58800718 8.78E-06 78.4 . Catel-Manzke syndrome, 616145 (3) TGFA 2 70447280 70554193 N . N Y 0.760976889 88.32551948 0.574368122 28.1 . . TGFB1I1 16 31471585 31477960 N . N N 0.006980435 50.03762227 0.074916919 44.8 . . TGFBI 5 136028895 136063818 N . N Y 0.254882613 67.75481854 0.00372244 59.3 DM Corneal dystrophy, Groenouw type I, 121900 (3); Corneal dystrophy, lattice type I, 122200 (3); Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Avellino type, 607541 (3); Corneal dystrophy, lattice type IIIA, 608471 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3); Corneal dystrophy, epithelial basement membrane, 121820 (3) TGFBR3L 19 7916145 7919097 N . N N . . . . . . TGFBRAP1 2 105264391 105330034 N . N N -1.453329976 3.629102275 0.129423466 41.6 DP . TGIF2-C20orf24 20 36574553 36612384 N . N N -0.239967611 33.04971928 0.932314275 16 . . TGIF2LX X 89921882 89922883 N . N N 0.110914976 58.05984835 0.592887022 27.6 . . TGIF2LY Y 3579041 3580041 N . N N . . 0.076870762 44.6 . . TGM2 20 38127387 38166578 N . N Y 0.356250497 73.76280604 4.86E-14 96.3 DM . TGM3 20 2296001 2341078 N . N Y 0.646156788 85.53568328 9.87E-06 78.1 . . TGM4 3 44874608 44914990 N . N Y 1.441706702 96.66608786 1.14E-11 94.2 DM? . TGM5 15 43232595 43266857 N . N N 0.741784085 87.90878046 5.37E-16 97.4 DM Peeling skin syndrome 2, 609796 (3) TGM6 20 2380908 2432753 N . N N 3.077640723 99.56589686 2.76E-18 98.2 DM Spinocerebellar ataxia 35, 613908 (3) TGM7 15 43276280 43302255 N . N N 1.129251893 94.32193089 6.34E-10 91.5 . . TGOLN2 2 85318020 85328425 N . N N 0.598916451 84.09446084 0.000179691 70.1 . . THADA 2 43230836 43596046 N Viable N Y 0.20441999 64.64664004 1.24E-28 99.6 DP . THAP1 8 42836674 42843325 N . N N 0.063983137 54.4886265 0.899169328 17.8 DM Dystonia 6, torsion, 602629 (3) THAP10 15 70881342 70892785 N . N N -0.053195214 45.56346588 0.001194344 64 . . THAP2 12 71663009 71680639 N . N N 0.05935026 54.0603114 5.17E-05 73.8 . . THAP3 1 6624866 6635586 N . N N 0.554705396 82.60114603 0.001484225 63.1 . . THAP4 2 241584405 241637449 N . N N -0.327783769 27.85784569 0.116840641 42.3 . . THAP5 7 108554543 108569750 N . N N -0.161108498 37.92903861 0.002792035 60.6 . . THAP6 4 75513946 75550473 N . N N 0.825783966 89.65098107 0.001440423 63.2 . . THAP7 22 20999104 21002196 N . N N -0.197666633 35.6485501 0.029327855 49.8 . . THAP8 19 36034985 36054762 N . N N 0.309821667 71.05979047 0.000639752 66.3 . . THAP9 4 82900684 82919969 N . N N -0.44496303 22.49233084 7.48E-10 91.3 . . THBS1 15 39581079 39599466 Y Viable N Y -0.47563866 21.2015975 0.999073127 5.8 DM . THBS2 6 169215780 169254044 N . N Y -0.550531951 18.19181571 0.245000803 37.3 DP {Lumbar disc herniation, susceptibility to}, 603932 (3) THBS3 1 155195588 155209051 N . N Y -1.634399379 2.731955779 1.21E-08 88.7 . . THBS4 5 79991311 80083287 N . N Y -0.471003248 21.38681484 1.74E-08 88.3 DP . THEG 19 361747 376670 N . N N 1.734225362 97.9973375 4.93E-07 83.8 . . THEGL 4 56530609 56603507 N Viable N Y . . . . . . THEM4 1 151873584 151909808 N . N Y 0.044344174 52.90849106 0.000241348 69.2 . . THEM5 1 151847263 151853697 N . N Y 0.493723196 80.22226081 5.98E-07 83.4 . . THEM6 8 142727203 142736927 N . N N . . 0.02427983 50.6 . . THEMIS 6 127708072 127918631 N . N Y 0.320495832 71.79487179 0.14251698 40.9 . . THEMIS2 1 27872543 27886685 N . N Y 0.210669154 65.1386236 0.064721712 45.5 . . THG1L 5 157731197 157741448 N . N N 0.087599756 56.28870753 3.48E-05 74.8 . . THNSL1 10 25016658 25026664 N . N N -0.131597747 39.96642936 5.62E-12 94.6 . . THNSL2 2 88170295 88186636 N . N N 0.830712876 89.8072582 3.94E-06 80 . . THOC2 X 123600561 123733056 N . N N -1.277195716 4.873531284 0.999999919 1.1 DM Mental retardation, X-linked 12/35, 300957 (3) THOC3 5 175917873 176034680 N . N N 0.308865253 70.99612201 . . . . THOC6 16 3024027 3027755 N . N N -0.705007026 13.7986919 0.002193448 61.5 DM Beaulieu-Boycott-Innes syndrome, 613680 (3) THOC7 3 63833870 63863903 N . N N -0.238053216 33.17126816 0.978320489 12 . . THOP1 19 2785460 2815807 N . N N -0.734721565 13.02888233 0.023492093 50.8 . . THPO 3 184371935 184378144 N Viable N Y -0.033404934 47.05678069 0.005140229 58 DM Thrombocythemia 1, 187950 (3) THRAP3 1 36224416 36305357 N . N N -0.941141259 8.83833999 0.999996899 2.1 . . THRB 3 24117160 24495282 N . N Y -0.238856623 33.14811599 0.994541861 8.6 DM Thyroid hormone resistance, 188570 (3); Thyroid hormone resistance, autosomal recessive, 274300 (3); Thyroid hormone resistance, selective pituitary, 145650 (3) THRSP 11 78063861 78068351 N . N Y 0.140927298 60.26509232 0.00560131 57.6 . . THSD1 13 52377167 52406494 N Viable N Y -0.818215884 11.22301325 2.45E-05 75.7 . . THSD4 15 71096952 71783383 N . N N 0.284247047 69.54332349 0.001818272 62.3 . . THSD7A 7 11370357 11832198 N . N N -1.289534625 4.751982404 0.999280749 5.6 DM? . THSD7B 2 136765545 137677717 N . N N . . 5.65E-06 79.3 DM? . THTPA 14 23555988 23560271 N . N N -0.377739799 25.58314522 0.000116051 71.4 . . THUMPD1 16 20733664 20742084 N . N N 0.370803213 74.41685478 0.001035463 64.6 . . THUMPD2 2 39736060 39779267 N . N N -0.407598535 24.04931412 1.94E-08 88.2 . . THUMPD3 3 9362842 9386791 N . N N 0.533300984 81.79660821 4.00E-11 93.5 . . THY1 11 119417378 119424985 N . N Y 0.056480057 53.81721364 0.164135342 40 . . THYN1 11 134248279 134253370 N . N N -0.129182361 40.14585866 1.40E-09 90.9 . . TIAF1 17 29073521 29078857 N . N N 0.351015356 73.42131157 0.026393545 50.3 . . TIAM1 21 31118416 31559977 N . N Y -0.69474891 14.11124617 0.999932006 3.5 . . TIAM2 6 154832697 155257723 N . N N 0.457477225 78.68264166 0.124829516 41.8 . . TICAM1 19 4815932 4831704 N . N Y 0.962256069 92.22665972 0.852477311 19.8 DM {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3) TICAM2 5 115578650 115602479 N . N Y 0.333287484 72.48364878 0.004709637 58.4 . . TICRR 15 89575482 89631056 N . N N 1.339715191 96.04676738 9.15E-12 94.3 . . TIFA 4 112274542 112285903 N . N N 0.527414817 81.53035828 0.118201141 42.2 . . TIFAB 5 135444218 135452399 N . N N 0.354840535 73.70492562 1.15E-06 82.4 . . TIGAR 12 4321205 4354593 N . N Y . . . . . . TIGD1 2 232547968 232550592 N . N N . . . . . . TIGD2 4 89111500 89114899 N . N N -0.748112675 12.68738786 7.02E-06 78.9 . . TIGD3 11 65354767 65357613 N . N N -0.643066859 15.59298489 7.78E-11 93.1 . . TIGD4 4 152769354 152779764 N . N N 0.31284098 71.27973607 0.001924505 62 . . TIGD5 8 143597835 143603224 N . N N . . 0.000172429 70.3 . . TIGD6 5 149993118 150001167 N . N N 0.914207853 91.36424148 4.86E-06 79.6 . . TIGD7 16 3298832 3305729 N . N N 0.46481599 79.08201655 1.87E-07 85.3 . . TIGIT 3 114276913 114310288 N . N Y 0.060307001 54.1297679 0.0451499 47.6 . . TIMD4 5 156919282 156963255 N . N Y 0.676818883 86.32864502 4.34E-08 87.2 . . TIMM10 11 57528463 57530803 N . N N -0.006414986 48.96104648 0.009494762 55.2 . . TIMM10B 11 6481447 6484679 N . N N 0.473935719 79.48717949 0.00115871 64.1 . . TIMM13 19 2425624 2427894 N . N N 0.010504826 50.32702437 0.309091874 35.5 . . TIMM17A 1 201955491 201970661 N . N N 0.086492393 56.17873473 0.243777584 37.3 . . TIMM17B X 48893447 48898143 N . N N 0.168070043 62.3893037 0.826908629 20.7 . . TIMM21 18 74148511 74160530 N . N N 0.153213524 61.2432714 0.005320931 57.8 . . TIMM23B 10 49942033 49974850 N . N N . . . . . . TIMM44 19 7926718 7943920 N . N N -0.088644586 42.93569485 0.818201942 21 DM . TIMM8A X 101345661 101349196 N . N N 0.090168851 56.43919662 0.605876721 27.3 DM Deafness, X-linked 1, progressive (3); Mohr-Tranebjaerg syndrome, 304700 (3); Jensen syndrome, 311150 (3) TIMM8B 11 112084800 112086798 N . N N 0.078989305 55.61150663 0.226807933 37.8 . . TIMM9 14 58408494 58427614 N . N N 0.107088402 57.71835388 0.437845525 31.7 . . TIMP1 X 47582313 47586789 N . N Y 1.208480766 95.09752851 0.766877188 22.7 DP . TIMP2 17 78852977 78925387 N . N Y 0.087449076 56.25976732 0.526868279 29.2 DP . TIMP3 22 32801701 32863043 N Viable N Y -0.201495045 35.359148 0.112088669 42.5 DM Sorsby fundus dystrophy, 136900 (3) TIMP4 3 12153051 12159351 N . N Y -0.331764245 27.65526422 0.003554031 59.6 . . TINAG 6 54307859 54390152 N . N N 0.539042257 82.01076576 4.11E-18 98.2 DM . TINAGL1 1 31576485 31587686 N . N N -0.463948146 21.72830931 0.245105548 37.2 . . TIPIN 15 66336206 66386746 N . N N 0.44120081 77.9417723 0.009832085 55 . . TIPRL 1 168178933 168202114 N . N N -0.177071645 36.92770736 0.86724967 19.2 . . TIRAP 11 126283065 126298845 N . N Y 0.662620317 85.99872663 0.002669231 60.8 DM {Pneumococcal disease, invasive, protection against}, 610799 (3); {Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Tuberculosis, protection against}, 607948 (3) TISP43 2 130570829 130584161 N . N N . . . . . . TJAP1 6 43477523 43506556 N . N N 0.400158571 75.84650113 0.001059393 64.5 . . TJP1 15 29699367 29968865 N . N Y -1.728770415 2.349945014 0.999999982 0.9 . . TJP3 19 3708109 3750813 N . N Y 2.453742141 99.15494588 2.20E-21 98.9 . . TKFC 11 61333210 61353295 N . N N . . . . . . TKTL1 X 154295671 154330350 N . N Y -0.478802164 21.05110841 0.997026231 7.5 . . TKTL2 4 163471093 163473746 N . N N 0.555005615 82.6242982 8.54E-05 72.4 . . TLCD1 17 28724348 28727935 N . N N -0.195752553 35.7874631 0.011149875 54.5 . . TLCD2 17 1702790 1710438 N . N N . . . . . . TLDC1 16 84476421 84554033 N . N N 1.509245404 97.00179429 2.29E-12 95 . . TLDC2 20 36876121 36894235 N . N N 1.230176303 95.30589801 0.113178686 42.5 . . TLE1 9 81583683 81689305 N . N N -1.020958787 7.611275106 0.957285091 14.2 . . TLE2 19 2997638 3047635 N . N N -1.040601561 7.368177346 0.000766445 65.6 . . TLE4 9 79571773 79726882 N . N N -1.099822064 6.581003646 0.99992164 3.6 . . TLE6 19 2977446 2995184 N . N N 0.061566363 54.27446895 0.001011458 64.7 . . TLK1 2 170990823 171231314 N . N N -0.826974718 11.0088557 0.999994768 2.3 FTV . TLK2 17 62458658 62615481 N . N N -0.979916263 8.242171673 0.999999806 1.2 . . TLL2 10 96364606 96513918 N . N Y -0.741944641 12.8320889 2.18E-19 98.5 . . TLN2 15 62390526 62844631 N . N Y -3.508806826 0.382010766 0.999853231 4.1 . . TLR1 4 38790677 38856817 N . N Y 1.592752951 97.44747352 2.02E-14 96.5 DFP {Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3) TLR10 4 38772239 38782990 N . N N 1.634904946 97.65584303 8.43E-08 86.3 DP . TLR2 4 153701500 153705699 N . N Y 0.451876138 78.42217978 9.23E-05 72.1 DFP {Leprosy, susceptibility to}, 246300 (3); {Colorectal cancer, susceptibility to}, 114500 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) TLR3 4 186069152 186088069 N . N Y -0.16719952 37.58175609 0.001211245 64 DM {Herpes simplex encephalitis, susceptibility to, 2} 613002 (3); {HIV1 infection, resistance to}, 609423 (3) TLR4 9 117704332 117716871 N . N Y 0.709856007 87.1273948 4.18E-06 79.9 DM? Endotoxin hyporesponsiveness (3); {Macular degeneration, age-related, 10}, 611488 (3); {Colorectal cancer, susceptibility to}, 114500 (3) TLR5 1 223109406 223143282 N . N Y 0.637695968 85.29837356 5.69E-09 89.5 DM? {Legionaire disease, susceptibility to}, 608556 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (2); {Melioidosis, susceptibility to}, 615557 (3) TLR6 4 38823715 38856817 N . N Y 0.488434514 80.02546738 0.007304908 56.4 DFP . TLR7 X 12867083 12890380 N . N Y -0.574581061 17.50882676 0.872917549 18.9 DFP . TLR8 X 12906620 12923169 N . N Y -0.27063003 31.24385021 0.931026133 16.1 DFP . TLR9 3 52221080 52226163 N . N Y -1.500135096 3.368640389 0.000525226 66.9 DM . TLX1 10 101130505 101137789 N . N Y 0.058393523 53.97927881 0.463723105 31.1 . . TM2D1 1 61681046 61725423 N . N N . . 0.042061483 48 . . TM2D2 8 38988808 38996824 N . N N -0.05223834 45.61555826 0.071028872 45 . . TM2D3 15 101621444 101652391 N . N N 0.344616494 73.13190948 0.000338995 68.3 . . TM4SF1 3 149369022 149377865 N . N N -0.318672489 28.34982925 0.00085911 65.3 . . TM4SF18 3 149318498 149334414 N . N N 0.066853307 54.65069167 2.10E-07 85.1 . . TM4SF19 3 196319342 196338503 N . N N 0.354840535 73.70492562 0.013930843 53.6 DM? . TM4SF19-TCTEX1D2 3 196316082 196338373 N . N N . . . . . . TM4SF20 2 227362156 227381995 N . N N 0.577215218 83.32465127 2.19E-06 81.1 DM {Specific language impairment 5}, 615432 (3) TM4SF4 3 149473974 149503281 N Viable N Y 0.380219143 74.93777855 0.002511015 61.1 . . TM4SF5 17 4771884 4783213 N . N N 0.257299872 67.86479134 1.24E-05 77.5 . . TM6SF1 15 83107407 83144854 N . N N -0.27637172 30.86762748 6.47E-05 73.2 . . TM6SF2 19 19264364 19273391 N . N N 0.339983147 72.87144759 1.94E-05 76.3 . . TM7SF2 11 65111845 65116384 N . N Y 0.263039301 68.2178619 0.000447934 67.4 . . TM7SF3 12 26973195 27014434 N . N N -0.179637179 36.77143023 0.089899598 43.8 . . TM9SF1 14 24189143 24195687 N . N N -0.608269539 16.50749551 0.000166484 70.3 . . TM9SF2 13 99501417 99564006 N . N N -0.932023003 9.000405163 0.99992836 3.5 . . TM9SF3 10 96518109 96587452 N . N N -0.680738037 14.48168085 0.999654187 4.8 . . TM9SF4 20 32109506 32167258 N . N Y -0.414144703 23.73097181 0.999970772 3 . . TMA16 4 163494442 163520539 N . N N 0.549924771 82.42171673 0.029470024 49.7 . . TMA7 3 48440257 48444208 N . N N -0.013918082 48.39381837 0.010007308 54.9 . . TMBIM1 2 218274192 218292586 N . N Y -0.147863581 38.90142965 7.40E-05 72.8 . . TMBIM4 12 66135846 66170072 N . N N 0.04243066 52.74063784 0.002079962 61.7 . . TMBIM6 12 49707725 49764934 N . N N -0.089753398 42.80835793 0.016169744 52.8 . . TMC1 9 72521801 72836351 N . N Y -0.755465733 12.47323031 3.81E-07 84.1 DM Deafness, autosomal recessive 7, 600974 (3); Deafness, autosomal dominant 36, 606705 (3) TMC2 20 2536607 2641784 N . N Y 0.512056899 80.96313017 7.89E-16 97.3 . . TMC3 15 81331217 81374213 N Viable N Y 0.708259536 87.07530243 9.78E-16 97.3 DM? . TMC4 19 54160108 54173250 N . N N -0.356839227 26.4918678 9.29E-09 89 . . TMC5 16 19410496 19499113 N . N N 0.784251737 88.86959542 0.000196303 69.8 . . TMC6 17 78110458 78132407 N . N Y 0.528821762 81.62296695 5.08E-08 86.9 DM Epidermodysplasia verruciformis, 226400 (3) TMC7 16 18983934 19063942 N . N N -0.049064732 45.89917231 4.32E-06 79.8 . . TMC8 17 78130770 78142968 N . N Y -0.042518524 46.39694391 5.57E-12 94.6 DM Epidermodysplasia verruciformis, 226400 (3) TMCC1 3 129647792 129893576 N . N N -0.986462395 8.103258668 0.209385317 38.5 . . TMCC2 1 205228176 205273343 N . N N -0.495572089 20.39127163 0.288835547 36 . . TMCC3 12 94567124 94650562 N . N N -0.074595468 44.09909128 0.000392184 67.8 . . TMCO1 1 165724293 165827755 N . N N -0.162065544 37.85379406 9.55E-07 82.6 DM Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3) TMCO2 1 40245947 40251691 N . N N 0.018964694 50.97528506 0.039711313 48.4 . . TMCO3 13 113490995 113554590 N . N N 0.628277759 84.99739538 6.68E-10 91.4 . . TMCO4 1 19682213 19799945 N . N N 1.752269113 98.066794 9.98E-13 95.3 . . TMCO5A 15 37921939 37967724 N . N N 0.244206777 67.1412861 0.000421007 67.6 . . TMCO6 5 140639427 140645408 N . N N -0.255624009 32.14678474 8.15E-06 78.6 . . TMED1 19 10832438 10836318 N . N N 0.26384649 68.31047057 0.000162417 70.4 . . TMED3 15 79311062 79427432 N . N N 0.486219979 79.93864676 0.002656742 60.9 . . TMED4 7 44577894 44582287 N . N N -0.132053341 39.94906523 0.292927703 35.9 . . TMED5 1 93149742 93180728 N . N N 0.104368575 57.54471262 0.002437131 61.2 . . TMED6 16 69343248 69351809 N . N N 0.94216169 91.88516525 0.000563599 66.7 . . TMED7 5 115613508 115632992 N . N N -0.140513426 39.38183712 0.363701355 33.8 . . TMED7-TICAM2 5 115578642 115626161 N . N N 0.019116005 51.00422527 0.004709637 58.4 . . TMED8 14 77335021 77377109 N . N N -0.119765437 40.78833131 0.084324998 44.1 . . TMED9 5 177592158 177596124 N . N N -0.167654501 37.52966371 0.159567867 40.2 . . TMEFF1 9 100473113 100577636 N . N N -0.099170261 42.1543092 0.551607066 28.6 . . TMEM101 17 44011188 44023946 N . N N -0.213629789 34.6819471 0.161635624 40.1 . . TMEM102 17 7435443 7437679 N . N N 0.255536257 67.80112288 . . . . TMEM104 17 74776483 74839779 N . N N 0.753918416 88.17503039 2.89E-05 75.3 . . TMEM105 17 81311270 81330674 N . N N 0.679394134 86.39231348 0.011619609 54.3 . . TMEM106A 17 43211835 43220041 N . N N 0.469300995 79.2961741 0.000328022 68.4 . . TMEM106B 7 12211241 12243367 N Viable N Y -0.272697012 31.12808937 0.515078464 29.6 DFP . TMEM106C 12 47963569 47968878 N . N N 0.311734573 71.17555131 3.96E-06 80 . . TMEM108 3 133038391 133397792 N Viable N Y -0.175809925 37.02031603 0.98371876 11.1 . . TMEM109 11 60913874 60923443 N . N Y -0.090710311 42.74468947 0.051890547 46.8 . . TMEM11 17 21197280 21214624 N . N N -0.42004192 23.49945014 0.784308456 22.2 . . TMEM110 3 52836219 52897596 N . N N -0.251145013 32.40145859 0.901349033 17.7 . . TMEM110-MUSTN1 3 52833121 52897562 N . N N 0.176679292 62.95653181 0.684628072 25 . . TMEM114 16 8537605 8590193 N . N N . . . . DM . TMEM115 3 50354749 50359610 N . N N -0.194795544 35.85113156 0.876895269 18.8 . . TMEM116 12 111931282 112013185 N . N N 0.243250221 67.10655785 1.15E-09 91 . . TMEM117 12 43835967 44389762 N . N N -0.144992854 39.06349482 3.57E-05 74.8 . . TMEM119 12 108589846 108598320 N Viable N Y 0.118568504 58.65022863 0.009567375 55.1 . . TMEM120A 7 75986837 75994659 N . N N 0.21021973 65.0691671 . . . . TMEM120B 12 121712752 121783001 N . N N 0.732063112 87.61937836 0.264378756 36.7 . . TMEM121 14 105526603 105530202 N . N N . . 0.178807336 39.4 . . TMEM123 11 102396332 102470384 N . N Y 0.279809186 69.29443769 0.605287081 27.3 . . TMEM125 1 43269994 43274002 N . N N 0.833287532 89.86513862 0.000428556 67.5 . . TMEM126A 11 85647967 85656547 N . N Y 0.42987242 77.39769636 0.004874178 58.2 DM Optic atrophy 7, 612989 (3) TMEM126B 11 85628573 85636539 N . N N 0.438331876 77.80285929 0.000531076 66.9 . . TMEM127 2 96248516 96265994 N . N Y 0.021835061 51.22417086 0.101457374 43 DM {Pheochromocytoma, susceptibility to}, 171300 (3) TMEM128 4 4235542 4248212 N . N N 0.192492475 63.9636511 0.110058363 42.6 . . TMEM129 4 1715952 1721358 N . N N . . 1.57E-06 81.8 . . TMEM130 7 98846488 98870771 N . N N -0.148668402 38.83776119 1.29E-08 88.6 . . TMEM131 2 97756333 97995891 N . N N -1.134896002 6.187416797 0.999999482 1.5 . . TMEM132B 12 125186836 125662377 N . N N -0.621070679 16.15442496 0.455834501 31.2 . . TMEM132C 12 128267403 128707915 N . N N . . 0.66707188 25.6 . . TMEM132D 12 129071725 129903666 N . N N -1.364923403 4.19054234 0.999010387 5.9 DM? . TMEM132E 17 34580749 34639318 N . N N -0.471959308 21.35208659 2.40E-05 75.8 . . TMEM133 11 100991989 100993941 N . N N 0.306952505 70.86878509 0.025317131 50.4 . . TMEM134 11 67461710 67469272 N . N N . . 3.03E-08 87.6 . . TMEM135 11 87037844 87323758 N . N N 0.072593755 55.0963709 0.879933359 18.6 DM . TMEM136 11 120325129 120333682 N Viable N Y 0.423325465 77.03304972 0.034871924 49 . . TMEM138 11 61362001 61369509 N . N N 0.163436574 62.02465706 0.531121157 29.1 DM Joubert syndrome 16, 614465 (3) TMEM139 7 143279957 143288048 N . N N 0.530283168 81.66927129 0.018754136 52 . . TMEM140 7 135148072 135166215 N . N N 0.529327004 81.64033108 0.039728243 48.3 . . TMEM141 9 136791355 136793257 N . N N 0.189623012 63.7437055 0.099111972 43.2 . . TMEM143 19 48332356 48364237 N . N N 0.474232641 79.51033165 3.71E-08 87.4 . . TMEM144 4 158201604 158255411 N . N N -0.009939149 48.69479655 7.82E-08 86.4 . . TMEM145 19 42313325 42325062 N . N N -0.447027861 22.42866238 8.14E-05 72.5 . . TMEM147 19 35545595 35547526 N . N N -0.358102358 26.39347109 0.137954529 41.2 . . TMEM14A 6 52671109 52686588 N . N N 0.509540192 80.83000521 0.121253231 42 . . TMEM14B 6 10747759 10852753 N . N N 0.534918128 81.86027667 6.48E-07 83.3 . . TMEM14E 3 152340527 152340904 N . N N 0.502992837 80.54639116 0.185564714 39.1 . . TMEM150A 2 85598548 85603196 N . N N -0.197666633 35.6485501 0.145714084 40.8 . . TMEM150B 19 55312801 55334048 N . N N 0.250753302 67.48856862 4.55E-06 79.7 . . TMEM150C 4 82483170 82562357 N . N N 0.080902701 55.81408809 0.011339251 54.4 . . TMEM151A 11 66291870 66296664 N . N N . . 0.788175023 22 . . TMEM151B 6 44270466 44307506 N Viable N Y . . . . . . TMEM154 4 152618632 152680165 N . N N 0.08936246 56.39289228 0.000320383 68.4 . . TMEM155 4 121758933 121765427 N . N N 0.828509349 89.72622562 0.00120021 64 . . TMEM156 4 38966744 39032922 N . N N 0.654160748 85.75562887 5.76E-09 89.5 . . TMEM158 3 45224466 45226278 N . N N . . 0.382809463 33.2 . . TMEM159 16 21158377 21180616 N . N N 0.215958347 65.40487353 0.003174027 60.1 . . TMEM160 19 47045907 47048630 N . N N . . 0.654855933 25.9 . . TMEM161A 19 19119169 19138513 N . N N -0.183464709 36.53990855 2.05E-06 81.3 . . TMEM163 2 134455759 134719000 N . N N -0.130139339 40.0821902 0.067262465 45.3 . . TMEM164 X 110002631 110182734 N . N N 0.063983137 54.4886265 0.877400449 18.7 . . TMEM165 4 55395957 55453397 N . N N -0.275568538 30.94287203 0.943796614 15.3 DM Congenital disorder of glycosylation, type IIk, 614727 (3) TMEM167A 5 83052846 83077863 N . N Y 0.167113525 62.29669503 0.388457895 33.1 . . TMEM167B 1 109089803 109096934 N . N N 0.015137522 50.6627308 0.632476719 26.6 . . TMEM168 7 112762382 112790592 N . N N -0.635412537 15.78399028 0.013413085 53.7 . . TMEM169 2 216081866 216102783 N . N N -0.315801021 28.52347051 0.011784537 54.3 . . TMEM17 2 62500221 62511894 N . N N 0.165349748 62.17514615 0.004023962 59 . . TMEM170A 16 75443054 75465497 N . N N 0.550880798 82.46802107 0.000303172 68.6 . . TMEM170B 6 11538278 11583524 N . N N 0.007634404 50.08971465 0.674229052 25.4 . . TMEM171 5 73120292 73131817 N . N N 0.786499614 88.89853563 0.000165604 70.4 . . TMEM173 5 139475534 139482935 N . N Y 0.603550251 84.24494993 0.032330621 49.3 FP STING-associated vasculopathy, infantile-onset, 615934 (3) TMEM174 5 73173195 73175143 N . N N 0.662620317 85.99872663 0.015255886 53.1 . . TMEM175 4 932387 958656 N . N N 2.11444115 98.74399491 0.00043963 67.4 . . TMEM176A 7 150800403 150805120 N . N N 0.59126564 83.85715113 0.399810437 32.8 . . TMEM176B 7 150791285 150801360 N . N Y 1.247096088 95.40429473 3.00E-09 90.1 . . TMEM177 2 119679167 119686507 N . N N 0.421560678 76.91728888 0.428469416 32 . . TMEM178A 2 39664982 39717963 N . N N -0.343096194 27.10540024 0.951747716 14.6 . . TMEM178B 7 141074232 141480380 N . N N . . . . . . TMEM179 14 104474678 104605647 N . N N -0.012004394 48.53851942 0.278562205 36.2 . . TMEM179B 11 62787415 62790405 N . N N -0.364648146 26.14458529 0.010781151 54.6 . . TMEM18 2 667335 677439 N . N N 0.155933478 61.44006483 0.053635149 46.6 . . TMEM180 10 102461395 102477045 N . N N -0.857792997 10.41847543 0.000178664 70.2 . . TMEM181 6 158536436 158635428 N . N N -0.078271172 43.79232506 0.468986734 30.9 . . TMEM182 2 102736908 102843893 N . N N 0.198231811 64.27620536 0.015987695 52.8 . . TMEM183A 1 203007386 203024848 N . N N -0.051281473 45.6908028 0.948747425 14.9 . . TMEM184A 7 1542235 1560821 N . N N 1.706120607 97.92209296 8.89E-05 72.2 . . TMEM184C 4 147617383 147672044 N . N N -0.636676166 15.75505007 0.017595035 52.3 . . TMEM185A X 149596556 149631912 N . N Y . . 0.040063074 48.3 . . TMEM185B 2 120221278 120223408 N . N N . . 0.493451137 30.1 . . TMEM186 16 8780384 8797648 N . N N 0.843658882 90.07929617 0.001409854 63.3 . . TMEM187 X 153972327 153983195 N . N N -0.028772452 47.38091104 0.218658492 38.1 DM? . TMEM189 20 50118254 50153734 N . N Y -0.053195214 45.56346588 0.005185006 57.9 . . TMEM189-UBE2V1 20 50081124 50153637 N . N N -0.248273713 32.55773572 0.005185006 57.9 . . TMEM19 12 71686087 71705046 N . N N 0.292094913 70.04688314 0.001380694 63.5 . . TMEM190 19 55376836 55378244 N . N Y 0.164393154 62.10568965 0.060986378 45.9 . . TMEM191B 22 18527802 18530573 N . N N . . . . . . TMEM192 4 165070608 165208549 N . N N -0.233267662 33.50118655 0.004698135 58.4 . . TMEM196 7 19719310 19773598 N . N N 0.116504775 58.48816345 1.50E-05 77 . . TMEM198 2 219543663 219550595 N . N N -0.658073323 15.10678937 0.061248393 45.9 . . TMEM199 17 28357581 28363683 N . N N 0.153213524 61.2432714 0.000653685 66.2 . . TMEM2 9 71683366 71816690 N . N N -1.260688934 5.047172542 1.28E-09 91 DP . TMEM200A 6 130365734 130443063 N . N N -0.157128223 38.22422874 0.835246152 20.5 . . TMEM200B 1 29119428 29123935 N . N N . . 0.155282701 40.4 . . TMEM200C 18 5882072 5895955 N . N N . . . . . . TMEM201 1 9588922 9614873 N . N N -0.21156288 34.83822423 0.841903867 20.2 . . TMEM202 15 72398273 72408029 N . N N 0.311734573 71.17555131 6.16E-07 83.4 . . TMEM203 9 137204082 137205638 N . N N 0.11459153 58.34925045 0.500301666 29.9 . . TMEM204 16 1528688 1555580 N . N Y 0.009699407 50.29229612 0.902171045 17.7 . . TMEM205 19 11342776 11346518 N . N N 0.12592113 59.20588065 0.394574027 32.9 . . TMEM206 1 212363931 212414901 N . N N -0.495874865 20.37969555 8.01E-06 78.6 . . TMEM207 3 190428655 190449876 N . N N 0.914871845 91.3816056 0.000192959 69.9 . . TMEM208 16 67227103 67229278 N . N N -0.305580815 29.14857904 0.424874173 32.2 . . TMEM209 7 130164715 130207770 N . N N -0.080184792 43.61289576 0.005204565 57.9 . . TMEM210 9 137170858 137172409 N . N N . . 0.313442755 35.3 . . TMEM211 22 24935110 24946695 N . N N 0.435463288 77.66394629 0.216382272 38.2 . . TMEM212 3 171843349 171938715 N . N N . . . . . . TMEM213 7 138797952 138838101 N . N N 0.320046263 71.77750767 0.045260468 47.5 . . TMEM214 2 27032910 27041695 N . N N 0.002499372 49.67297563 0.001167355 64.1 . . TMEM215 9 32783499 32787399 N . N N 0.166306355 62.25039069 0.008215827 55.8 . . TMEM216 11 61391687 61398863 N . N N 0.570522981 83.06997743 0.002019295 61.8 DM Joubert syndrome 2, 608091 (3); Meckel syndrome 2, 603194 (3) TMEM217 6 37212180 37258155 N . N N 0.082816117 55.93563697 0.005006027 58.1 . . TMEM218 11 125096545 125111763 N . N N 0.116504775 58.48816345 0.00149019 63 . . TMEM219 16 29940885 29973052 N . N N 0.166306355 62.25039069 0.001035357 64.6 . . TMEM220 17 10699015 10730316 N . N N 0.04897698 53.33680616 2.02E-06 81.3 . . TMEM221 19 17435509 17448567 N . N N . . . . . . TMEM222 1 27322145 27336400 N . N N 0.202865163 64.54245529 0.071986075 44.9 . . TMEM223 11 62771629 62792021 N . N N 0.472023591 79.37720669 0.012435531 54 . . TMEM225 11 123882926 123885642 N . N N 0.613775611 84.56908028 0.541094557 28.9 . . TMEM229A 7 124030916 124033023 N . N N . . . . . . TMEM229B 14 67447084 67533739 N . N N -0.15647662 38.26474504 0.21424997 38.3 . . TMEM230 20 5068232 5113103 N . N N 0.275983486 69.05712797 0.013819609 53.6 . . TMEM232 5 110289233 110738956 N . N N . . . . . . TMEM233 12 119593459 119643066 N . N N . . . . . . TMEM234 1 32214472 32222359 N . N N 0.04243066 52.74063784 0.000523998 66.9 . . TMEM235 17 78231310 78240987 N . N N . . . . . . TMEM236 10 17752252 17800868 N . N N . . . . . . TMEM237 2 201620184 201643570 N . N N 0.198231811 64.27620536 9.40E-10 91.2 DM Joubert syndrome 14, 614424 (3) TMEM238 19 55379245 55384598 N . N N . . . . . . TMEM239 20 2816302 2820284 N . N N . . . . . . TMEM240 1 1535174 1540453 N . N N . . . . . Spinocerebellar ataxia 21, 607454 (3) TMEM241 18 23197144 23437961 N . N N 0.433697636 77.55976153 7.76E-05 72.7 . . TMEM242 6 157289386 157323601 N . N N 0.694401032 86.77432425 0.000194208 69.9 . . TMEM243 7 87196160 87220587 N . N N 0.063983137 54.4886265 1.29E-05 77.4 . . TMEM244 6 129831244 129861547 N . N N 0.579938151 83.45198819 0.037087536 48.7 . . TMEM245 9 109015152 109119945 N . N N -0.668295493 14.80581119 0.000362237 68.1 . . TMEM246 9 101473171 101533537 N . N N -0.002436163 49.25623662 0.278461424 36.2 . . TMEM247 2 46429190 46484425 N . N N . . . . . . TMEM248 7 66921225 66958551 N Viable N Y -0.73230344 13.09255079 0.42273152 32.2 . . TMEM249 8 144352219 144354914 N . N N . . 0.341068399 34.5 . . TMEM25 11 118531041 118547280 N . N N 0.499461757 80.4422064 0.000421369 67.6 . . TMEM251 14 93184951 93187089 N . N N 0.525502816 81.44353765 0.077112 44.6 . . TMEM252 9 68536580 68540867 N . N N 0.149386991 60.95386931 0.003645147 59.5 . . TMEM253 14 21098937 21103724 N . N N . . . . . . TMEM254 10 80078646 80092557 N . N N 0.451425935 78.40481565 0.00506595 58 . . TMEM255A X 120258650 120311556 N . N N 0.143797178 60.51397812 0.469576566 30.9 . . TMEM255B 13 113759240 113816995 N . N Y 1.109302711 94.06146901 3.85E-10 91.9 . . TMEM256 17 7402975 7404137 N Viable N Y 0.069572814 54.86484922 2.95E-05 75.2 . . TMEM256-PLSCR3 17 7389727 7394843 N . N N . . 0.245307294 37.2 . . TMEM257 X 145827410 145829850 N . N N 0.440098343 77.88389188 0.114594791 42.4 . . TMEM258 11 61768501 61792802 N . N N 0.107088402 57.71835388 0.000864646 65.3 . . TMEM259 19 1009648 1021179 N . N N . . 0.899319773 17.8 . . TMEM26 10 61406643 61453450 N . N N -0.53897936 18.62591885 1.73E-07 85.4 . . TMEM260 14 56488354 56650606 N . N N 0.058847615 54.0197951 5.88E-12 94.5 . . TMEM261 9 7796490 7888380 N . N N -0.010090723 48.66585634 0.00077764 65.6 . . TMEM262 11 65084979 65089375 N . N N . . . . . . TMEM263 12 106955719 106978778 N . N N . . . . . . TMEM27 X 15627318 15665031 N . N Y -0.094538075 42.4726515 0.003108045 60.2 . . TMEM30B 14 61277370 61281840 N . N N . . 0.02118173 51.3 . . TMEM30C 3 100185824 100194191 N . N N . . . . . . TMEM31 X 103710909 103714028 N . N N 0.297536667 70.34207328 0.000256766 69.1 FTV . TMEM33 4 41935120 41960572 N . N N -0.175157533 37.05504428 0.229168918 37.7 . . TMEM35 X 101078720 101096364 N . N N 0.099585278 57.16270186 0.648723791 26.1 . . TMEM37 2 119429901 119438520 N . N N 0.393312715 75.5107947 0.041816145 48 . . TMEM38A 19 16661127 16690029 N . N N -0.147863581 38.90142965 0.030760166 49.5 . . TMEM39A 3 119429500 119468830 N . N N -0.615925383 16.32227817 0.979617998 11.8 DP . TMEM39B 1 32072031 32102866 N . N N -0.031491274 47.21884586 0.021450432 51.3 . . TMEM40 3 12733525 12769457 N . N N 0.008742604 50.21705157 0.000135844 71 . . TMEM41A 3 185476496 185499057 N . N N 0.18977215 63.74949355 0.002246609 61.5 . . TMEM41B 11 9280654 9314780 N . N N 0.172852824 62.72501013 0.020189931 51.6 . . TMEM42 3 44861869 44865670 N . N N 0.373525026 74.60207212 0.306977503 35.6 . . TMEM43 3 14124940 14143679 N Viable N Y 1.263207838 95.52005557 9.85E-08 86.1 DM Arrhythmogenic right ventricular dysplasia 5, 604400 (3); Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3) TMEM44 3 194587673 194633689 N . N N 0.367125811 74.23163744 1.19E-06 82.3 . . TMEM45A 3 100492619 100577444 N . N N -0.160151469 38.02743532 0.010183625 54.8 . . TMEM45B 11 129815819 129860003 N . N N 0.260169485 68.0384326 8.87E-07 82.7 . . TMEM47 X 34627064 34657288 N . N N -0.007371823 48.85686172 0.641023924 26.3 . . TMEM5 12 63779803 63809558 N . N N -0.017442134 48.06968802 1.85E-06 81.4 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) TMEM50A 1 25337917 25362361 N . N N 0.396990911 75.66707183 0.333486481 34.8 . . TMEM50B 21 33432485 33480011 N . N N 0.192492475 63.9636511 0.298982341 35.8 . . TMEM51 1 15152532 15220480 N . N N 0.366169324 74.15639289 0.870759443 19 . . TMEM52 1 1917590 1919273 N . N N 0.217871355 65.53221045 0.328693114 34.9 . . TMEM52B 12 10170542 10191801 N . N N 0.672846598 86.25918852 0.040180498 48.3 . . TMEM53 1 44635238 44674555 N . N N 0.35116309 73.45025178 0.038975168 48.5 . . TMEM54 1 32894594 32901438 N . N N 0.353884195 73.67019737 0.164454121 40 . . TMEM55A 8 90993796 91041064 N . N N -0.258648061 31.95577936 0.021990365 51.2 . . TMEM55B 14 20457719 20461612 N . N N 0.043387416 52.82745847 0.80039951 21.7 . . TMEM56 1 95117338 95197607 N . N N -0.304623579 29.21803554 0.338393703 34.6 . . TMEM56-RWDD3 1 95117923 95247225 N . N N -0.049519725 45.82392777 . . . . TMEM57 1 25430858 25500209 N . N N -0.932980272 8.971464953 0.992504411 9.3 . . TMEM59 1 54026681 54053504 N . N N -0.081293491 43.49713492 2.23E-07 85 . . TMEM59L 19 18607430 18621039 N . N N 0.267672556 68.5362042 0.015100786 53.1 . . TMEM60 7 77793728 77798580 N . N N 0.267523946 68.51884008 0.661431576 25.7 . . TMEM61 1 54980792 54992293 N . N N 0.311734573 71.17555131 0.004375773 58.7 . . TMEM62 15 43123279 43185146 N . N N -0.035166968 46.92944377 5.99E-08 86.7 . . TMEM63A 1 225845536 225882369 N . N N 0.007283443 50.04919836 6.11E-05 73.4 . . TMEM63C 14 77116568 77259495 N . N N -0.104455956 41.84175493 0.988496792 10.3 . . TMEM64 8 90621995 90791632 N . N N . . 0.157412876 40.3 . . TMEM65 8 124306189 124372692 N . N N 0.062069705 54.29762111 0.594652549 27.6 . . TMEM68 8 55696424 55773407 N . N Y -0.040102903 46.61110146 0.01693697 52.5 . . TMEM69 1 45687214 45694443 N . N N 0.058393523 53.97927881 0.000261683 69 . . TMEM70 8 73972437 73982783 N . N N 0.569711937 83.03524918 0.003240983 60 DM Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) TMEM71 8 132685007 132760712 N . N N 0.868081708 90.53076344 4.17E-10 91.9 . . TMEM72 10 44911200 44937002 N . N N 0.373672448 74.62522429 0.49453097 30.1 . . TMEM74 8 108606850 108787615 N . N N -0.163826529 37.7901256 0.000331226 68.4 . . TMEM74B 20 1180561 1185415 N . N N 0.239573531 66.85188401 0.001473822 63.1 . . TMEM78 1 229249636 229251810 N . N N . . . . . . TMEM79 1 156282935 156293185 N . N Y 1.528727202 97.08282688 3.50E-07 84.3 . . TMEM80 11 695428 705028 N . N N . . 4.91E-05 73.9 . . TMEM81 1 205083129 205084460 N . N N 0.501226419 80.48272269 0.000222029 69.5 . . TMEM82 1 15742422 15747982 N . N N 0.748026206 88.05926955 1.23E-05 77.5 . . TMEM86A 11 18693122 18704785 N . N N -0.068201255 44.52161834 0.032960138 49.2 . . TMEM86B 19 55226639 55229264 N . N N 1.061266122 93.50581698 2.76E-05 75.4 . . TMEM87A 15 42210452 42273663 N . N N -0.657116328 15.15309371 0.785702662 22.1 . . TMEM87B 2 112055223 112119318 N . N N -0.497635687 20.31602709 7.98E-08 86.4 . . TMEM88 17 7855065 7856099 N . N N 0.536830287 81.94130926 0.353473968 34.1 . . TMEM88B 1 1426128 1427787 N . N N . . . . . . TMEM89 3 48620759 48621855 N . N N 0.871761308 90.62337211 0.711075965 24.3 . . TMEM8A 16 370773 387113 N . N N 0.700756193 86.91323725 0.000118507 71.4 DM? . TMEM8B 9 35814451 35854847 N . N N -0.414144703 23.73097181 0.001307689 63.7 . . TMEM9 1 201134772 201171574 N . N N -0.041059779 46.53585692 0.298539882 35.8 DP . TMEM91 19 41350911 41384083 N . N N 0.23383407 66.45250912 0.422100728 32.2 . . TMEM92 17 50271406 50281485 N . N N -0.033556726 47.03941657 0.129143042 41.6 . . TMEM95 17 7355123 7357219 N . N N 0.44583509 78.14435377 0.00145965 63.1 . . TMEM97 17 28319095 28328685 N Viable N Y 0.164393154 62.10568965 0.028406015 50 . . TMEM99 17 40819106 40836274 N . N N 0.008742604 50.21705157 3.15E-05 75.1 . . TMEM9B 11 8947294 8965011 N . N N -0.11145818 41.38449962 0.911174543 17.2 . . TMF1 3 69019827 69052303 N . N Y -0.652995945 15.28621867 2.84E-06 80.6 . . TMIE 3 46701333 46710886 N . N N 0.344468409 73.11454535 0.000366606 68 DM Deafness, autosomal recessive 6, 600971 (3) TMIGD1 17 30316333 30334059 N . N N 0.008742604 50.21705157 0.104144558 42.9 . . TMIGD2 19 4292232 4302431 N . N N 1.309041113 95.855762 0.01525187 53.1 . . TMIGD3 1 111483348 111563962 N . N N . . . . . . TMLHE X 155490115 155669944 N . N N 0.067810037 54.72014817 0.00276292 60.7 DM Epsilon-trimethyllysine hydroxylase deficiency, 300872 (3) TMOD2 15 51751561 51816368 N . N Y -0.587827164 17.15575621 0.138407691 41.2 . . TMOD4 1 151169986 151176284 N . N N 0.641066664 85.39098223 1.33E-07 85.8 . . TMPO 12 98515512 98550379 N . N Y 0.353533797 73.61231695 0.000659536 66.2 DM ?Cardiomyopathy, dilated, 1T, 613740 (3) TMPPE 3 33090421 33096801 N . N N -0.218108998 34.42727325 4.86E-05 74 . . TMPRSS11A 4 67909385 67964140 N . N Y 0.568903575 83.02367309 9.57E-11 93 DP . TMPRSS11B 4 68226653 68245720 N . N N 0.318430612 71.66753487 1.68E-11 94 . . TMPRSS11D 4 67820876 67884032 N . N N -0.425475634 23.3142328 0.06251897 45.7 . . TMPRSS11E 4 68447449 68497604 N . N N -0.387960287 25.05064537 3.75E-05 74.6 . . TMPRSS11F 4 68053198 68129880 N . N N 0.515424669 81.09625514 4.98E-07 83.8 . . TMPRSS12 12 50842920 50887884 N . N N 0.977768569 92.44660531 0.003116275 60.2 FTV . TMPRSS13 11 117900643 117929459 N . N Y 0.891697353 90.98801875 6.09E-05 73.4 . . TMPRSS15 21 18269116 18485879 N . N Y 0.753279702 88.15766626 1.29E-18 98.4 DM . TMPRSS2 21 41464551 41531116 N . N Y -0.324913589 28.02569891 0.062064328 45.8 . . TMPRSS3 21 42371890 42396846 N . N Y 0.635626645 85.2347051 4.03E-05 74.5 DM Deafness, autosomal recessive 8/10, 601072 (3) TMPRSS4 11 118077012 118121890 N . N N 0.108346305 57.8862071 1.20E-08 88.7 DM . TMPRSS5 11 113687550 113706373 N . N N . . 2.58E-08 87.9 DM . TMPRSS7 3 112034843 112081269 N . N N 1.549480736 97.23910401 6.09E-15 96.8 . . TMPRSS9 19 2389771 2426239 N . N N 1.806316354 98.19991897 1.77E-18 98.3 . . TMSB10 2 84905625 84906675 N . N N 0.120181475 58.72547317 0.124315434 41.9 . . TMSB15A X 102513676 102516784 N . N N 0.112678313 58.18139723 0.482094888 30.5 . . TMSB15B X 103918896 103966712 N . N N 0.135187809 59.83677722 0.48187122 30.5 . . TMSB4Y Y 13703567 13706024 N . N N . . 0.334409877 34.8 . . TMTC1 12 29500840 29784759 N . N N 0.096362593 56.8501476 3.06E-07 84.5 . . TMTC2 12 82686880 83134870 N . N N -0.455186963 22.07559183 0.863100806 19.4 . . TMTC4 13 100603927 100675093 N . N N -0.846318438 10.64999711 3.91E-06 80 . . TMUB1 7 151081080 151083546 N . N Y 0.051847216 53.50465937 0.314893201 35.3 . . TMUB2 17 44186970 44191731 N . N N -0.350445024 26.76390577 0.001301139 63.7 . . TMX1 14 51240162 51257546 N . N N -0.656313373 15.18203392 0.00332854 59.9 . . TMX2 11 57712600 57740973 N . N N 0.139164133 60.1377554 0.429913785 32 . . TMX2-CTNND1 11 57712605 57791586 N . N N . . . . . . TMX3 18 68673688 68715298 N . N N 0.09510276 56.80384326 0.191322508 38.9 . . TMX4 20 7977348 8019829 N . N N 0.099735608 57.19164207 0.010662181 54.7 . . TNC 9 115019578 115118257 N . N Y 0.97893651 92.47554552 1.45E-05 77.1 DM Deafness, autosomal dominant 56, 615629 (3) TNF 6 31575567 31578336 N . N Y -0.047605945 46.02072119 0.27282919 36.4 DFP {Malaria, cerebral, susceptibility to}, 611162 (3); {Septic shock, susceptibility to} (3); {Asthma, susceptibility to}, 600807 (3); {Dementia, vascular, susceptibility to} (3); {Migraine without aura, susceptibility to}, 157300 (3) TNFAIP1 17 28335602 28347009 N . N Y -0.050324612 45.75447126 0.007361605 56.4 . . TNFAIP2 14 103123442 103137439 N . N N -0.245402639 32.7487411 0.002678208 60.8 FP . TNFAIP6 2 151357592 151380048 N . N Y 0.530283168 81.66927129 4.02E-06 80 . . TNFAIP8 5 119268692 119399688 N . N N -0.042016662 46.43167217 0.239737017 37.4 DFP . TNFAIP8L1 19 4639518 4655568 N . N N . . 0.463548117 31.1 . . TNFAIP8L2 1 151156629 151159749 N . N Y -0.047605945 46.02072119 0.504728365 29.8 . . TNFAIP8L3 15 51056598 51105276 N . N N 0.592221803 83.88030329 2.33E-06 81 . . TNFRSF10A 8 23190452 23225126 N . N N 0.458269625 78.73473404 3.93E-13 95.6 DFP . TNFRSF10B 8 23020133 23069179 N . N Y 0.55676724 82.68796666 9.80E-07 82.6 DM Squamous cell carcinoma, head and neck, 275355 (3) TNFRSF10C 8 23084355 23117437 N . N N 0.329610306 72.28106731 1.32E-07 85.8 . . TNFRSF10D 8 23135588 23164030 N . N N 2.178962948 98.83660358 3.28E-05 75 . . TNFRSF11A 18 62325287 62391292 N . N Y -0.036123783 46.87156335 0.879917354 18.6 DM Osteolysis, familial expansile, 174810 (3); {Paget disease of bone 2, early-onset}, 602080 (3); Osteopetrosis, autosomal recessive 7, 612301 (3) TNFRSF12A 16 3018445 3022383 N . N Y 0.306952505 70.86878509 0.036421307 48.8 . . TNFRSF13B 17 16929816 16972118 N . N Y 0.902877564 91.13850784 6.72E-13 95.4 DM Immunoglobulin A deficiency 2, 609529 (3); Immunodeficiency, common variable, 2, 240500 (3) TNFRSF13C 22 41922023 41926818 N . N Y 0.145560638 60.65289113 0.641054688 26.3 DM Immunodeficiency, common variable, 4, 613494 (3) TNFRSF14 1 2555639 2565382 N . N Y -0.033404934 47.05678069 0.819999054 21 DP . TNFRSF17 16 11965107 11968068 N . N Y 0.364256447 74.10430052 0.003104419 60.2 . . TNFRSF18 1 1203508 1206691 N Viable N Y 1.08568913 93.79521908 8.37E-07 82.8 . . TNFRSF19 13 23570370 23676104 N . N Y -0.186183329 36.3952075 0.019882513 51.7 . . TNFRSF1A 12 6328757 6342114 N . N Y 0.00315321 49.71927997 0.985476047 10.9 DM Periodic fever, familial, 142680 (3); {Multiple sclerosis, susceptibility to, 5}, 614810 (3) TNFRSF1B 1 12167003 12209228 N . N Y 0.249946566 67.45384037 0.778880984 22.3 DFP . TNFRSF21 6 47231532 47309905 N . N Y -0.760248704 12.39219772 0.656653056 25.9 . . TNFRSF25 1 6461151 6466195 N . N Y -0.11785159 40.91566823 0.448738853 31.4 DP . TNFRSF4 1 1211326 1214138 N . N Y 0.65129239 85.65144412 0.00720933 56.5 DP ?Immunodeficiency 16, 615593 (3) TNFRSF6B 20 63696668 63698684 N . N N 0.766858833 88.48179661 4.83E-05 74 DM . TNFRSF8 1 12063377 12144207 N . N Y 0.000585754 49.48197025 0.845965387 20.1 . . TNFSF10 3 172505508 172523507 N . N Y 0.213237933 65.26017248 0.405364744 32.6 DFP . TNFSF11 13 42562736 42608013 N . N Y -0.007220243 48.88580193 0.130191547 41.6 DM Osteopetrosis, autosomal recessive 2, 259710 (3) TNFSF12 17 7548891 7557890 N . N Y -0.283071606 30.49140476 0.997954015 7 DM . TNFSF12-TNFSF13 17 7549099 7561601 N . N N -0.053195214 45.56346588 0.997954015 7 . . TNFSF13 17 7558292 7561608 N . N Y 0.278852726 69.23076923 0.877768013 18.7 DP . TNFSF13B 13 108251240 108308484 N . N Y -0.245556279 32.71401285 0.954794121 14.3 DFP . TNFSF14 19 6661253 6670588 N . N Y 0.296728366 70.30734503 0.813514843 21.2 DFP . TNFSF15 9 114784635 114806126 N . N Y -0.000674037 49.38936158 0.364139466 33.8 DFP . TNFSF18 1 173039960 173050963 N . N N 0.23383407 66.45250912 0.000468356 67.2 DM? . TNFSF4 1 173183734 173207313 N . N Y -0.034513598 46.96996006 0.125230007 41.8 DFP {Myocardial infarction, susceptibility to}, 608446 (3) TNFSF8 9 114893343 114930595 N . N Y 0.044344174 52.90849106 0.852776651 19.8 DM . TNFSF9 19 6530999 6535928 N . N Y 0.385809542 75.19824044 0.096826856 43.4 . . TNIK 3 171061339 171460408 N . N Y -1.563171534 2.980841581 0.997185846 7.4 . . TNIP2 4 2741648 2756376 N . N Y 0.273412356 68.86612259 2.97E-06 80.6 . . TNIP3 4 121131408 121227466 N . N N 0.200145052 64.3919662 0.324695186 35 . . TNK1 17 7380534 7389774 N . N Y 0.685278874 86.54280257 8.55E-05 72.3 . . TNK2 3 195863364 195911945 N . N N 0.553729211 82.56641778 1.21E-10 92.8 . . TNKS 8 9555914 9782346 N . N Y -3.252272376 0.480407478 0.777115954 22.4 DM? . TNKS1BP1 11 57299638 57324952 N . N N 0.733381531 87.6656827 0.02971088 49.7 . . TNMD X 100584802 100599885 N . N Y 0.058393523 53.97927881 0.816440949 21.1 . . TNN 1 175067858 175148066 N . N N 1.052025286 93.3842681 5.19E-15 96.8 . . TNNC1 3 52451102 52454070 N . N N -0.232464529 33.55327893 0.510486368 29.7 DM Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic, 13, 613243 (3) TNNC2 20 45823214 45833745 N . N N -0.148973548 38.82039706 0.547150267 28.7 . . TNNI1 1 201403768 201429866 N . N N 0.224417956 65.88528101 0.120125045 42.1 . . TNNI2 11 1838989 1841680 N . N N -0.357145068 26.46871563 0.086152741 44 DM Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3) TNNI3K 1 74235401 74544428 N . N N -0.228987981 33.77901256 1.80E-38 99.9 FTV ?Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3) TNNT1 19 55132794 55149354 N . N N 0.031251654 51.92452393 3.23E-06 80.4 DM Nemaline myopathy 5, Amish type, 605355 (3) TNP1 2 216859458 216860064 N . N Y 0.129597795 59.37952191 0.222164609 37.9 DM? . TNP2 16 11267748 11269533 N . N Y 1.279839116 95.6358164 0.04397134 47.7 . . TNPO1 5 72816312 72916733 N . N N -1.022065824 7.588122938 0.999998701 1.8 . . TNPO2 19 12699194 12724011 N . N N -0.921648201 9.191410546 0.999885944 3.9 DM? . TNR 1 175315194 175743770 N . N Y -0.225825483 33.9642299 0.987762732 10.5 DM . TNRC18 7 5306790 5425414 N . N N . . 0.999973966 3 . . TNRC6B 22 40044817 40335808 N . N N -1.586263975 2.888232911 0.999999803 1.2 . . TNRC6C 17 78004168 78108835 N . N N -1.497152949 3.374428431 0.999997824 2 . . TNS1 2 217799789 218002995 N . N Y 1.30026116 95.79788158 0.924939889 16.4 . . TNS2 12 53046969 53064372 N . N Y . . . . . . TNS4 17 40475828 40501597 N . N N -0.071573715 44.31324883 0.000130733 71.1 . . TNXB 6 32041154 32115334 N . N Y . . 0.774153752 22.5 DM Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3); Vesicoureteral reflux 8, 615963 (3) TOB1 17 50862223 50867978 N . N Y -0.081293491 43.49713492 0.798204384 21.7 . . TOB2 22 41433492 41447023 N . N Y 0.177635945 63.02598831 0.703190337 24.5 . . TOE1 1 45339670 45343975 N . N N 0.55676724 82.68796666 6.59E-09 89.3 . . TOLLIP 11 1274371 1309654 N . N Y 0.707640477 87.06951438 0.522906268 29.4 . . TOM1 22 35299275 35347994 N . N N 0.056782277 53.85194189 6.78E-06 79 . . TOM1L1 17 54899387 54961956 N . N N -0.592458629 16.93581062 0.002934147 60.4 . . TOM1L2 17 17843511 17972422 N . N N -0.555747173 18.05869074 0.414475508 32.4 . . TOMM20 1 235109336 235128936 N . N N -0.089905929 42.77941772 0.577780758 28 . . TOMM20L 14 58395916 58408701 N Viable N Y 0.169983117 62.51085258 0.000787655 65.6 . . TOMM22 22 38681948 38685421 N . N N -0.020464318 47.86710656 0.78583296 22.1 . . TOMM34 20 44942130 44960486 N . N Y -0.290574674 29.99363315 0.721089133 24 . . TOMM40 19 44890569 44903689 N . N N -0.159194457 38.09110378 0.963682324 13.6 DP . TOMM40L 1 161225939 161230744 N . N N 0.023748636 51.34571974 0.744035828 23.3 . . TOMM6 6 41787662 41789898 N . N N . . . . . . TOMM7 7 22812628 22822852 N . N N 0.25810805 67.9284598 0.054735298 46.5 . . TOMM70A 3 100363431 100401398 N . N N -0.510881113 19.77773919 0.998235566 6.7 . . TONSL 8 144428775 144444444 N . N N 1.060308675 93.47687677 6.06E-05 73.4 . . TOP1MT 8 143304384 143359979 N . N Y 1.206206162 95.06280025 1.63E-19 98.5 DP . TOP2A 17 40388516 40417950 N . N N -0.862281415 10.34323088 0.996224029 7.9 . DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) TOP3B 22 21957025 21982816 N . N Y -0.790114004 11.74972507 0.114528013 42.4 DM? . TOPAZ1 3 44241886 44332098 N . N N . . . . . . TOPORS 9 32540544 32552553 N . N N -1.058334419 7.101927418 0.975842587 12.3 DM Retinitis pigmentosa 31, 609923 (3) TOR1AIP2 1 179839967 179877803 N . N N -0.114024046 41.20507032 4.04E-05 74.5 . . TOR1B 9 129803153 129811281 N . N N -0.397377504 24.54708572 0.743694124 23.3 . . TOR2A 9 127731524 127735317 N . N N 0.019116005 51.00422527 0.056747579 46.3 . . TOR3A 1 179081377 179098023 N . N N 0.48445544 79.89234242 2.47E-08 87.9 . . TOR4A 9 137277749 137282641 N . N N . . 0.215534136 38.3 . . TOX 8 58805418 59119208 N . N Y 0.607376276 84.3780749 0.892971025 18.1 DP . TOX2 20 43914864 44069616 N . N N 0.006175108 49.97395381 0.674075157 25.4 . . TOX4 14 21476597 21499175 N . N N 0.000434265 49.47039417 0.81196579 21.2 . . TP53AIP1 11 128934731 128943399 N . N N 0.654972172 85.79035712 9.47E-07 82.6 DP . TP53BP1 15 43403061 43510728 N . N Y -0.696656943 14.04178966 0.999855964 4.1 DP . TP53I11 11 44885903 44951306 N . N N -0.246513473 32.65613243 0.067174271 45.3 . . TP53I13 17 29566052 29573157 N . N N 0.960037204 92.19771951 0.062734293 45.7 . . TP53I3 2 24077433 24085861 N . N N 0.184182333 63.46587949 3.76E-07 84.2 DFP . TP53INP1 8 94925972 94949411 N . N Y -0.076661182 43.91387394 6.86E-05 73 . . TP53INP2 20 34704290 34713439 N . N N 0.38485322 75.1519361 0.34145439 34.5 . . TP53RK 20 46684365 46689779 N . N N 0.465476352 79.10516872 0.349270746 34.2 FTV . TP53TG3 16 32673528 32676732 N . N N . . . . . . TP53TG3B 16 33360274 33363478 N . N N . . . . . . TP53TG3C 16 33193659 33306938 N . N N . . . . . . TP53TG3D 16 32252719 32255922 N . N N . . 0.641056796 26.3 . . TP53TG5 20 45372563 45407889 N . N N 0.860578167 90.38027435 3.30E-06 80.4 . . TPBG 6 82363206 82370828 N . N Y -0.159998829 38.04479944 0.12323426 42 . . TPBGL 11 75240905 75243697 N . N N . . . . . . TPCN1 12 113221050 113298585 N . N Y -1.438320869 3.739075071 0.003858916 59.2 . . TPCN2 11 69048897 69090604 N Viable N Y 0.585173525 83.68929791 2.06E-06 81.3 DP [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) TPD52 8 80034745 80231232 N . N N 0.112828307 58.21033744 0.005112083 58 . . TPD52L1 6 125119049 125264407 N . N N 0.110914976 58.05984835 0.008420056 55.7 . . TPD52L2 20 63865228 63891545 N . N Y -0.039146033 46.66319384 0.595604698 27.5 . . TPD52L3 9 6328375 6331900 N . N N 0.339834225 72.85987151 0.163388307 40 . . TPGS1 19 507497 519654 N . N N . . 0.003467495 59.8 . . TPGS2 18 36777647 36829216 N Viable N Y -0.26232271 31.69531747 0.000133032 71.1 . . TPH1 11 18017564 18042426 N . N Y -0.138446759 39.5439023 2.67E-05 75.5 DM . TPK1 7 144451941 144836395 N . N N -0.334635847 27.50477513 0.028254579 50 DM Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) TPM2 9 35681992 35691020 N . N N -0.546637823 18.31915263 4.59E-05 74.1 DM Arthrogryposis multiplex congenita, distal, type 1, 108120 (3); Arthrogryposis, distal, type 2B, 601680 (3); Nemaline myopathy 4, autosomal dominant, 609285 (3); CAP myopathy 2, 609285 (3) TPM4 19 16067021 16103005 N . N N -0.122636306 40.5799618 0.109402017 42.6 . . TPMT 6 18128311 18155074 N . N Y 0.439288148 77.85495167 7.57E-05 72.7 DM 6-mercaptopurine sensitivity, 610460 (3) TPO 2 1374223 1543711 N . N N -0.096651892 42.30479829 1.36E-07 85.7 DM Thrombocythemia 1, 187950 (3) TPP1 11 6612763 6619461 N . N Y 0.634669724 85.19418881 0.025756063 50.4 DM Ceroid lipofuscinosis, neuronal, 2, 204500 (3); Spinocerebellar ataxia, autosomal recessive 7, 609270 (3) TPP2 13 102597003 102679958 N . N Y -1.226289002 5.342362679 0.999863189 4 FP . TPPP 5 659862 693395 N Viable N Y -0.066287483 44.66631938 0.447860539 31.4 DM? . TPPP2 14 21024109 21036276 N . N N 0.854842552 90.28766568 0.017186617 52.4 . . TPPP3 16 67389809 67393535 N . N N 0.073399639 55.17740348 0.311517277 35.4 . . TPR 1 186311652 186375693 N . N N -2.68415692 0.810325867 1 0.3 . . TPRA1 3 127573069 127598251 N . N N 0.559487267 82.75163512 0.05835802 46.2 . . TPRG1 3 188947214 189325304 N . N N -0.065330609 44.75314001 4.88E-05 74 . . TPRG1L 1 3625002 3630127 N . N N -0.075704275 43.9775424 0.002845285 60.6 . . TPRKB 2 73729104 73737400 N . N N 0.072442927 55.09058286 0.020618027 51.5 . . TPRN 9 137191617 137204193 N Viable N Y . . . . DM Deafness, autosomal recessive 79, 613307 (3) TPRX1 19 47801243 47819051 N . N N 0.652248451 85.69774845 0.000613268 66.4 . . TPRXL 3 13937256 14082811 N . N N . . . . . . TPSAB1 16 1240696 1242554 N . N N 1.39909238 96.37668577 4.56E-05 74.2 . . TPSB2 16 1227272 1230184 N . N Y . . 2.35E-08 88 FP . TPSD1 16 1256059 1258998 N . N N 2.057911328 98.65138624 8.52E-09 89.1 . . TPSG1 16 1221651 1225257 N . N N 1.155282343 94.55924061 4.09E-06 79.9 . . TPST1 7 66205199 66420543 N . N Y -0.672277284 14.70741448 0.011481102 54.3 . . TPST2 22 26521983 26596717 N . N Y -0.515512873 19.61567402 0.599488923 27.5 . . TPTE 21 10521553 10606140 N . N N 4.476720666 99.8205707 5.11E-31 99.7 FTV . TPTE2 13 19422877 19536762 N . N N 1.341119693 96.05834346 3.69E-08 87.4 . . TRA2A 7 23504780 23532041 N . N N -0.349641992 26.83336227 0.212371727 38.4 DM? . TRABD 22 50185915 50199598 N . N N -0.499549597 20.20605429 0.931187269 16.1 . . TRABD2A 2 84821650 84907008 N . N N 0.697415576 86.86114487 7.94E-10 91.3 . . TRABD2B 1 47760528 47996895 N . N N . . 0.370916244 33.6 . . TRADD 16 67154180 67160298 N . N Y -0.094538075 42.4726515 0.680264799 25.2 DM? . TRAF1 9 120902393 120929173 N . N Y 0.400964456 75.88701742 0.056744289 46.3 . . TRAF3IP2 6 111556454 111606278 N . N Y 0.570816875 83.10470568 7.11E-05 72.9 DFP {Psoriasis susceptibility 13}, 614070 (3); ?Candidiasis, familial, 8, 615527 (3) TRAF3IP3 1 209756032 209782320 N . N Y 0.123352267 59.00329918 1.38E-06 82.1 . . TRAF5 1 211326615 211374946 N . N Y 0.519251431 81.23516814 8.83E-06 78.4 . . TRAF7 16 2155698 2178129 N . N N -1.198328825 5.602824564 0.460647228 31.1 DM? . TRAFD1 12 112125501 112153609 N . N Y -0.215238485 34.57776234 1.83E-05 76.5 . . TRAK1 3 42013802 42225889 N . N N -0.465126155 21.65885281 9.71E-05 72 . . TRAK2 2 201377207 201451611 N . N N -0.301298369 29.38010071 6.92E-10 91.4 DP . TRAM1 8 70573442 70608387 N . N N -0.40679489 24.07246628 0.676696974 25.3 . . TRAM1L1 4 117083554 117085576 N . N N -0.511838334 19.74301094 0.030231447 49.6 . . TRANK1 3 36826820 36945057 N . N N -3.438164245 0.405162933 2.79E-10 92.2 . . TRAP1 16 3651639 3717597 N . N N 1.021655727 93.06013776 1.62E-17 98 . . TRAPPC1 17 7930345 7932123 N . N N -0.08048891 43.56080338 0.227722385 37.8 . . TRAPPC10 21 44012319 44106552 N Viable N Y -0.849862609 10.54581235 0.999998954 1.7 . . TRAPPC11 4 183659267 183713594 N . N N -1.318115242 4.589917231 0.000208772 69.7 DM Muscular dystrophy, limb-girdle, type 2S, 615356 (3) TRAPPC12 2 3379675 3485094 N . N N -0.46269015 21.76303756 1.34E-09 90.9 . . TRAPPC13 5 65624716 65666233 N . N N -0.084164209 43.24824912 0.765500289 22.7 . . TRAPPC2 X 13712244 13734635 N . N N . . 0.624929856 26.8 DM Spondyloepiphyseal dysplasia tarda, 313400 (3) TRAPPC2B 19 57363511 57365353 N . N N . . . . . . TRAPPC2L 16 88856220 88862686 N . N N 0.187858986 63.66846096 3.55E-05 74.8 . . TRAPPC3 1 36136570 36156053 N . N N 0.055523327 53.73618105 0.81053922 21.3 . . TRAPPC3L 6 116494989 116545610 N . N N . . . . . . TRAPPC4 11 119018432 119025454 N . N N -0.31116943 28.88232911 0.001323696 63.6 . . TRAPPC5 19 7680843 7687703 N . N N 0.297536667 70.34207328 0.577704359 28 . . TRAPPC6A 19 45162928 45178237 N . N N 0.695356886 86.79168837 0.000705278 65.9 . . TRAPPC6B 14 39147811 39170532 N . N N -0.230550154 33.7153441 0.021980278 51.2 . . TRAPPC8 18 31829173 31953136 N . N N -1.284156203 4.815650865 0.999999744 1.3 . . TRAPPC9 8 139730343 140458579 N . N N -0.469903978 21.43311918 5.76E-06 79.3 DM Mental retardation, autosomal recessive 13, 613192 (3) TRAT1 3 108822698 108855005 N . N Y 0.620322894 84.75429762 0.486401717 30.4 . . TRDMT1 10 17142254 17202054 N . N Y -0.023988294 47.67610117 1.67E-06 81.7 . . TRDN 6 123216339 123637093 N . N Y . . 1.82E-10 92.6 DM Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) TREH 11 118657316 118679690 N . N Y . . 1.40E-14 96.6 FP Trehalase deficiency, 612119 (1) TREM1 6 41267926 41286719 N . N Y 0.228244069 66.13416681 0.000343966 68.2 . . TREM2 6 41158506 41163186 N . N Y 0.965628686 92.24402385 2.35E-08 88 DM Nasu-Hakola disease, 221770 (3) TREML1 6 41149342 41154337 N Viable N Y 0.420604183 76.84204434 1.00E-05 78 . . TREML2 6 41190277 41201194 N . N N 1.391588024 96.3535336 1.29E-07 85.8 . . TREML4 6 41228324 41238882 N . N N 0.455250847 78.5495167 2.78E-05 75.4 . . TRERF1 6 42224931 42452051 N . N N -0.090912154 42.73311339 0.999595777 4.9 DP . TREX1 3 48465046 48467645 N . N Y -0.552071566 18.15129942 0.093340719 43.6 DM Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3); Chilblain lupus, 610448 (3); Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3) TREX2 X 153444720 153470587 N . N Y . . 0.126734816 41.7 DM? . TRH 3 129974305 129977938 N . N Y 0.34365998 73.06824101 0.010806915 54.6 . Thyrotropin-releasing hormone deficiency, 275120 (1) TRHDE 12 72087266 72670757 N . N N -1.483488443 3.449672976 0.080996509 44.4 . . TRHR 8 109086621 109119584 N . N Y -0.2707828 31.23227412 0.265021781 36.6 DM Thyrotropin-releasing hormone resistance, generalized (3) TRIAP1 12 120443961 120446412 N . N N 0.167113525 62.29669503 0.590216384 27.7 . . TRIB1 8 125430321 125438405 N . N Y -0.23518181 33.35069746 0.606587657 27.3 DP . TRIB2 2 12716889 12742734 N . N Y -0.316758145 28.47137813 0.926787339 16.3 . . TRIB3 20 362835 397559 N . N Y 0.882280274 90.76807316 2.12E-10 92.4 DFP . TRIL 7 28953358 28958292 N . N N . . . . FTV . TRIM10 6 30151945 30160934 N . N N 0.605613802 84.32598252 9.95E-06 78.1 . . TRIM11 1 228393673 228406840 N . N N -0.312929834 28.70868785 0.547146513 28.7 . . TRIM13 13 49995888 50020481 N . N N -0.267911686 31.37118713 0.505141848 29.8 . . TRIM14 9 98069275 98119212 N . N N -0.064373744 44.83996064 0.010213118 54.8 . . TRIM15 6 30163206 30172696 N . N N 0.528517954 81.59981478 2.18E-11 93.8 . . TRIM16 17 15627960 15684311 N . N N 0.733169122 87.65989466 0.000114779 71.4 . . TRIM16L 17 18697998 18736118 N . N N 0.991964346 92.67233895 0.016879392 52.5 . . TRIM17 1 228407940 228416861 N . N N -0.204865148 35.18550674 2.40E-05 75.8 DM? . TRIM2 4 153152342 153339320 N . N N -1.503279718 3.351276263 0.894263856 18 DM Charcot-Marie-Tooth disease, type 2R, 615490 (3) TRIM21 11 4384897 4393696 N . N Y 0.01735382 50.85373618 0.093051815 43.6 DP . TRIM22 11 5689689 5737089 N . N N 1.164699834 94.68657753 3.16E-12 94.8 DP . TRIM23 5 65589680 65625975 N . N N -1.076505966 6.841465532 0.066967184 45.3 . . TRIM24 7 138460334 138589993 N . N Y -0.574430068 17.52040285 0.999995048 2.2 . . TRIM25 17 56887909 56914038 N . N Y -0.049216095 45.88759623 0.135290442 41.3 . . TRIM26 6 30184455 30213427 N . N N -0.031491274 47.21884586 0.829653548 20.6 . . TRIM27 6 28903002 28923989 N . N Y -0.460273767 21.90195057 0.878751858 18.7 . . TRIM29 11 120111275 120185529 N Viable N Y 0.305489774 70.82248075 9.17E-05 72.1 . . TRIM3 11 6448613 6474459 N . N Y -1.100778721 6.563639521 0.952560875 14.5 . . TRIM31 6 30102897 30113106 N . N N 1.082965441 93.77785495 0.016388134 52.7 . . TRIM32 9 116687302 116701300 N . N Y -0.863383269 10.30850263 0.097317644 43.3 DM Muscular dystrophy, limb-girdle, type 2H, 254110 (3); ?Bardet-Biedl syndrome 11, 615988 (3) TRIM34 11 5619764 5644398 N . N N 0.35035623 73.38079528 0.00020889 69.7 . . TRIM35 8 27284887 27311319 N . N N 0.264147024 68.34519882 0.000940308 65 . . TRIM36 5 115124762 115180546 N . N N -0.258192801 31.99050761 0.00067573 66.1 . . TRIM37 17 58982638 59106921 N . N N -1.32016144 4.560977021 0.172389368 39.6 DM Mulibrey nanism, 253250 (3) TRIM38 6 25962802 25991226 N . N N 0.347486221 73.24188227 4.75E-06 79.6 . . TRIM39 6 30326479 30343729 N . N N -0.209801572 34.94819702 0.999421098 5.3 . . TRIM39-RPP21 6 30328907 30346858 N . N N . . . . . . TRIM4 7 99876958 99919600 N . N N -0.032448102 47.13781328 1.68E-06 81.6 . . TRIM40 6 30136108 30148735 N . N N 0.508729649 80.80685304 1.53E-07 85.6 . . TRIM41 5 181222499 181235809 N . N N 0.020375797 51.11419807 0.965388636 13.5 . . TRIM42 3 140678039 140701150 N . N N 0.689261116 86.63541124 5.58E-15 96.8 . . TRIM43 2 95592018 95599778 N . N N . . 0.484034993 30.4 . . TRIM44 11 35662805 35818007 N . N N -0.318672489 28.34982925 0.163653747 40 . . TRIM46 1 155173787 155184971 N . N N -0.369931993 25.87833536 0.998652125 6.3 . . TRIM47 17 75874161 75878575 N . N N -0.088644586 42.93569485 0.321925208 35.1 . . TRIM48 11 55262182 55271119 N . N N 1.453535053 96.72975632 1.77E-14 96.6 . . TRIM49 11 89797655 89808575 N . N N 0.890592391 90.9532905 0.645523396 26.2 . . TRIM49B 11 49027501 49038451 N . N N 0.383238758 75.08826764 7.56E-05 72.7 . . TRIM49C 11 90031106 90042025 N . N N . . 0.161108014 40.1 . . TRIM49D1 11 89911111 89921767 N . N N . . . . . . TRIM49D2 11 89924064 89933063 N . N N . . . . . . TRIM5 11 5663557 5938619 N . N N 0.492109495 80.16438039 4.37E-08 87.2 DFP . TRIM50 7 73312539 73328082 N . N Y 0.531387625 81.71557562 2.73E-06 80.7 . . TRIM51 11 55883297 55891810 N . N N . . 1.05E-05 77.9 . . TRIM52 5 181254417 181261139 N . N N -0.097256408 42.28164612 8.08E-06 78.6 . . TRIM54 2 27282392 27307439 N . N Y 0.013526612 50.54118192 8.25E-07 82.9 . . TRIM55 8 66126896 66175487 N . N Y -0.340876394 27.19222087 0.000207996 69.7 . . TRIM56 7 101085439 101097967 N . N N -0.896119509 9.66024194 0.080157922 44.5 . . TRIM58 1 247857199 247878205 N . N N -0.029577629 47.32881866 2.08E-07 85.1 DP . TRIM59 3 160432445 160485773 N . N N 0.642023041 85.42571048 0.032110957 49.3 . . TRIM6 11 5596109 5612958 N . N N -0.039799513 46.63425363 3.79E-10 92 . . TRIM60 4 165031953 165041744 N . N N -0.120570168 40.6899346 2.87E-07 84.6 . . TRIM61 4 164954446 164977668 N . N N 0.351015356 73.42131157 0.672137879 25.5 . . TRIM62 1 33145402 33182059 N . N Y -0.098061234 42.21218962 0.001611418 62.8 . . TRIM63 1 26051304 26068436 N . N Y 0.196468728 64.17780865 4.72E-12 94.7 DM . TRIM64 11 89968502 89975228 N . N N . . . . . . TRIM64B 11 89869282 89876017 N . N N . . . . . . TRIM64C 11 49053714 49059112 N . N N . . 0.012116567 54.2 . . TRIM65 17 75880335 75897003 N Viable N Y . . 2.48E-09 90.3 . . TRIM66 11 8612037 8671866 N . N Y . . . . . . TRIM67 1 231162112 231221556 N . N N -0.272543821 31.13387741 0.672039658 25.5 . . TRIM68 11 4598672 4608259 N . N N -0.094233924 42.51895584 2.15E-11 93.9 . . TRIM69 15 44728988 44767829 N . N N -0.142122259 39.27186433 1.96E-10 92.5 . . TRIM6-TRIM34 11 5596725 5644398 N . N N -0.104305182 41.84754298 2.31E-11 93.8 . . TRIM7 5 181193924 181205293 N . N N 0.143947707 60.52555421 0.065940078 45.4 . . TRIM72 16 31214021 31231537 N . N Y . . 0.000530648 66.9 . . TRIM73 7 75395063 75410996 N . N N . . . . . . TRIM74 7 72959485 72969466 N . N N . . 0.78033382 22.3 . . TRIM77 11 89710299 89717872 N . N N . . . . . . TRIM8 10 102644496 102658407 N . N N -0.568991981 17.68825606 0.992012341 9.4 . . TRIM9 14 50975262 51096061 N . N Y -1.261230767 5.035596458 0.987914428 10.4 . . TRIML1 4 188139419 188147743 N . N N 0.044646769 52.94321931 9.17E-11 93 . . TRIML2 4 188091273 188109603 N . N N 1.02389186 93.08907796 8.26E-10 91.2 . . TRIP10 19 6737925 6751526 N . N Y -0.484391928 20.79064652 0.354472308 34 . . TRIP13 5 892643 919357 Y Viable N Y -0.564360358 17.79244082 0.968635141 13.2 . . TRIP4 15 64387748 64455303 N . N N -0.247164145 32.62140418 3.04E-07 84.5 . . TRIP6 7 100867138 100873454 N . N N 0.133725635 59.73838051 0.659398351 25.8 . . TRIQK 8 92883530 93017673 N . N N . . . . . . TRIT1 1 39841022 39883511 N . N N 0.227437499 66.09943856 9.43E-10 91.2 . . TRMT10A 4 99546709 99564032 N . N Y 0.054717474 53.7014528 2.84E-05 75.3 . Microcephaly, short stature, and impaired glucose metabolism, 616033 (3) TRMT10B 9 37753803 37778972 N . N N -0.104759418 41.81281472 8.98E-05 72.2 . . TRMT10C 3 101561862 101566446 N . N N -0.132857585 39.9027609 1.06E-05 77.9 . . TRMT11 6 125986430 126039276 N . N N 0.279958701 69.3233779 8.24E-06 78.6 . . TRMT112 11 64316460 64318084 N . N N -0.10299811 41.92278752 0.141017363 41 . . TRMT12 8 124450820 124462150 N . N N -0.084968981 43.20194478 0.942425529 15.4 . . TRMT13 1 100133150 100150497 N . N N -0.599004688 16.73901719 2.93E-05 75.3 . . TRMT1L 1 185118098 185157072 N . N N -0.382218725 25.31689529 0.939618901 15.6 . . TRMT2A 22 20111866 20117392 N Viable N Y 0.103061106 57.42895179 1.31E-05 77.3 . . TRMT2B X 101009346 101052116 N . N N -0.277328762 30.80974706 0.000100905 71.8 . . TRMT44 4 8436140 8493531 N . N N 1.164699834 94.68657753 1.48E-13 96 DM? . TRMT5 14 60971451 60981358 N . N N 0.75935546 88.29657927 0.96526793 13.5 . Combined oxidative phosphorylation deficiency 26, 616539 (3) TRMT6 20 5937235 5950558 N . N N -0.871037997 10.15801354 0.000492532 67.1 . . TRMT61A 14 103529184 103537073 N . N N -0.142274465 39.26028824 0.005702065 57.5 . . TRMT61B 2 28849821 28870301 N . N N 0.041776336 52.69433351 4.01E-06 80 . . TRMU 22 46330875 46357340 N . N N 0.047365707 53.22683336 5.76E-09 89.5 DM {Deafness, mitochondrial, modifier of}, 580000 (3); Liver failure, transient infantile, 613070 (3) TRNAU1AP 1 28553085 28578545 N . N N -0.500661427 20.13080975 0.882819952 18.5 . . TRNP1 1 26993707 27000898 N . N N . . . . . . TRNT1 3 3126916 3150879 N . N N -0.240617998 33.02077907 2.46E-06 80.9 . Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3) TROAP 12 49323236 49331731 N . N N 0.40222616 75.9391098 3.02E-07 84.5 DM? . TROVE2 1 193059422 193091777 N . N Y -0.483586384 20.81958673 0.0190449 51.9 DM? . TRPA1 8 72019917 72075617 N . N Y -0.653810709 15.25149042 9.97E-23 99.1 DM Episodic pain syndrome, familial, 615040 (3) TRPC1 3 142724074 142807888 N . N Y -0.860663415 10.36638305 0.784921837 22.1 . . TRPC4 13 37636636 37870425 N . N Y -1.027506248 7.512878393 0.967651076 13.3 DFP . TRPC5 X 111774315 112082776 N Viable N Y -0.589587419 17.08051166 0.993636098 9 DM . TRPC6 11 101451564 101872562 N Viable N Y -1.369966643 4.144238004 0.004564105 58.6 DM Glomerulosclerosis, focal segmental, 2, 603965 (3) TRPC7 5 136213320 136365537 N . N Y -1.398071789 3.935868496 0.002986152 60.3 . . TRPM1 15 31001061 31161273 N Viable N Y 0.418998606 76.78995196 1.17E-31 99.7 DM Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) TRPM2 21 44350163 44443081 N . N Y 1.54524893 97.21595184 3.37E-25 99.3 DM . TRPM3 9 70529063 71446904 N . N Y -1.705301859 2.4309776 7.74E-06 78.7 DM . TRPM4 19 49157741 49211836 N . N Y -0.563628752 17.80980494 6.36E-19 98.4 DM Progressive familial heart block, type IB, 604559 (3) TRPM5 11 2404515 2423045 N . N Y 0.505670648 80.66794004 7.64E-17 97.7 . . TRPM8 2 233917398 234019522 N . N Y -1.234483994 5.261330092 4.74E-15 96.9 . . TRPT1 11 64223799 64226254 N . N N 0.317324799 71.58071424 0.008675849 55.5 . . TRPV1 17 3565444 3597098 N . N Y 0.980137036 92.49869769 5.64E-14 96.3 DFP . TRPV2 17 16415542 16437003 N . N Y -1.025594024 7.530242519 0.005629157 57.6 . . TRPV3 17 3510502 3557995 N . N Y -0.509475797 19.81825548 8.74E-14 96.1 DM Olmsted syndrome, 614594 (3); ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3) TRPV4 12 109783085 109833401 N . N Y -0.937318019 8.907796492 7.32E-06 78.8 DM Brachyolmia type 3, 113500 (3); Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3); Metatropic dysplasia, 156530 (3); Hereditary motor and sensory neuropathy, type IIc, 606071 (3); Scapuloperoneal spinal muscular atrophy, 181405 (3); [Sodium serum level QTL 1], 613508 (3); Parastremmatic dwarfism, 168400 (3); SED, Maroteaux type, 184095 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3); Digital arthropathy-brachydactyly, familial, 606835 (3) TRPV5 7 142908101 142933808 N . N Y -0.521759631 19.3783643 4.66E-10 91.8 FP . TRPV6 7 142871203 142885762 N . N Y -0.501162499 20.0960815 0.001413484 63.3 . . TRUB1 10 114938193 114977676 N . N N -0.011852785 48.56745963 0.000523645 66.9 . . TSACC 1 156337314 156346995 N . N N 0.389487678 75.3313654 0.069791726 45.1 . . TSC22D1 13 44432143 44577147 N . N Y -1.486907762 3.43230885 0.941151546 15.5 . . TSC22D2 3 150408335 150466431 N . N N 0.605613802 84.32598252 0.831881107 20.6 . . TSC22D3 X 107713221 107777342 N . N Y -0.178028729 36.84667477 0.771725905 22.6 . . TSC22D4 7 100463359 100479279 N . N N 0.208604733 64.97655843 0.894817347 18 . . TSEN15 1 184051677 184074212 N . N N 0.099585278 57.16270186 0.504749058 29.8 . . TSEN2 3 12484432 12539623 N . N N -0.009787637 48.71216068 0.000104861 71.7 DM Pontocerebellar hypoplasia type 2B, 612389 (3) TSEN34 19 54189938 54194536 N . N N -0.26232271 31.69531747 0.396480812 32.8 DM Pontocerebellar hypoplasia type 2C, 612390 (3) TSEN54 17 75516060 75524739 N . N N 1.689048175 97.87578862 1.76E-05 76.6 DM Pontocerebellar hypoplasia type 2A, 277470 (3); Pontocerebellar hypoplasia type 4, 225753 (3); ?Pontocerebellar hypoplasia type 5, 610204 (3) TSGA10 2 98997261 99154964 N . N N 0.476146347 79.59715228 0.894352624 18 . . TSGA10IP 11 65945445 65959963 N . N N . . . . . . TSGA13 7 130668648 130687432 N . N N 0.032208434 52.02870869 6.10E-09 89.4 FTV . TSHB 1 115029824 115034309 N . N Y 0.237511303 66.66087862 0.005758085 57.4 DM Hypothryoidism, congenital, nongoitrous 4, 275100 (3) TSKS 19 49739753 49763330 N . N N 0.05597706 53.77669734 0.980813772 11.6 . . TSKU 11 76782251 76798154 N . N Y 0.658942534 85.88296579 0.729712731 23.8 . . TSLP 5 111070062 111078024 N Viable N Y -0.442551286 22.56757539 0.044788174 47.6 DFP . TSN 2 121737103 121767853 N . N N -0.277483031 30.77501881 0.945966338 15.2 . . TSNARE1 8 142212080 142403240 N . N N 0.828951935 89.75516583 3.60E-07 84.2 . . TSNAX 1 231528653 231566524 N . N N -0.448139541 22.37657001 0.972037851 12.8 . . TSNAX-DISC1 1 231528653 231819244 N . N N . . . . . . TSNAXIP1 16 67806765 67832148 N . N N 0.634823568 85.19997685 9.27E-18 98.1 . . TSPAN1 1 46175073 46185958 N . N N 0.265759477 68.41465532 0.000714382 65.9 . . TSPAN10 17 81637171 81648749 N . N N . . 7.87E-07 83 . . TSPAN11 12 30926428 30996599 N . N N 0.405597914 76.13011518 2.96E-05 75.2 . . TSPAN12 7 120787320 120858402 N . N Y 0.046257695 53.10528448 0.554920626 28.5 DM Exudative vitreoretinopathy 5, 613310 (3) TSPAN13 7 16753535 16784536 N . N N -0.366562778 26.04618857 0.609851374 27.2 . . TSPAN14 10 80454166 80533123 N . N N -0.335593115 27.47004688 0.863069548 19.4 . . TSPAN15 10 69451473 69507669 N . N N 0.774215256 88.62649766 0.001855808 62.2 . . TSPAN16 19 11296139 11326996 N . N N 0.509685942 80.85894542 0.000252238 69.1 . . TSPAN17 5 176647387 176659054 N . N N -0.261365676 31.77635006 1.32E-05 77.3 DM? . TSPAN18 11 44726465 44932421 N Viable N Y 0.017202414 50.84794814 0.161860431 40.1 . . TSPAN19 12 85014311 85036277 N . N N 0.442010439 77.98228859 2.64E-09 90.3 . . TSPAN2 1 115048011 115089500 N . N Y 0.08936246 56.39289228 0.000100587 71.8 . . TSPAN3 15 77041404 77083984 N . N N -0.012004394 48.53851942 0.284424065 36.1 . . TSPAN31 12 57738013 57750211 N . N N -0.223047092 34.13208312 0.32725853 34.9 . . TSPAN32 11 2301997 2318200 N . N N 1.078185261 93.71418649 0.000537261 66.8 . . TSPAN33 7 129144892 129169697 N . N Y -0.144188409 39.10979915 0.000103178 71.8 . . TSPAN4 11 842808 867116 N . N N 0.173002985 62.75973838 2.52E-06 80.8 . . TSPAN5 4 98470367 98658629 N . N N -0.465060678 21.67042889 0.927948897 16.2 . . TSPAN6 X 100627109 100639991 N . N N 0.366978017 74.20848527 0.028202183 50 . . TSPAN7 X 38561370 38688920 N . N N 0.0545666 53.67251259 0.869950131 19.1 DM Mental retardation, X-linked 58, 300210 (3) TSPAN8 12 71125085 71441898 N . N N 0.652248451 85.69774845 0.008694721 55.5 . . TSPAN9 12 3077355 3286564 N . N N -0.207083847 35.09289807 0.779777701 22.3 . . TSPEAR 21 44497892 44711580 N . N N 1.029950341 93.15853447 1.87E-10 92.5 DM Deafness, autosomal recessive 98, 614861 (3) TSPO 22 43151514 43163242 N Viable N Y . . 0.021753057 51.2 DP . TSPO2 6 41042554 41044337 N . N N 0.12592113 59.20588065 4.29E-07 84 . . TSPY1 Y 9466955 9490081 N . N N . . . . DP . TSPY10 Y 9527880 9530682 N . N N . . . . . . TSPY2 Y 6246223 6249019 N . N N . . . . . . TSPY3 Y 9398421 9401223 N . N N . . . . . . TSPY4 Y 9337464 9340284 N . N N . . . . . . TSPY6P Y 9487286 9490081 N . N N . . . . . . TSPY8 Y 9357797 9380870 N . N N . . . . . . TSPYL1 6 116276578 116279903 N . N N 0.562357003 82.81530358 0.007991587 55.9 DM Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) TSPYL2 X 53082367 53088540 N Viable N Y -0.043626754 46.35063958 0.874635828 18.9 . . TSPYL4 6 116249961 116254140 N . N N 0.789222232 88.97378017 0.002618666 60.9 . . TSPYL5 8 97273474 97277964 N . N N -0.411426546 23.88724894 0.852598058 19.8 FP . TSPYL6 2 54253184 54256272 N . N N 0.711616165 87.19106326 0.581660026 27.9 . . TSR1 17 2322503 2337507 N . N N -0.231857415 33.61115934 8.33E-20 98.6 . . TSR2 X 54440401 54445487 N . N N 0.046106757 53.06476819 0.760610429 22.8 . ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3) TSR3 16 1349240 1351911 N . N N -0.207887594 35.06395786 0.002407582 61.2 . . TSSC1 2 3188925 3377882 N . N N -0.45181342 22.19714071 0.121031637 42 . . TSSC4 11 2400488 2403878 N . N N 0.83247669 89.8477745 0.013278189 53.7 DP . TSSK1B 5 113432554 113435031 N . N N 0.290331873 69.95427447 0.000465468 67.2 . . TSSK2 22 19130808 19132623 N . N N 0.333436727 72.48943682 0.004156529 58.9 DP . TSSK3 1 32351521 32364312 N . N N 0.108195341 57.87463101 0.763235263 22.8 FTV . TSSK4 14 24205697 24208362 N . N N 0.124158088 59.0611796 2.51E-11 93.8 DP . TSSK6 19 19512418 19515685 N . N Y 0.00123959 49.58036696 0.587550747 27.8 . . TST 22 37010859 37020183 N Viable N Y 0.979680151 92.48712161 0.000731843 65.8 FP . TSTD1 1 161037631 161038990 N . N N . . . . . . TSTD2 9 97600080 97633575 N . N N 0.315711326 71.46495341 1.63E-06 81.7 . . TTBK1 6 43243680 43288259 N . N N -0.695292411 14.09388204 0.997306963 7.3 . . TTC1 5 160009113 160065543 N . N N 0.091275867 56.54338137 0.001851677 62.2 . . TTC12 11 113314529 113383544 N . N N 0.232373568 66.38305261 1.45E-07 85.7 . . TTC13 1 230906243 230978875 N . N N -1.18332098 5.759101696 0.673224182 25.4 . . TTC14 3 180602130 180617828 N . N N -0.405534288 24.1303467 4.42E-06 79.8 . . TTC16 9 127716066 127731600 N . N N 2.166194439 98.80766337 5.08E-12 94.6 . . TTC17 11 43358932 43494933 N . N N -1.355637738 4.2542108 0.999727594 4.5 . . TTC19 17 15999380 16045015 N . N N 0.033165214 52.10395323 1.05E-10 92.9 DM Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) TTC21A 3 39107704 39138903 N . N N 0.552770537 82.53747757 2.12E-16 97.6 . . TTC21B 2 165857475 165953843 N . N Y 0.237627036 66.66666667 3.39E-22 99 DM Nephronophthisis 12, 613820 (3); Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) TTC22 1 54779712 54801267 N . N N . . 0.000878027 65.2 . . TTC23 15 99136323 99251223 N . N N 0.191835947 63.9231348 4.35E-16 97.5 . . TTC23L 5 34838833 34899456 N . N N 0.702049624 86.94217746 2.22E-09 90.4 . . TTC24 1 156579727 156586770 N . N N . . 6.58E-05 73.1 . . TTC25 17 41930635 41965651 N . N N . . . . . . TTC27 2 32628032 32821051 N . N N 0.094601099 56.72859872 6.54E-09 89.3 . . TTC28 22 27978014 28679865 N Viable N Y . . . . . . TTC29 4 146706638 146945882 N . N N 0.794959429 89.10690513 1.57E-06 81.8 . . TTC3 21 37073226 37203112 N . N N -1.87874564 1.967934248 5.39E-20 98.7 . . TTC30A 2 177612992 177618966 N . N N 0.169478709 62.46454824 1.36E-05 77.2 . . TTC30B 2 177548998 177553014 N . N N 0.737954513 87.79880766 0.001861851 62.1 . . TTC31 2 74483073 74494886 N . N N 0.732212252 87.62516641 2.62E-15 97 . . TTC32 2 19896643 19901986 N . N N 0.06589658 54.61017538 0.089897896 43.8 . . TTC33 5 40714475 40755975 N . N N -0.039146033 46.66319384 0.022618545 51 . . TTC34 1 2635976 2801721 N . N N . . . . . . TTC36 11 118527472 118531197 N . N N 0.335052688 72.57046941 0.507038898 29.8 . . TTC37 5 95463895 95555007 N . N N 0.518129295 81.17728772 7.99E-20 98.6 DM Trichohepatoenteric syndrome 1, 222470 (3) TTC38 22 46267961 46294008 N . N N 0.278196204 69.21340511 5.70E-10 91.6 . . TTC39A 1 51287258 51345116 N . N N -0.069006169 44.45216183 0.098310255 43.3 . . TTC39B 9 15163622 15307360 N . N Y -0.329546751 27.75944898 1.07E-11 94.2 . . TTC39C 18 23992773 24135610 N . N N -0.517427071 19.54042947 0.014646861 53.3 . . TTC4 1 54715822 54742657 N . N N 0.096059501 56.83857151 0.043967592 47.7 . . TTC5 14 20256558 20305994 N . N N -0.106521065 41.70862997 0.002493625 61.1 . . TTC6 14 37595847 38041442 N . N N . . 8.74E-09 89.1 DM? . TTC7B 14 90524564 90816479 N . N N -0.652184261 15.32673497 0.999902561 3.7 . . TTC9 14 70641787 70675360 N . N N 0.039560397 52.53226833 0.058556658 46.1 . . TTC9B 19 40216058 40218399 N . N N -0.299992293 29.44376917 0.027179794 50.2 . . TTC9C 11 62728069 62740293 N . N N 0.112828307 58.21033744 0.000139735 70.9 . . TTF1 9 132375548 132406851 N . N N 1.79459056 98.17097876 1.47E-06 82 . {Thyroid cancer, monmedullary, 1}, 188550 (3); Chorea, hereditary benign, 118700 (3); Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) TTF2 1 117060303 117107453 N . N N 0.242100324 66.98500897 7.35E-16 97.4 DM? Bamforth-Lazarus syndrome, 241850 (3); {Thyroid cancer, nonmedullary, 4}, 616534 (3) TTI1 20 37983007 38033468 N . N N -0.309610286 28.95178561 0.000238871 69.2 . . TTI2 8 33473386 33513601 N . N N 0.231264514 66.30780807 0.001886337 62.1 DM Mental retardation, autosomal recessive 39, 615541 (3) TTK 6 80003887 80042527 N . N N -0.147560478 38.90721769 0.005357769 57.8 . . TTLL1 22 43039644 43089428 N . N Y -0.263127019 31.65480118 0.005632995 57.6 . . TTLL10 1 1173884 1197935 N . N N . . 1.95E-05 76.3 . . TTLL11 9 121821928 122093606 N . N N . . 0.018231837 52.1 DM? . TTLL12 22 43166622 43187133 N . N N -0.262826333 31.66637726 1.99E-15 97.1 . . TTLL2 6 167325086 167359503 N . N N 1.531598864 97.10019101 4.94E-06 79.6 . . TTLL3 3 9808086 9855138 N . N Y 0.983011769 92.56815419 3.84E-14 96.4 . . TTLL4 2 218710845 218755416 N . N Y 0.699004041 86.87272096 2.83E-06 80.6 . . TTLL5 14 75633625 75955078 N . N N -0.21273075 34.72246339 1.98E-09 90.5 . Cone-rod dystrophy 19, 615860 (3) TTLL6 17 48762235 48817214 N Viable N Y 0.325128069 72.04954564 7.49E-08 86.5 . . TTLL7 1 83865028 83999150 N . N N -0.749875342 12.63529548 0.268072469 36.6 . . TTLL8 22 50015123 50056935 N . N N . . . . . . TTLL9 20 31870702 31944963 N . N N 1.011754378 92.90386062 4.49E-10 91.8 . . TTPA 8 63048553 63086053 N . N Y 0.332331078 72.43734445 0.009884316 55 DM Ataxia with isolated vitamin E deficiency, 277460 (3) TTPAL 20 44475886 44494603 N . N N -0.217304588 34.45621346 0.640756733 26.3 . . TTR 18 31591726 31599021 N . N Y 0.314455675 71.33761648 0.130835841 41.5 DM Amyloidosis, hereditary, transthyretin-related, 105210 (3); [Dystransthyretinemic hyperthyroxinemia], 145680 (3); Carpal tunnel syndrome, familial, 115430 (3) TTYH2 17 74213514 74262020 N . N N 0.663879122 86.06239509 0.347961542 34.3 . . TTYH3 7 2631951 2664802 N . N N -0.310058921 28.94020953 0.979598759 11.8 . . TUB 11 8019244 8106112 N . N Y -0.65792236 15.11836546 0.471428314 30.8 . ?Retinal dystrophy and obesity, 616188 (3) TUBA1A 12 49184796 49189324 N . N N 0.489898374 80.08913585 0.836535571 20.4 DM Lissencephaly 3, 611603 (3) TUBA1B 12 49127782 49131397 N . N N -0.275568538 30.94287203 0.828418235 20.7 . . TUBA1C 12 49188736 49274603 N . N N -0.949902102 8.71679111 0.84015077 20.3 . . TUBA3C 13 19173770 19181852 N . N N -0.587673557 17.16733229 0.006817594 56.7 . . TUBA3D 2 131476093 131482934 N . N N 0.377649382 74.81044163 3.71E-08 87.4 . . TUBA3E 2 130191743 130198461 N Viable N Y 0.517489897 81.14255947 0.001205278 64 . . TUBA4A 2 219249711 219278170 N . N N -0.823301011 11.09567633 0.029637936 49.7 . Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia, 616208 (3) TUBA4B 2 219253243 219272188 N . N N . . . . . . TUBA8 22 18110331 18146554 N . N N 0.146818001 60.78601609 0.003227497 60 DM Polymicrogyria with optic nerve hypoplasia, 613180 (3) TUBAL3 10 5393098 5404830 N . N N 0.846676602 90.15454072 0.000170843 70.3 FTV . TUBB 6 30720201 30725426 N . N N -0.291531924 29.91838861 0.875276521 18.9 DM Cortical dysplasia, complex, with other brain malformations 6, 615771 (3) TUBB1 20 59019254 59026654 N . N Y 0.429214031 77.35718007 7.17E-06 78.9 DM Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3) TUBB2A 6 3153669 3157526 N . N N 0.118418051 58.60971233 . . DFP Cortical dysplasia, complex, with other brain malformations 5, 615763 (3) TUBB4A 19 6494319 6502848 N . N N -0.662859235 14.96208833 0.003055663 60.3 DM Dystonia 4, torsion, autosomal dominant, 128101 (3); Leukodystrophy, hypomyelinating, 6, 612438 (3) TUBB4B 9 137241213 137243707 N . N N -0.924519496 9.145106211 0.929541174 16.2 . . TUBB6 18 12307669 12344320 N . N N -0.698460933 13.95496903 0.000511267 67 . . TUBB8 10 46892 74163 N . N N 2.189340232 98.84817966 0.266953543 36.6 . . TUBB8P12 18 47221 73545 N . N N . . . . . . TUBD1 17 59859482 59892945 N . N N -0.129986883 40.1111304 0.000375248 68 . . TUBE1 6 112070777 112087529 N . N N -0.190010792 36.18104995 1.25E-05 77.5 . . TUBG2 17 42659305 42667006 N . N Y -1.038987633 7.397117555 0.004310019 58.8 . . TUBGCP2 10 133278630 133312337 N . N N -0.530073956 19.00214158 5.05E-05 73.9 . . TUBGCP3 13 112485005 112588167 N . N N -1.52851566 3.200787174 0.952526134 14.5 . . TUBGCP4 15 43369221 43409771 N . N N -0.542654523 18.49279389 0.005283482 57.9 DM? Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3) TUBGCP5 15 22983192 23039673 N . N N -1.045237847 7.269780633 0.000126197 71.2 DM? . TUBGCP6 22 50217689 50244992 N . N N -0.163163167 37.79591364 5.09E-19 98.4 DM? Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) TUFM 16 28842411 28846408 N . N N -0.311015862 28.89390519 0.651456012 26 DM Combined oxidative phosphorylation deficiency 4, 610678 (3) TUFT1 1 151540305 151583583 N . N N 0.3596227 73.91329513 0.018080099 52.2 . . TULP1 6 35497874 35512938 N . N Y 0.145861223 60.69919546 0.80790432 21.3 DM Retinitis pigmentosa 14, 600132 (3); Leber congenital amaurosis 15, 613843 (3) TULP2 19 48880965 48898733 N . N N 1.13755586 94.41453956 1.83E-07 85.3 . . TULP4 6 158232236 158511828 N . N N -1.022093918 7.576546854 0.999936803 3.4 . . TUSC1 9 25676389 25678440 N . N N . . 0.324671553 35 . . TUSC2 3 50320027 50328251 N . N Y . . 0.703033004 24.5 . . TUSC3 8 15417215 15766649 N . N N -1.033398927 7.426057765 0.001898764 62 DM Mental retardation, autosomal recessive 7, 611093 (3) TUSC5 17 1279663 1300987 N . N N 0.532195638 81.73293975 0.101235964 43 . . TUT1 11 62575045 62592177 N . N N -0.3499951 26.79284598 9.99E-06 78.1 . . TVP23A 16 10760919 10818794 N . N N 0.292902568 70.08739943 2.04E-06 81.3 . . TVP23B 17 18780995 18806714 N . N N -0.214586899 34.6414308 0.429732873 32 . . TVP23C 17 15502264 15563595 N . N N 0.269585727 68.68669329 0.000136737 71 . . TVP23C-CDRT4 17 15436021 15563561 N . N N 0.088405766 56.3118597 0.002362297 61.3 . . TWF1 12 43793723 43806375 N . N Y -0.119765437 40.78833131 0.007963693 55.9 . . TWF2 3 52228610 52239260 N . N N -0.487414582 20.68067373 0.857810164 19.6 . . TWISTNB 7 19695462 19709087 N . N N 0.207648094 64.90710193 0.309424388 35.5 . . TXK 4 48066393 48134256 N . N Y 0.01926743 51.03895352 1.25E-07 85.9 . . TXLNA 1 32179686 32198285 N . N N -0.137489868 39.60757076 0.995925358 8 . . TXLNB 6 139240061 139292139 N . N N 0.756790706 88.25606297 1.65E-16 97.6 DM? . TXLNG X 16786427 16844519 N . N Y 0.109152052 57.94408752 0.992209566 9.4 . . TXNDC11 16 11679080 11742878 N . N N 0.017808679 50.85952422 0.003178008 60.1 . . TXNDC12 1 52020131 52056171 N . N N 0.094952155 56.76911501 0.344869173 34.4 . . TXNDC15 5 134873803 134901525 N . N N 0.0200728 51.09683394 0.109182713 42.6 . . TXNDC16 14 52430590 52552522 N . N N 0.046712199 53.12843665 1.69E-07 85.4 . . TXNDC17 17 6640758 6644541 N . N N 0.139970692 60.17827169 0.035515895 48.9 . . TXNDC2 18 9885726 9889275 N . N Y 0.469600161 79.30775019 2.94E-07 84.6 . . TXNDC5 6 7881517 7910814 N Viable N Y 0.264952627 68.37992707 1.79E-06 81.5 . . TXNDC8 9 110303521 110337884 N . N N 0.412953559 76.48897378 0.835982582 20.4 . . TXNDC9 2 99318982 99340702 N . N N -0.011047557 48.60797592 0.223930351 37.9 . . TXNIP 1 145992435 145996600 N Viable N Y -0.482629449 20.86589107 0.252140354 37 . . TXNL1 18 56597208 56651600 N . N N -0.198623704 35.57909359 0.956025974 14.3 . . TXNL4A 18 79970811 80033949 N . N N -0.059893552 45.10042253 0.001546737 62.9 . Burn-McKeown syndrome, 608572 (3) TXNL4B 16 72044289 72094431 N . N N 0.117461409 58.54604387 0.017306522 52.4 . . TXNRD3 3 126571779 126655155 N . N N . . . . . . TXNRD3NB 3 126571789 126572636 N . N N -0.065482771 44.7241998 0.001774175 62.4 . . TYK2 19 10350529 10380676 N . N Y -0.058985812 45.16987903 0.004314482 58.8 DM Immunodeficiency 35, 611521 (3) TYMP 22 50525752 50530085 N . N Y -0.132857585 39.9027609 0.000465859 67.2 DM Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) TYMS 18 657604 673578 N . N N -0.170525669 37.3618105 0.924544533 16.4 DFP . TYRO3 15 41557675 41583586 N . N Y -0.664322798 14.91578399 0.761822543 22.8 . . TYROBP 19 35904401 35908295 N . N Y 0.678438311 86.37494935 0.485203147 30.4 DM Nasu-Hakola disease, 221770 (3) TYSND1 10 70137981 70146676 N . N N . . 0.0666401 45.4 . . TYW1 7 66995173 67239519 N . N N 0.006326625 49.97974185 0.000457249 67.3 . . TYW1B 7 72558744 72828198 N . N N . . 8.12E-09 89.2 . . TYW3 1 74733152 74766678 N . N N 0.091275867 56.54338137 0.43187196 31.9 . . TYW5 2 199929975 199955736 N . N N -0.066287483 44.66631938 2.20E-07 85 . . U2AF1 21 43092956 43107587 N . N N -0.148973548 38.82039706 0.98659563 10.7 . . U2AF1L4 19 35742464 35745445 N . N Y -0.074747377 44.06436303 5.80E-07 83.5 . . U2AF1L5 21 6484623 6499261 N . N N . . . . . . U2AF2 19 55654146 55674715 N . N N -0.641306922 15.65086531 0.997188847 7.4 . . U2SURP 3 142964497 143060546 N . N N -1.314716032 4.624645482 0.999999613 1.4 . . U51561.1 22 46915328 46915908 N . N N . . . . . . U82695.5 X 153395640 153401420 N . N N . . . . . . UACA 15 70654554 70763593 N . N Y 0.738438948 87.80459571 2.35E-17 97.9 . . UAP1 1 162561506 162599842 N . N N -0.137489868 39.60757076 0.90807501 17.4 . . UAP1L1 9 137077501 137084539 N . N N -0.213476698 34.71088731 0.00112977 64.2 . . UBA1 X 47190861 47215128 N . N N -0.912230915 9.347687677 0.999990742 2.5 DM Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) UBA52 19 18571730 18577550 N . N N -0.037384251 46.76159055 0.44680007 31.5 . . UBA7 3 49805207 49813946 N . N N -0.160503316 37.97534294 2.68E-14 96.5 DM? . UBAC1 9 135932969 135961380 N . N N 0.100843326 57.30161486 0.865452587 19.2 . . UBAC2 13 99200774 99386434 N . N N 0.063177242 54.40180587 0.111492354 42.5 DFP . UBALD1 16 4608883 4615027 N . N N 0.422369205 76.96359322 0.700158646 24.6 . . UBALD2 17 76265202 76271299 N . N N . . 0.262586852 36.7 . . UBAP1L 15 65092770 65115197 N . N N . . . . . . UBAP2 9 33921693 34048949 N . N N 0.122048968 58.85281009 0.98950935 10 DM? . UBAP2L 1 154220179 154271510 N . N Y -1.562216068 3.009781791 0.999999873 1.2 . . UBASH3A 21 42403899 42447681 N Viable N Y 0.194858521 64.1025641 3.97E-07 84 . . UBASH3B 11 122655675 122814473 N . N N -0.290268599 30.04572553 0.988510645 10.3 . . UBB 17 16380798 16382745 N . N Y -0.532589029 18.86901661 0.620802082 26.9 . Cleft palate, isolated, 119540 (2) UBD 6 29555515 29559925 N . N Y 0.853886889 90.27030156 0.079895751 44.5 DP . UBE2D1 10 58334975 58370753 N . N N 0.357562369 73.8264745 0.90888495 17.4 . . UBE2D2 5 139526431 139628433 N . N Y 0.090168851 56.43919662 0.94531266 15.2 . . UBE2D3 4 102794383 102868896 N . N N 0.251561226 67.52329687 0.74820302 23.2 . . UBE2D4 7 43926438 43956136 N . N N -0.019507464 47.94813914 0.002318608 61.4 FTV . UBE2E1 3 23805903 23891316 N . N N -0.088948948 42.87202639 0.872957997 18.9 . . UBE2E2 3 23203020 23591793 N Viable N Y -0.202452202 35.31863171 0.924393312 16.4 . . UBE2E3 2 180967248 181076585 N . N N 0.092082157 56.56653354 0.653907526 25.9 . . UBE2F 2 237966827 238042782 N . N N -0.186488904 36.36626729 0.950479185 14.7 . . UBE2F-SCLY 2 237967014 238099412 N . N N . . . . . . UBE2G1 17 4269259 4366628 N Viable N Y 0.046106757 53.06476819 0.745694457 23.3 . . UBE2G2 21 44768580 44802019 N . N N -0.15647662 38.26474504 0.247416499 37.2 . . UBE2J1 6 89326625 89352848 N Viable N Y 0.282678709 69.47965503 0.857925444 19.6 . . UBE2J2 1 1253909 1273885 N . N N -0.349641992 26.83336227 0.415938847 32.4 . . UBE2K 4 39698044 39782792 N . N N 0.08362237 55.98772935 0.962613421 13.7 . . UBE2L6 11 57551656 57568284 N . N N 0.300405715 70.5388667 0.01401033 53.5 . . UBE2Q2 15 75843285 75901078 N . N N 0.109152052 57.94408752 0.00105604 64.5 . . UBE2Q2L 15 84172490 84182234 N . N N . . . . . . UBE2QL1 5 6448623 6494909 N . N N . . . . . . UBE2R2 9 33817567 33920404 N . N N -0.277483031 30.77501881 0.908519449 17.4 . . UBE2S 19 55399745 55407777 N . N N 0.123201392 58.99751114 0.801671664 21.6 . . UBE2T 1 202331657 202341980 N . N N 0.087449076 56.25976732 0.000369195 68 DM? Fanconi anemia, complementation group T, 616435 (3) UBE2U 1 64203627 64267368 N Viable N Y 0.195362073 64.12571627 7.81E-08 86.4 . . UBE2V1 20 50081124 50115959 N . N N -0.15647662 38.26474504 0.001954526 62 . . UBE2V2 8 48008400 48064708 N . N N 0.032057299 51.99976848 0.108879326 42.7 . . UBE2W 8 73780097 73878910 N . N N . . 0.954557961 14.3 . . UBE2Z 17 48908369 48929056 N . N N -0.224961447 34.00474619 0.92755873 16.2 . . UBE3C 7 157138913 157269372 N Viable N Y -1.415807333 3.837471783 0.999999273 1.6 DM? . UBE3D 6 82892398 83065841 N . N N 0.369038883 74.34161023 9.58E-08 86.2 . . UBE4A 11 118359585 118399211 N . N N -0.46460294 21.68200498 0.937619432 15.7 . . UBFD1 16 23557362 23574389 N . N N 0.028381319 51.66985009 0.839698364 20.3 . . UBIAD1 1 11273206 11296049 N . N N -0.42930414 23.16374371 0.568905634 28.3 DM Corneal dystrophy, Schnyder type, 121800 (3) UBL3 13 29764371 29850684 N . N N 0.205585801 64.70452046 0.71809918 24.1 . . UBL4A X 154483717 154486670 N . N Y 0.032057299 51.99976848 0.275271317 36.3 . . UBL4B 1 110112468 110113945 N . N N 0.793858151 89.06638884 0.000847798 65.4 . . UBL5 19 9827892 9830115 N . N N 0.113634918 58.26821786 0.08015833 44.5 . . UBL7 15 74445977 74461182 N . N N -0.042821613 46.39115587 0.02775544 50.1 . . UBN1 16 4846665 4882360 N . N N -1.624743314 2.749319905 0.997776757 7.1 . . UBN2 7 139230356 139308236 N . N N -0.059942498 45.07727036 0.998642623 6.4 DM? . UBOX5 20 3107573 3160196 N Viable N Y 0.003304686 49.75979626 0.001786825 62.3 . . UBQLN1 9 83659963 83708203 N . N N -0.691914915 14.19227875 0.998753262 6.2 DM? . UBQLN2 X 56563639 56567868 N . N N -0.325218356 28.00833478 0.804317268 21.5 DM Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3) UBQLN3 11 5507300 5509985 N . N N 1.219297621 95.22486543 0.003828068 59.2 . . UBQLN4 1 156035301 156053794 N . N N -0.076509147 43.9370261 0.99752242 7.2 . . UBQLNL 11 5514393 5516705 N . N N 1.224731043 95.25959368 3.53E-09 90 . . UBR1 15 42942897 43106113 N . N Y -1.120839855 6.366846096 0.319889981 35.2 DM Johanson-Blizzard syndrome, 243800 (3) UBR7 14 93207056 93229215 N . N N -0.060698235 45.04254211 0.426811632 32.1 DM . UBTD1 10 97498868 97571209 N . N N -0.03818917 46.70949818 0.777525004 22.4 . . UBTD2 5 172209640 172284071 N . N N -0.109544183 41.48289634 0.748758502 23.2 . . UBTF 17 44205033 44221626 N . N N -0.983590656 8.161139087 0.999998048 1.9 . . UBTFL1 11 90085950 90087131 N . N N . . . . . . UBXN1 11 62676498 62679117 N . N N 0.222654188 65.80424842 0.76841751 22.6 . . UBXN10 1 20186085 20196048 N . N N 0.335200382 72.59362158 0.000293935 68.7 . . UBXN11 1 26281328 26318363 N . N N 1.336487831 96.02361521 1.20E-10 92.8 . . UBXN2A 2 23927285 24004909 N . N N 0.090319161 56.46813683 0.000588703 66.5 . . UBXN2B 8 58411264 58451501 N . N N -0.356187814 26.51501997 0.487567803 30.3 . . UBXN4 2 135741619 135785055 N . N N -0.387960287 25.05064537 0.974205695 12.5 . . UBXN6 19 4444999 4457822 N . N N 1.439631624 96.64872374 0.047326898 47.3 DP . UBXN7 3 196347662 196432474 N . N N -0.30079494 29.40904092 0.99065719 9.8 . . UBXN8 8 30732247 30767006 N . N N . . . . . . UCHL1 4 41256413 41268455 N . N Y -0.057022786 45.34352029 0.972670211 12.7 DM ?{Parkinson disease 5, susceptibility to}, 613643 (3); ?Neurodegeneration with optic atrophy, childhood onset, 615491 (3) UCHL3 13 75549480 75606020 N . N Y -0.25960522 31.89789894 1.95E-05 76.3 . . UCK1 9 131523801 131531268 N . N N -0.309255099 28.96336169 0.002126631 61.6 . . UCK2 1 165827531 165911618 N . N N -0.048562831 45.92232448 0.962082764 13.7 . . UCKL1 20 63939829 63956415 N . N N -0.600766325 16.68113677 1.43E-08 88.5 . . UCMA 10 13221767 13234334 N . N N 0.741333534 87.88562829 1.85E-07 85.3 FP . UCN 2 27307400 27308445 N . N Y . . 0.517240163 29.5 . . UCN2 3 48561727 48563773 N . N Y 0.30503986 70.79354055 0.157235729 40.3 . . UCN3 10 5365009 5374692 N Viable N Y 0.665343186 86.07975922 0.50814391 29.7 . . UCP1 4 140559434 140568805 N Viable N Y 0.390591665 75.41239799 4.52E-08 87.1 DM? {Obesity, susceptibility to}, 601665 (3) UCP2 11 73974667 73983307 N . N Y 0.279002038 69.25970944 1.92E-08 88.2 DM {Obesity, susceptibility to, BMIQ4}, 607447 (3) UCP3 11 74000281 74009435 N . N Y 0.403834454 76.00277826 1.07E-05 77.9 DM {Obesity, severe, and type II diabetes}, 601665 (3) UEVLD 11 18529609 18588747 N . N N -0.356034079 26.53238409 1.09E-07 86 . . UFC1 1 161152776 161158856 N . N N 0.027424541 51.61775771 0.089954188 43.8 . . UFD1L 22 19449910 19479215 N . N Y -0.419084491 23.53417839 0.997407163 7.3 DM . UFM1 13 38349849 38363619 N . N N -0.044887353 46.22330266 0.464066114 31 . . UFSP1 7 100888723 100889718 N . N N -0.083207293 43.33506975 0.005599269 57.6 . . UFSP2 4 185399540 185425985 N . N N -0.393549347 24.76703131 6.11E-06 79.2 . ?Hip dysplasia, Beukes type, 142669 (3) UGGT1 2 128091200 128195677 N . N N -1.653813582 2.656711235 0.002897263 60.5 . . UGGT2 13 95801580 96053482 N . N N 0.322080701 71.87590438 1.02E-21 99 . . UGP2 2 63840940 63891562 N . N N -0.774451181 12.10279562 0.001020131 64.6 . . UGT1A1 2 233760248 233773299 N . N N -0.19831891 35.60224576 2.94E-09 90.2 DM Crigler-Najjar syndrome, type I, 218800 (3); [Gilbert syndrome], 143500 (3); Crigler-Najjar syndrome, type II, 606785 (3); Hyperbilirubinemia, familial transient neonatal, 237900 (3); [Bilirubin, serum level of, QTL1], 601816 (3) UGT1A10 2 233636454 233773305 N . N N 0.375888247 74.73519708 1.09E-11 94.2 DFP . UGT1A3 2 233729108 233773299 N . N N 0.907816111 91.2426926 2.94E-09 90.2 FP . UGT1A4 2 233718778 233773299 N . N N 1.326269323 95.97152283 2.34E-06 81 DM . UGT1A5 2 233712992 233773299 N . N N 1.632988763 97.64426694 0.000100215 71.9 FP . UGT1A6 2 233691607 233773300 N . N N 0.225675149 66.00104185 0.00021788 69.6 DFP . UGT1A7 2 233681938 233773299 N . N N 0.547502461 82.35226023 1.80E-12 95 DFP . UGT1A8 2 233617645 233773310 N . N N -0.156020198 38.31683741 6.96E-05 72.9 FP . UGT1A9 2 233671853 233773300 N . N N 0.883390635 90.80280141 1.32E-08 88.6 DM? . UGT2A1 4 69589194 69653249 N . N N 1.088062547 93.82415929 2.73E-11 93.7 DM? . UGT2A2 4 69589309 69639642 N . N N 0.97997876 92.49290965 2.33E-07 84.9 . . UGT2A3 4 68928463 68951791 N . N N 0.09253511 56.58389767 5.00E-06 79.5 FP . UGT2B10 4 68815993 68831196 N . N N . . 5.51E-15 96.8 DM? . UGT2B11 4 69004618 69214731 N . N N 1.328186059 95.97731088 3.15E-13 95.7 . . UGT2B15 4 68537413 68670628 N . N N 0.7745139 88.64386178 1.92E-10 92.5 DFP . UGT2B17 4 68537184 68568527 N . N N 1.123353728 94.22932222 0.010255606 54.8 DFP {Bone mineral density QTL 12, osteoporosis}, 612560 (3) UGT2B28 4 69280487 69423402 N . N N 1.208920201 95.10910459 6.44E-08 86.7 FP . UGT2B4 4 69480165 69526014 N . N N 0.029640828 51.75088268 8.45E-11 93.1 . . UGT2B7 4 69051363 69112987 N . N N -0.220827915 34.28836025 3.50E-08 87.4 DFP . UGT3A1 5 35951010 36001028 N . N N 0.6271665 84.98003126 5.21E-10 91.7 . . UGT3A2 5 36035017 36071358 N . N N -0.123289027 40.56838572 2.94E-10 92.2 . . UGT8 4 114598455 114678224 N . N Y -0.067092495 44.59686288 0.226816186 37.8 DP . UHMK1 1 162497251 162529629 N . N Y -0.456445049 22.02349945 0.729319452 23.8 . . UHRF1BP1 6 34792015 34883138 N . N N 0.239384584 66.80557967 2.47E-07 84.8 DP . UHRF1BP1L 12 100028455 100142848 N . N N 0.001997106 49.60930717 0.989377601 10.1 . . UIMC1 5 176905005 177022633 N . N Y -0.142927664 39.19083174 0.032645863 49.3 FP . ULBP1 6 149964007 149973710 N . N N 0.511598665 80.93418996 0.000172612 70.3 . . ULBP2 6 149942000 149949235 N . N N 0.889636308 90.92435029 0.001101388 64.3 . . ULBP3 6 150063150 150069095 N . N N 0.456207175 78.59582103 1.85E-08 88.3 . . ULK1 12 131894651 131923167 N . N Y -0.857234758 10.43005151 0.964459663 13.5 . . ULK2 17 19770829 19867936 N . N Y -0.844407097 10.67893732 1.30E-05 77.3 . . ULK3 15 74836116 74843346 N . N N . . 0.016927159 52.5 . . ULK4 3 41246599 41962430 N . N Y 1.094166216 93.88782775 1.69E-23 99.2 . . UMOD 16 20333052 20356301 N . N Y -0.707725431 13.70608323 3.18E-08 87.5 DM Hyperuricemic nephropathy, familial juvenile 1, 162000 (3); Medullary cystic kidney disease 2, 603860 (3); Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) UMODL1 21 42062959 42143453 N . N N 3.522883218 99.67008161 2.27E-24 99.3 . . UMPS 3 124730366 124749273 N . N N 0.151450703 61.09857035 0.000109217 71.6 DM Orotic aciduria, 258900 (3) UNC119 17 28546707 28552668 N Viable N Y 0.218827885 65.61903108 0.009717421 55 DM ?Cone-rod dystrophy (3); ?Immunodeficiency 13, 615518 (3) UNC119B 12 120710435 120723640 N Viable N Y -0.215544031 34.54882213 0.677325341 25.3 . . UNC13C 15 54012904 54633414 N . N Y -0.763118679 12.34010534 3.69E-07 84.2 . . UNC13D 17 75827225 75844717 N . N N 0.134183897 59.75574463 2.52E-12 94.9 DM Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) UNC50 2 98608579 98618515 N . N N -0.198623704 35.57909359 0.011618307 54.3 . . UNC5A 5 176810477 176880895 N . N Y -0.715079795 13.53244197 0.996259997 7.9 . . UNC5CL 6 41026911 41039217 N . N N 0.622534242 84.83533021 1.67E-07 85.5 FTV . UNC5D 8 35235457 35796550 N . N Y -1.290144562 4.746194362 0.849201861 19.9 . . UNC80 2 209771993 209999300 N . N N . . 0.139839111 41.1 DM? . UNC93A 6 167271169 167316019 N . N N 0.888022062 90.90698617 1.38E-06 82.1 DM? . UNC93B1 11 67991104 68004982 N . N Y . . 0.513837376 29.6 DM {Herpes simplex encephalitis, susceptibility to, 1}, 610551 (3) UNG 12 109097574 109110992 N . N Y 0.012569811 50.44857325 0.046581153 47.4 DM Immunodeficiency with hyper IgM, type 5, 608106 (3) UNK 17 75784771 75825799 N . N N -0.261213329 31.7821381 0.994321108 8.7 . . UNKL 16 1363205 1414751 N . N N . . 0.098857019 43.2 FP . UPB1 22 24494107 24528390 N . N N 0.792239054 89.02587255 1.85E-07 85.3 DM Beta-ureidopropionase deficiency, 613161 (3) UPF3A 13 114281584 114305817 N . N N -0.023031474 47.74555768 0.000813153 65.5 . . UPF3B X 119834022 119852998 N . N N -0.128225396 40.19216299 0.933766901 15.9 DM Mental retardation, X-linked, syndromic 14, 300676 (3) UPK1A 19 35666516 35678483 N . N N 1.157047914 94.57660473 3.36E-05 74.9 . . UPK1B 3 119173517 119205153 N . N Y 0.220740999 65.70006367 4.50E-05 74.2 . . UPK3A 22 45284982 45295874 N . N Y 0.716100076 87.30103606 1.41E-07 85.7 DM . UPK3B 7 76510428 76516521 N . N N 1.125120265 94.25826243 0.000192328 69.9 . . UPK3BL 7 102637025 102642791 N . N N . . . . . . UPP1 7 48088628 48108733 N . N Y -0.220979699 34.27678416 9.01E-05 72.2 . . UPP2 2 157876702 158136154 N . N N 0.170132915 62.53400475 0.002024923 61.8 . . UPRT X 75274085 75304600 N . N N -0.140513426 39.38183712 0.814813817 21.1 . . UQCC1 20 35302566 35412141 N . N N 0.487176305 79.97337501 0.004854425 58.2 . . UQCC2 6 33694293 33711727 N . N N 0.184989352 63.48903166 0.059547733 46.1 . ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3) UQCC3 11 62670273 62673687 N . N N . . . . . ?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3) UQCR10 22 29767369 29770413 N . N N 0.654016419 85.73826475 0.149717439 40.6 . . UQCR11 19 1597172 1605490 N . N N 0.183076334 63.39063495 0.030503461 49.5 . . UQCRC1 3 48599002 48610976 N . N N -0.413187838 23.76570006 0.132467103 41.4 . . UQCRC2 16 21952660 21983660 N . N N 0.021029596 51.14892632 0.007235543 56.5 DM Mitochondrial complex III deficiency, nuclear type 5, 615160 (3) UQCRH 1 46303631 46316776 N . N N 0.214045409 65.29490074 0.218440721 38.1 . . UQCRHL 1 15807169 15809348 N . N N . . . . . . UQCRQ 5 132866560 132868031 N . N N 0.009548021 50.25756786 0.091912978 43.6 DM Mitochondrial complex III deficiency, nuclear type 4, 615159 (3) URAD 13 27977714 27988654 N . N N . . 0.003783636 59.3 . . URB1 21 32311018 32393026 N . N N . . . . . . URB2 1 229626234 229660199 N . N N -0.406729257 24.07825433 3.34E-11 93.6 . . URGCP 7 43875894 43926411 N . N N -0.249733173 32.46512705 0.207220454 38.5 . . URGCP-MRPS24 7 43866558 43906589 N . N N 0.31158679 71.14082306 0.011551688 54.3 . . URI1 19 29923644 30016608 N . N Y -1.239675733 5.191873589 0.211667123 38.4 . . URM1 9 128371319 128392016 N . N N -0.245556279 32.71401285 0.498052547 30 . . UROC1 3 126481281 126517773 N . N N 0.383546197 75.09405568 3.36E-10 92.1 DM ?Urocanase deficiency, 276880 (3) USB1 16 57999546 58021618 N . N N 0.199188423 64.32250969 0.122774716 42 . . USF1 1 161039251 161045977 N . N Y -0.355230595 26.57290039 0.381283032 33.3 DFP {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) USH1C 11 17493895 17544416 N . N Y -0.107831816 41.59286913 2.72E-12 94.9 DM Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive 18A, 602092 (3) USH1G 17 74916084 74923256 N . N Y 0.144904459 60.59501071 0.001086219 64.4 DM Usher syndrome, type 1G, 606943 (3) USH2A 1 215622894 216423396 N . N Y 3.89262621 99.74532616 3.68E-43 100 DM Usher syndrome, type 2A, 276901 (3); Retinitis pigmentosa 39, 613809 (3) USHBP1 19 17249176 17282786 N . N Y 0.766209253 88.47022052 3.28E-13 95.7 . . USMG5 10 103389041 103396466 N Viable N Y 0.167113525 62.29669503 0.2433522 37.3 . . USP11 X 47232690 47248328 N . N Y -1.071720503 6.887769867 0.998323457 6.7 . . USP12 13 27066142 27171896 N Viable N Y -0.494115743 20.42599988 0.794991969 21.9 . . USP13 3 179652755 179789401 N . N N -0.845507056 10.66157319 2.17E-08 88 . . USP15 12 62260338 62417431 N . N N -0.749069701 12.66423569 0.990365016 9.9 DM? . USP17L1 8 7332387 7333979 N . N N . . . . . . USP17L10 4 9210657 9212608 N . N N . . . . . . USP17L11 4 9215405 9217356 N . N N . . . . . . USP17L12 4 9220152 9221744 N . N N . . . . . . USP17L13 4 9224896 9226847 N . N N . . . . . . USP17L15 4 9234385 9365080 N . N N . . . . . . USP17L17 4 9243879 9245830 N . N N . . . . . . USP17L18 4 9248630 9250581 N . N N . . . . . . USP17L19 4 9253378 9255329 N . N N . . . . . . USP17L2 8 12137168 12139077 N . N N 3.945224421 99.75690224 0.013858726 53.6 . . USP17L20 4 9258124 9260075 N . N N . . . . . . USP17L21 4 9262872 9264823 N . N N . . . . . . USP17L22 4 9267619 9269570 N . N N . . . . . . USP17L23 4 9272364 9272914 N . N N . . . . . . USP17L24 4 9325165 9327116 N . N N . . . . . . USP17L25 4 9329911 9331862 N . N N . . . . . . USP17L26 4 9334658 9336609 N . N N . . . . . . USP17L27 4 9344148 9345740 N . N N . . . . . . USP17L28 4 9348893 9350485 N . N N . . . . . . USP17L29 4 9353638 9355230 N . N N . . . . . . USP17L3 8 7976393 7977985 N . N N . . . . . . USP17L30 4 9363129 9364721 N . N N . . . . . . USP17L4 8 7337115 7338707 N . N N . . . . . . USP17L5 4 9339403 9340995 N . N N . . . . . . USP17L7 8 12132417 12134444 N . N N . . . . . . USP17L8 8 7971661 7977985 N . N N . . . . . . USP18 22 18149899 18177397 N . N Y 0.321150679 71.84696417 0.392598705 33 . . USP19 3 49108046 49120938 N . N N -0.999942291 7.860160908 0.999991981 2.4 . . USP2 11 119355215 119381726 N Viable N Y -0.2423802 32.90501823 0.185180862 39.1 . . USP20 9 129834698 129881838 N . N N -0.059136203 45.16409099 0.00188749 62.1 . . USP21 1 161159450 161165723 N . N Y -0.231201301 33.65746368 0.074651654 44.8 . . USP24 1 55066359 55215113 N . N Y -2.372646624 1.064999711 0.999999998 0.6 DFP . USP25 21 15730025 15880069 N . N Y -0.991755546 8.004861955 0.990130458 9.9 . . USP26 X 133024631 133097109 N . N N 0.614073992 84.58644441 0.01049438 54.7 DM . USP27X X 49879948 49882565 N . N N . . 0.592784999 27.6 . . USP28 11 113797874 113875570 N . N N -1.525512459 3.229727383 0.031657505 49.4 . . USP29 19 57119138 57131926 N . N N 0.239073126 66.79400359 9.29E-15 96.7 . . USP30 12 109023089 109088026 N . N N -0.370083231 25.87254732 0.309014179 35.5 DM? . USP31 16 23061406 23149270 N . N N -0.803884764 11.46032297 0.008751105 55.4 . . USP32 17 60179094 60422470 N . N N -1.842519424 2.054754876 0.999999997 0.7 . . USP33 1 77695987 77759852 N . N Y -0.757378711 12.45007814 0.996116691 7.9 . . USP34 2 61187463 61470769 N . N N -5.864561425 0.057880419 1 0.1 DM . USP35 11 78188812 78214711 N . N N 0.93719768 91.82728483 0.043478464 47.8 . . USP38 4 143184917 143223830 N Viable N Y -1.634399379 2.731955779 5.91E-05 73.4 . . USP4 3 49277831 49340712 N . N Y -0.699928248 13.92024078 6.20E-07 83.3 . . USP40 2 233475520 233566782 N . N N 0.548774111 82.38120044 1.74E-14 96.6 . . USP41 22 20350578 20390758 N . N N . . . . . . USP42 7 6104884 6161564 N . N Y 0.029139383 51.69300226 0.998681653 6.3 . . USP43 17 9644698 9729691 N . N N -0.280702041 30.60137755 0.009534304 55.1 . . USP44 12 95516560 95551490 N . N Y -0.173896395 37.15344099 1.46E-09 90.8 DM . USP45 6 99432379 99521728 N . N N 1.119832309 94.18301789 8.70E-14 96.1 FTV . USP46 4 52590972 52659335 N . N N -0.215544031 34.54882213 0.911054239 17.2 DM? . USP47 11 11841423 11959323 N Viable N Y -1.936522447 1.8232332 0.999999875 1.2 . . USP48 1 21678298 21783606 N . N N -1.040748883 7.362389304 0.999997429 2 . . USP49 6 41789896 41895361 N . N N -0.479758918 21.01638016 0.943537459 15.4 . . USP51 X 55484616 55489202 N . N N 0.391548194 75.45291428 0.912300847 17.2 . . USP53 4 119212587 119295517 N . N N 0.224067009 65.86791688 0.001053353 64.5 DM? . USP54 10 73497538 73625953 N Viable N Y -0.378764424 25.50211264 3.94E-05 74.6 DM? . USP6 17 5116438 5175034 N . N N 2.178157638 98.83081554 1.76E-18 98.3 . . USP6NL 10 11453946 11611754 N . N N -0.493659292 20.46072814 0.102392915 43 DM? . USP9X X 41085635 41236579 N . N N -2.406690156 1.047635585 1 0.3 FTV Mental retardation, X-linked 99, 300919 (3) USP9Y Y 12701231 12860839 N . N N . . 0.140701438 41.1 DM Spermatogenic failure, Y-linked, 2, 415000 (3) USPL1 13 30617693 30660770 N . N N -0.075099153 44.00648261 0.49129698 30.2 . . UST 6 148747328 149076990 N . N N 0.222654188 65.80424842 0.984203295 11.1 . . UTP11L 1 38009258 38024824 N . N N -0.113219363 41.24558662 1.27E-06 82.2 . . UTP14A X 129906121 129929761 N . N N 0.58391 83.64878162 0.999629563 4.9 . . UTP14C 13 52024691 52033600 N . N N 0.488434514 80.02546738 0.001178362 64.1 . . UTP15 5 73565443 73583377 N . N N 0.727428919 87.53255774 0.985835503 10.8 . . UTP18 17 51260528 51297936 N . N N -0.613054008 16.39173468 0.415444933 32.4 . . UTP20 12 101280109 101386616 N . N N 0.625220845 84.91057475 0.170231063 39.7 . . UTP23 8 116766503 116849463 N . N N 0.26384649 68.31047057 0.033108947 49.2 . . UTP3 4 70688479 70690551 N . N N -0.084968981 43.20194478 0.002776963 60.7 . . UTP6 17 31860899 31901765 N . N N 0.247227331 67.29177519 4.83E-06 79.6 . . UTRN 6 144285701 144853034 N . N Y -1.890771553 1.904265787 2.97E-09 90.2 DM? . UTS2 1 7843083 7853512 N . N Y 0.74788121 88.03611738 0.151041459 40.5 DP . UTS2B 3 191267168 191330536 N Viable N Y 0.593989004 83.93818371 0.011039991 54.5 . . UTS2R 17 82374230 82375586 N . N Y . . 1.80E-05 76.5 . . UTY Y 13248379 13480673 N . N Y . . 0.632058104 26.6 . . UVRAG 11 75815167 76143195 N . N N -0.548244002 18.2728483 0.8586025 19.6 . . UVSSA 4 1347266 1388049 N . N N 2.024734091 98.6050819 8.89E-14 96.1 DM UV-sensitive syndrome 3, 614640 (3) UXT X 47651798 47659161 N . N N 0.008591214 50.15917115 0.836315941 20.4 . . VAMP3 1 7771269 7781432 N . N Y -0.118961255 40.82305956 0.054263067 46.5 . . VAMP4 1 171700160 171742247 N . N N 0.002044933 49.63824738 0.919995934 16.7 . . VAMP5 2 85584408 85593412 N . N N 0.147473793 60.82653238 0.051619746 46.8 . . VAMP7 X 155881293 155943769 N . N Y 0.484307457 79.86340221 0.004631963 58.5 DP . VANGL1 1 115641953 115698224 N . N Y -0.431870058 23.10007524 0.533615186 29 DM Caudal regression syndrome, 600145 (3); {Neural tube defects, susceptibility to}, 182940 (3) VAPA 18 9914002 9960021 N . N N -0.265193969 31.55061643 0.123795283 41.9 . . VAPB 20 58389122 58451101 N . N Y -0.078575026 43.76338485 0.73972383 23.5 DM Amyotrophic lateral sclerosis 8, 608627 (3); Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) VARS 6 31777518 31795953 N . N N -0.311376616 28.82444869 0.679794135 25.2 . . VARS2 6 30908242 30926459 N . N N 0.741943324 87.9145685 4.22E-14 96.4 . Combined oxidative phosphorylation deficiency 20, 615917 (3) VASH1 14 76762189 76783015 N . N Y -0.327132777 27.8867859 0.730608114 23.7 . . VASH2 1 212950520 212992037 N . N Y -0.119765437 40.78833131 0.819582565 21 . . VASN 16 4371848 4383528 N . N Y 0.644086851 85.4835909 0.053807166 46.6 . . VASP 19 45506579 45526983 N . N Y -0.081293491 43.49713492 0.583670616 27.9 . . VAT1 17 43014605 43025123 N . N N 0.063177242 54.40180587 0.019956013 51.7 . . VAT1L 16 77788530 77980107 N . N Y -0.265997742 31.51588818 1.90E-05 76.4 . . VAV2 9 133761894 133992604 N . N Y -0.810570593 11.36192626 0.00251877 61.1 . . VAV3 1 107571160 107965144 N . N Y -0.273198957 31.08757307 0.020059323 51.7 DM? . VAX2 2 70900590 70933446 N . N Y 0.821148306 89.54679632 0.315038571 35.3 . . VBP1 X 155197007 155239817 N . N N 0.038603643 52.45123575 0.822547587 20.9 . . VCPIP1 8 66628487 66667217 N . N N -1.719819552 2.373097181 0.999341018 5.5 . . VCPKMT 14 50108632 50116600 N Viable N Y 0.108195341 57.87463101 2.62E-08 87.8 . . VCX X 7842262 7844143 N . N N . . 0.577712383 28 . . VCX2 X 8169944 8171267 N . N N . . 0.103436662 42.9 . . VCX3A X 6533618 6535118 N . N N . . 0.506384678 29.8 DM . VCX3B X 8464830 8466510 N . N N . . 0.2213496 38 . . VCY Y 13985772 13986513 N . N N . . . . . . VCY1B Y 14056217 14056958 N . N N . . . . . . VDAC2 10 75210154 75231448 N . N N -0.10763024 41.63338543 0.819301261 21 . . VDAC3 8 42391624 42405897 N . N Y -0.334635847 27.50477513 0.970696229 12.9 . . VDR 12 47841537 47943048 N . N Y -0.008025521 48.81634543 0.392125212 33 DM Rickets, vitamin D-resistant, type IIA, 277440 (3); ?Osteoporosis, involutional, 166710 (1) VEGFB 11 64234538 64238793 N Viable N Y 0.858665982 90.35133414 1.52E-06 81.9 . . VENTX 10 133237404 133241929 N . N N 0.837111437 89.94617121 3.99E-09 89.8 . . VEPH1 3 157259742 157533619 N . N Y 0.890094983 90.93013833 9.33E-12 94.3 . . VGLL1 X 136532152 136556807 N . N N 0.528370887 81.58245066 0.449924752 31.4 . . VGLL2 6 117265558 117273565 N . N N 0.451425935 78.40481565 0.860675375 19.5 . . VGLL3 3 86937969 86991119 N . N N -0.15536658 38.37471783 0.336018872 34.7 . . VGLL4 3 11556070 11771350 N . N N 0.238616903 66.76506338 0.469478553 30.9 . . VHLL 1 156298624 156299299 N . N N . . 0.002900573 60.5 . . VIL1 2 218419092 218453295 N . N Y 0.027073687 51.58302946 1.21E-05 77.6 . Cholestasis, progressive canalicular (1) VILL 3 37988059 38007188 N . N N -0.410020958 23.9509174 3.01E-12 94.9 . . VIM 10 17228259 17237593 N . N Y -0.455487979 22.06401574 0.959386089 14 DM Cataract 30, pulverulent, 116300 (3) VIMP 15 101270817 101277500 N . N N 0.573390777 83.20310239 5.00E-11 93.4 DFP . VIP 6 152750798 152759765 N . N Y -0.018550615 48.01759565 0.005828944 57.4 DM? . VIPAS39 14 77426675 77457952 N . N N -0.590544433 17.03999537 0.000534939 66.8 . Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) VIPR2 7 159028175 159144957 N . N Y 0.644892524 85.51253111 9.34E-07 82.6 DM? . VIT 2 36696690 36814792 N . N N -0.046043433 46.13069399 4.91E-22 99 . . VKORC1L1 7 65873267 65959563 N . N N -0.019507464 47.94813914 0.851484219 19.9 . . VLDLR 9 2621834 2660053 N . N Y -0.503884612 20.03241303 0.000865741 65.2 DM Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) VMA21 X 151396515 151409364 N . N N 0.303127316 70.68356775 0.651805242 26 DM Myopathy, X-linked, with excessive autophagy, 310440 (3) VMAC 19 5904858 5910853 N . N N . . 0.023464709 50.8 . . VMO1 17 4785285 4786433 N . N N -0.174200506 37.13028882 0.000437154 67.4 . . VMP1 17 59707192 59842255 N . N N -0.49315829 20.47809226 0.930655518 16.1 . . VN1R1 19 57454790 57457142 N . N N 0.882132724 90.75070904 0.310171245 35.5 . . VN1R2 19 53258292 53261837 N . N N 0.60163757 84.14655322 0.000121566 71.3 . . VN1R4 19 53266676 53267723 N . N N 0.829607924 89.778318 0.261583303 36.7 . . VNN1 6 132681590 132714049 N . N Y 0.741629376 87.90299242 2.35E-07 84.9 DP [High density lipoprotein cholesterol level QTL 8] (3) VNN2 6 132743870 132763459 N . N N -0.053848657 45.52873763 1.02E-08 88.9 . . VNN3 6 132722787 132734765 N . N N . . 0.034731445 49 . . VOPP1 7 55436056 55572988 N . N N 0.337921524 72.70938242 0.125315641 41.8 . . VPREB1 22 22244675 22245515 N . N Y 0.649380445 85.58198761 0.00134359 63.6 DFP . VPREB3 22 23752743 23754468 N . N N 0.512408218 80.9804943 0.016148567 52.8 . . VPS11 11 119067692 119081978 N . N N . . 0.223659482 37.9 . . VPS13A 9 77177353 77421541 N Viable N Y -2.891648909 0.642472652 0.004238311 58.9 DM Choreoacanthocytosis, 200150 (3) VPS13B 8 99013266 99877580 N . N N -3.337525389 0.445679227 9.81E-27 99.5 DM Cohen syndrome, 216550 (3) VPS13C 15 61852389 62060473 N Viable N Y -3.156315741 0.532499855 1.86E-37 99.9 . . VPS16 20 2840703 2866732 N . N N -0.132404112 39.91433698 2.29E-05 75.9 . . VPS26B 11 134224645 134247792 N . N N -0.695744556 14.07072987 0.970719438 12.9 . . VPS28 8 144423601 144428563 N . N N -0.166697481 37.63384847 0.115974874 42.3 . . VPS29 12 110491097 110502117 N . N N -0.073942787 44.13960757 0.934744448 15.9 . . VPS33A 12 122229564 122266521 N . N N -0.98071975 8.23059559 0.687968695 24.9 . . VPS36 13 52412602 52450628 N . N N -0.650725068 15.36146322 0.100608361 43.1 . . VPS37A 8 17246571 17302427 N . N N 0.043538553 52.85061064 0.53495834 29 DM Spastic paraplegia 53, autosomal recessive, 614898 (3) VPS37B 12 122865328 122896444 N . N N 0.253623009 67.679574 0.676809637 25.3 . . VPS37C 11 61130256 61161617 N . N N 0.805185239 89.25160618 0.197171488 38.8 . . VPS39 15 42158701 42208316 N . N N -0.754509349 12.48480639 0.000738265 65.8 DM? . VPS45 1 150067293 150145327 N . N N -0.029577629 47.32881866 0.00030557 68.6 DM Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) VPS4B 18 63389190 63422483 N . N N 0.116655069 58.50552758 0.213873857 38.3 . . VPS50 7 93232340 93361121 N . N N . . . . . . VPS8 3 184812143 185052614 N . N N 0.071287528 54.95745789 3.62E-06 80.2 . . VPS9D1 16 89707134 89720986 N . N N -0.128878445 40.18058691 0.001766484 62.4 . . VRK1 14 96797304 96931722 N . N N -0.338310159 27.33692192 0.042898405 47.9 DM Pontocerebellar hypoplasia type 1A, 607596 (3) VRK2 2 57907651 58159920 N . N N 0.511748286 80.94576605 1.22E-08 88.7 . . VRK3 19 49976467 50025946 N . N N 0.405747972 76.13590322 1.57E-06 81.8 . . VRTN 14 74303069 74360008 N . N N -0.246056484 32.69086068 0.858358429 19.6 . . VSIG1 X 108044970 108079184 N . N Y -0.03627546 46.84841118 0.00569225 57.5 DM? . VSIG10 12 118063593 118136026 N . N N 0.110259893 58.00196793 5.55E-07 83.6 FTV . VSIG10L 19 51331536 51342124 N . N N . . . . . . VSIG2 11 124747472 124752238 N . N N 0.142990968 60.43294553 0.000163566 70.4 . . VSIG4 X 66021738 66040125 N . N Y 0.680495985 86.43861782 0.000110511 71.5 DM? . VSIG8 1 159854316 159862657 N Viable N Y -0.30079494 29.40904092 0.003159998 60.1 . . VSNL1 2 17539126 17657018 N . N N -0.112415198 41.29189095 0.744967825 23.3 . . VSTM1 19 54040825 54063953 N . N N 0.062220491 54.30340916 4.39E-09 89.7 . . VSTM2A 7 54542325 54571080 N . N N 0.113784984 58.30294611 0.107352766 42.7 . . VSTM2B 19 29526499 29564479 N . N N . . . . . . VSTM2L 20 37903104 37945350 N . N N 0.513364317 81.01522255 0.362003649 33.9 . . VSTM4 10 49014245 49115509 N . N N 0.70396241 86.97690571 0.155399626 40.4 . . VSTM5 11 93818232 93850531 N . N N . . . . . . VSX1 20 25070885 25082365 N . N Y . . 0.006599733 56.8 DM Keratoconus 1, 148300 (3); Corneal dystrophy, posterior polymorphous, 1, 122000 (3); Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3) VTA1 6 142147162 142224689 N . N N 0.109152052 57.94408752 0.082406141 44.3 . . VTCN1 1 117143587 117210960 N . N Y 0.274219089 68.94136714 7.29E-09 89.3 . . VTI1A 10 112446998 112818744 N Viable N Y -0.046649065 46.09017769 0.413424038 32.4 . . VTI1B 14 67647075 67674831 N . N Y 0.400815894 75.88122938 0.209578769 38.5 . . VTN 17 28367276 28373091 N . N Y -0.033253349 47.06256873 1.14E-09 91.1 DP . VWA1 1 1434861 1442882 N . N Y 0.224567453 65.92000926 0.03319976 49.2 . . VWA2 10 114239330 114291513 N . N N 1.413607369 96.45771835 2.58E-13 95.8 . . VWA3A 16 22092538 22156966 N Viable N Y 1.251395399 95.43902298 1.84E-20 98.8 . . VWA3B 2 98087116 98313299 N . N N 1.600797228 97.4995659 3.27E-18 98.2 DM? . VWA5A 11 124115362 124147721 N . N N 0.637695968 85.29837356 1.89E-15 97.2 . . VWA5B1 1 20290919 20354894 N . N N . . . . . . VWA5B2 3 184230429 184242329 N . N N . . 0.354623648 34 . . VWA7 6 31765590 31777294 N . N N 1.371293822 96.22619668 4.29E-07 84 . . VWA8 13 41566837 41961120 N Viable N Y -0.460900613 21.86722232 2.93E-40 99.9 FTV . VWA9 15 65578753 65611289 N . N N -0.405837712 24.10719454 0.003093813 60.2 . . VWC2 7 49773661 49921950 N . N N . . 0.79516087 21.8 . . VWC2L 2 214411065 214578959 N . N N 0.200952107 64.44405857 0.612117521 27.1 . . VWCE 11 61258286 61295424 N . N N -0.472915409 21.34051051 5.90E-13 95.5 . . VWDE 7 12330885 12403941 N . N N . . . . . . VWF 12 5948874 6124770 N . N Y 1.570969151 97.3201366 1.52E-11 94.1 DM von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3) WAC 10 28532493 28623112 N . N N -0.400095467 24.4197488 0.999891943 3.8 DM? . WAS X 48676596 48691427 N . N Y 0.179399332 63.14753719 0.991202084 9.7 DM Wiskott-Aldrich syndrome, 301000 (3); Thrombocytopenia, X-linked, 313900 (3); Neutropenia, severe congenital, X-linked, 300299 (3); Thrombocytopenia, X-linked, intermittent, 313900 (3) WASF3 13 26557703 26688948 N . N N 0.011764461 50.40805695 0.960588202 13.9 DM? . WASH1 9 14521 29739 N . N N . . . . . . WBP1 2 74458329 74460891 N . N N 0.594134289 83.9497598 0.000303097 68.6 . . WBP11 12 14784579 14803540 N . N N -0.682497233 14.4469526 0.999928146 3.5 . . WBP1L 10 102743970 102816267 N . N N 0.261126067 68.10210106 0.909387314 17.3 . . WBP2 17 75845699 75856507 N . N N -0.144188409 39.10979915 0.089618233 43.8 . . WBP2NL 22 41998725 42058456 N . N N 0.838067604 89.96932338 2.07E-09 90.5 . . WBP4 13 41061274 41084006 N . N N -0.055913898 45.41297679 0.000482126 67.1 . . WBP5 X 103356445 103358469 N . N Y 0.08362237 55.98772935 0.152692408 40.5 . . WBSCR16 7 75027122 75074228 N . N N . . 0.000647048 66.2 . . WBSCR17 7 71132169 71713600 N Viable N Y -1.009777476 7.738612028 0.095617428 43.4 . . WBSCR22 7 73683025 73705161 N . N N -0.528759206 19.07738612 0.52115194 29.4 . . WBSCR27 7 73834590 73842535 N . N N 1.185151962 94.91231117 0.067911663 45.2 . . WBSCR28 7 73861159 73865893 N . N N 0.883088819 90.78543729 1.59E-06 81.8 . . WDFY1 2 223855716 223945387 N . N N -0.319475863 28.315101 1.69E-05 76.7 . . WDFY2 13 51584455 51767707 N . N N -0.115937794 41.07194536 0.003595002 59.6 . . WDFY3 4 84669610 84966391 N . N N -4.683342707 0.12154888 1 0.1 DM? . WDFY4 10 48684876 48982956 N . N N . . . . DFP . WDHD1 14 54938950 55027105 N . N N -0.062812562 44.91520519 1.82E-11 94 . . WDR11 10 120851175 120909524 N . N N -1.219603939 5.382878972 0.070328055 45 DM Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3) WDR13 X 48590042 48608867 N . N N 0.045300934 53.00688777 0.940346119 15.5 DM . WDR17 4 176065834 176182818 N . N N 0.07144044 54.96324593 7.02E-16 97.4 . . WDR18 19 984271 998438 N . N N -0.003392975 49.1578399 0.90160756 17.7 . . WDR20 14 102139503 102224847 N . N N -0.626146471 15.99814783 0.939272873 15.6 . . WDR24 16 684622 690444 N . N N -1.098720632 6.59257973 0.004702416 58.4 . . WDR25 14 100376418 100530303 N . N N -0.128878445 40.18058691 0.04222611 48 . . WDR26 1 224385143 224437033 N . N N -0.492200886 20.50124443 0.999677391 4.7 . . WDR27 6 169457212 169702048 N . N N 2.863556128 99.43855994 2.40E-15 97.1 . . WDR31 9 113313222 113340298 N . N N -0.169415642 37.44284309 5.54E-06 79.3 DM? . WDR33 2 127701022 127811187 N . N N -2.091288093 1.475950686 0.999997733 2 . . WDR34 9 128633661 128656787 N . N N -0.296814857 29.62898651 3.70E-05 74.7 . Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) WDR37 10 1049538 1132297 N . N Y -1.075548672 6.858829658 0.996766803 7.7 . . WDR38 9 124853417 124857890 N . N N 0.930022697 91.72888812 0.000345295 68.2 . . WDR4 21 42843094 42879568 N . N N 0.200295721 64.41511837 5.34E-06 79.4 DM? . WDR41 5 77425970 77620611 N . N N 0.548307322 82.3754124 2.52E-06 80.8 . . WDR43 2 28894643 28948222 N . N N 0.410380843 76.3674249 0.99894244 6 . . WDR44 X 118346073 118449961 N . N N 0.279958701 69.3233779 0.999844186 4.2 . . WDR45 X 49074433 49101170 N . N N 0.028381319 51.66985009 0.965710816 13.4 DM Neurodegeneration with brain iron accululation 5, 300894 (3) WDR45B 17 82614562 82648553 N . N N -0.467776875 21.53730393 0.637042299 26.4 . . WDR46 6 33279108 33289527 N . N N -0.517274597 19.5577936 8.42E-06 78.5 . . WDR47 1 108970214 109042113 N . N Y -0.946878712 8.763095445 0.905661618 17.6 . . WDR49 3 167478684 167653983 N . N N 0.71544464 87.28367193 2.30E-12 95 . . WDR5 9 134135365 134159968 N . N N -0.456600078 21.99455924 0.99870216 6.3 DM . WDR53 3 196554177 196568674 N . N N 0.185138978 63.52375991 0.000341189 68.3 . . WDR54 2 74421678 74425755 N . N N 0.210518064 65.10968339 2.40E-06 80.9 . . WDR5B 3 122412332 122416051 N . N N -0.125354587 40.43526075 5.47E-05 73.7 . . WDR6 3 49007062 49015953 N . N N -0.407009098 24.0608902 9.20E-07 82.6 . . WDR60 7 158856578 158956747 N . N N 0.543984882 82.20177114 2.01E-07 85.2 . Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3) WDR61 15 78277835 78299794 N . N N -0.312126643 28.79550848 0.089774579 43.8 . . WDR62 19 36054881 36105106 N . N N -0.348608857 26.85651444 3.70E-13 95.7 DM Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) WDR63 1 84999147 85133138 N . N N -0.782610543 11.92915437 0.000118222 71.4 . . WDR64 1 241652278 241802133 N . N N . . 4.90E-15 96.9 . . WDR66 12 121917862 122003927 N . N N 0.467196511 79.18041327 1.25E-10 92.8 DM? . WDR7 18 56651343 57036606 N . N N -1.454028282 3.623314233 0.999999984 0.9 . . WDR70 5 37379212 37753435 N . N N -1.157132886 6.01377554 0.802235273 21.6 . . WDR72 15 53513741 53762878 N . N Y -0.197870785 35.6080338 1.62E-16 97.6 DM Amelogenesis imperfecta, type IIA3, 613211 (3) WDR73 15 84639281 84654343 N . N N 0.164543267 62.12884181 7.90E-06 78.7 . Galloway-Mowat syndrome, 251300 (3) WDR74 11 62832342 62841809 N . N N 0.049127994 53.35995833 2.46E-08 87.9 . . WDR75 2 189441433 189475565 N . N N 0.116957788 58.52289171 0.566494634 28.3 . . WDR76 15 43826963 43868419 N . N N -0.143884421 39.12716328 0.002305191 61.4 . . WDR78 1 66812885 66924887 N . N N 0.016700113 50.79585576 7.88E-11 93.1 . . WDR81 17 1716523 1738599 N . N N . . 1.26E-05 77.5 DM Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) WDR82 3 52254421 52288020 N . N N -0.277483031 30.77501881 0.923062144 16.5 . . WDR83OS 19 12668071 12671356 N . N N 0.14651721 60.7454998 0.001766861 62.4 . . WDR86 7 151375909 151410727 N . N N 0.466579567 79.16883718 3.31E-11 93.6 . . WDR87 19 37884823 37906677 N . N N . . . . . . WDR88 19 33132090 33175795 N . N N 0.063328449 54.40759391 3.30E-08 87.5 . . WDR89 14 63597039 63641861 N . N N -0.171329534 37.29814204 0.000198089 69.8 . . WDR90 16 649311 667833 N . N N 1.007578036 92.86334433 4.02E-46 100 . . WDR91 7 135183839 135211534 N . N N -1.207599338 5.492851768 0.00140854 63.3 . . WDR92 2 68122936 68157560 N . N N 0.185138978 63.52375991 0.805659459 21.4 . . WDR93 15 89690797 89743638 N . N N 0.185441616 63.55270012 6.27E-15 96.8 . . WDYHV1 8 123416725 123467230 N . N N 0.217871355 65.53221045 0.000384005 67.9 . . WEE2 7 141708353 141731271 N . N N -0.162717545 37.82485385 0.000967997 64.8 . . WFDC1 16 84294646 84329851 N Viable N Y 0.972176436 92.35399664 2.97E-06 80.6 . . WFDC10A 20 45629526 45631196 N . N N 0.411041265 76.39636511 0.274663286 36.4 . . WFDC10B 20 45684653 45705019 N . N N 0.161523449 61.87995601 0.014843387 53.2 . . WFDC11 20 45648563 45670270 N . N N 0.320046263 71.77750767 0.003350138 59.9 . . WFDC12 20 45123425 45124465 N . N N 0.510496156 80.89367367 0.05685317 46.3 . . WFDC13 20 45702016 45708817 N . N N 0.160566904 61.79892342 0.252946357 37 . . WFDC2 20 45469706 45481532 N . N N -0.050476626 45.73710714 0.634143545 26.5 . . WFDC3 20 45747944 45791932 N . N N 0.416778578 76.67419112 0.019237532 51.9 . . WFDC5 20 45109452 45115172 N . N N 0.041473905 52.65960526 5.60E-05 73.6 . . WFDC6 20 45534196 45539495 N . N N 0.335052688 72.57046941 0.054913983 46.4 . . WFDC8 20 45551153 45579326 N . N N 0.167262974 62.32563524 4.97E-06 79.6 . . WFDC9 20 45607939 45631268 N . N N 0.335052688 72.57046941 0.010811346 54.6 . . WFIKKN1 16 629239 634116 N . N Y 0.76318244 88.40655206 4.90E-08 87 . . WFIKKN2 17 50834650 50842348 N . N Y -0.592157754 16.95896278 0.025878488 50.4 . . WHAMM 15 82809628 82836108 N . N N 1.458316765 96.75290849 1.04E-05 78 . . WI2-2610K16.2 9 136280942 136306901 N . N N . . . . . . WI2-3308P17.2 1 13049476 13155947 N . N N . . . . . . WIBG 12 55901413 55932618 N . N N 0.033970832 52.15025757 0.862135667 19.4 . . WIF1 12 65050626 65121566 N . N Y -0.125354587 40.43526075 2.42E-05 75.7 . . WIPF1 2 174559572 174682916 N . N Y -0.452617031 22.15662441 0.944313925 15.3 DM ?Wiskott-Aldrich syndrome 2, 614493 (3) WIPF2 17 40219304 40284136 N . N N -0.119613321 40.80569543 0.366730469 33.7 . . WIPF3 7 29806486 29917066 N . N Y . . 0.000296999 68.7 . . WIPI1 17 68420948 68457513 N . N N -0.063416885 44.9036291 0.523500461 29.3 . . WIPI2 7 5190188 5233826 N . N N -0.210606002 34.88452856 0.093680612 43.5 . . WISP1 8 133191039 133230344 N . N Y 0.563313685 82.85003183 0.00332828 59.9 . . WISP2 20 44714844 44728509 N Viable N Y 0.211324798 65.16756381 0.001690793 62.5 . . WISP3 6 112054072 112070969 N . N Y 0.353076131 73.59495283 0.008090856 55.8 DM Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3); Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3) WIZ 19 15419980 15449951 N . N N -0.647549733 15.45985993 0.998940437 6 . . WNK2 9 93184916 93320572 N . N N . . 0.79276208 21.9 . . WNK3 X 54192823 54358642 N . N Y -0.300341933 29.43798113 0.999998367 1.9 DM? . WNK4 17 42780678 42796936 N . N Y 0.609921902 84.47068357 1.83E-13 95.9 DM Pseudohypoaldosteronism, type IIB, 614491 (3) WNT10A 2 218880363 218899581 N Viable N Y 0.794959429 89.10690513 0.010169289 54.9 DM Odontoonychodermal dysplasia, 257980 (3); Schopf-Schulz-Passarge syndrome, 224750 (3); Tooth agenesis, selective, 4, 150400 (3) WNT10B 12 48965340 48971763 N Viable N Y -0.193838554 35.89164786 0.003998126 59.1 DM Split-hand/foot malformation 6, 225300 (3) WNT11 11 76186325 76210736 Y Viable N Y -0.203255573 35.26075129 0.118580135 42.2 . . WNT16 7 121325367 121341104 N Viable N Y -0.447984887 22.38235805 0.000185159 70.1 DP . WNT2B 1 112466541 112530165 N Viable N Y -0.652484268 15.30937084 0.285537291 36.1 . . WNT5B 12 1529891 1647243 N Viable N Y -0.230396616 33.72113214 0.835340309 20.4 DP . WNT8A 5 138083892 138092365 N . N Y 0.314604136 71.36076865 0.875728926 18.8 DM . WNT8B 10 100463041 100483744 N . N N -0.204212609 35.19708283 0.485778277 30.4 . . WRAP73 1 3630767 3652761 N . N N -0.114829257 41.15876599 0.02692199 50.2 . . WRB 21 39380244 39428528 N . N N 0.103411903 57.457892 0.059159107 46.1 . . WRNIP1 6 2765414 2786952 N . N N 0.077529154 55.49574579 0.637334638 26.4 . . WSB1 17 27294076 27315926 N . N N -0.42451861 23.36632517 0.92319404 16.5 . . WSB2 12 118032694 118062430 N Viable N Y -0.222893607 34.16102333 0.503215469 29.9 . . WSCD1 17 5772234 6124427 N . N N 0.049430919 53.36574637 2.91E-06 80.6 . . WSCD2 12 108129471 108250537 N . N N -0.251796722 32.34936621 0.494025684 30.1 . . WWC1 5 168291651 168472303 N . N Y -1.141697857 6.129536378 0.018384506 52.1 DFP [Memory, enhanced, QTL], 615602 (3) WWC2 4 183099293 183320777 N . N N -0.105111665 41.76651039 2.48E-05 75.7 DM? . WWC3 X 10015562 10144478 N . N N 0.82910958 89.76095387 0.999632961 4.9 DM? . WWP1 8 86342738 86478420 N . N Y -0.915907936 9.289807258 0.956844284 14.2 . . WWP2 16 69762306 69941741 N . N N -0.351907655 26.66550906 0.977902374 12.1 . . XAF1 17 6755447 6775647 N . N N 1.368119208 96.20883255 2.07E-08 88.1 . . XAGE1A X 52495676 52500812 N . N N . . . . . . XAGE1B X 52512077 52520803 N . N N . . . . . . XAGE2 X 52369030 52375680 N . N N . . . . . . XAGE3 X 52862525 52868068 N . N N 0.206542259 64.76240088 0.088580304 43.9 . . XAGE5 X 52812204 52818301 N . N N 0.191535973 63.89419459 0.000119391 71.3 . . XCL1 1 168576473 168582077 N . N Y 0.397947105 75.72495225 0.088160228 43.9 . . XCL2 1 168540765 168543997 N . N N 0.268480327 68.6056607 0.087432539 44 . . XCR1 3 46017024 46027742 N . N Y 0.132617807 59.62261967 0.09785415 43.3 . . XG X 2752050 2815927 N . N N 0.027424541 51.61775771 0.013679982 53.6 . . XIRP1 3 39183210 39192596 N . N Y 2.262436038 98.95815246 2.18E-17 97.9 . . XK X 37685759 37732130 N . N Y 0.04243066 52.74063784 0.869601996 19.1 DM McLeod syndrome with or without chronic granulomatous disease, 300842 (3) XKR3 22 16783412 16821699 N . N N 0.453338311 78.48584824 0.00085456 65.3 . . XKR4 8 55102389 55542054 N . N N -1.299707865 4.705678069 0.97759169 12.1 DM . XKR5 8 6808517 6835644 N . N N . . . . . . XKR6 8 10896045 11201366 N . N N -0.838153116 10.79469815 0.956776701 14.2 . . XKR7 20 31968002 32003387 N . N N -0.470494176 21.42154309 0.923951243 16.4 . . XKR8 1 27959462 27968096 N . N N -0.15536658 38.37471783 1.43E-05 77.2 . . XKR9 8 70669365 70790371 N . N N 0.303424512 70.72408404 3.61E-08 87.4 . . XKRX X 100913445 100929433 N Viable N Y 0.473126302 79.46402732 0.000300218 68.7 . . XPC 3 14145147 14178783 N . N Y 0.978383776 92.45239336 1.32E-10 92.8 DM Xeroderma pigmentosum, group C, 278720 (3) XPNPEP2 X 129738974 129769538 N . N N -0.156171384 38.30526133 1.69E-06 81.6 FP {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3) XPNPEP3 22 40857077 40932815 N . N N -0.968583512 8.404236847 8.88E-06 78.4 DM Nephronophthisis-like nephropathy 1, 613159 (3) XPO1 2 61477849 61538626 N . N N -1.265059143 5.000868206 0.999999567 1.4 DM? . XPO4 13 20777329 20903048 N . N N -1.469435731 3.507553395 0.999999613 1.4 . . XPO5 6 43522330 43576075 N . N N -0.984251786 8.155351045 0.999999369 1.6 DM? . XPO6 16 28097979 28211920 N . N N -1.135284787 6.181628755 0.999999448 1.5 . . XPO7 8 21919671 22006585 N . N N -1.55389815 3.050298084 0.999999311 1.6 . . XPR1 1 180632004 180890251 N . N N -1.129989454 6.2568733 0.998119588 6.8 . Basal ganglia calcification, idiopathic, 6, 616413 (3) XRCC6 22 41621119 41664048 N . N Y -1.033398927 7.426057765 0.996855853 7.6 DFP . XRCC6BP1 12 57941541 57957269 N . N N 0.309821667 71.05979047 0.00463367 58.5 . . XRN1 3 142306607 142448062 N . N N -1.071168769 6.893557909 0.995837599 8.1 . . XRN2 20 21303304 21389827 N . N N -1.187955601 5.695433235 0.813170186 21.2 . . XRRA1 11 74807739 74949200 N . N N 0.985724572 92.60867049 4.25E-05 74.3 . . XXbac-B562F10.12 22 20429241 20446620 N . N N . . . . . . XXbac-BPG116M5.17 6 31927698 31952048 N . N N . . . . . . XXbac-BPG181M17.5 6 32937364 32953122 N . N N . . . . . . XXbac-BPG246D15.9 6 32813767 32838822 N . N N . . . . . . XXbac-BPG32J3.19 6 31706904 31717918 N . N N . . . . . . XXbac-BPG32J3.20 6 31686962 31714072 N . N N . . . . . . XXcos-LUCA11.5 3 50350892 50367923 N . N N . . 0.206890279 38.5 . . XXYLT1 3 195068279 195271167 N . N Y 0.389635172 75.36030561 0.051603507 46.8 . . XYLB 3 38346760 38421348 N . N Y 0.507115742 80.74897262 2.63E-13 95.8 . . XYLT2 17 50346092 50363138 N . N Y -0.478652896 21.05689645 0.337133945 34.7 DP {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3); Spondyloocular syndrome, 605822 (3) YAF2 12 42157104 42238349 N . N N -0.052390454 45.59819413 0.842513636 20.2 . . YARS2 12 32727490 32755902 N . N N -0.416058551 23.66730335 6.88E-06 79 DM Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) YBEY 21 46286337 46297751 N . N N -0.057022786 45.34352029 0.000726358 65.8 . . YBX2 17 7288252 7294615 N . N Y 0.160716564 61.81628755 0.968725623 13.1 DM? . YBX3 12 10699089 10723312 N . N Y 0.825929637 89.67413324 0.006628067 56.8 . . YDJC 22 21628089 21630064 N . N Y . . 0.002150464 61.6 DP . YEATS2 3 183697818 183812625 N . N N -0.393771649 24.69178677 0.999977829 2.9 . . YEATS4 12 69359703 69390796 N . N N -0.072985841 44.23221624 0.098738789 43.2 . . YES1 18 721588 812546 N . N Y -0.023031474 47.74555768 0.046391622 47.4 . . YIF1A 11 66284580 66289170 N . N N 0.58199694 83.58511316 2.08E-09 90.5 . . YIF1B 19 38305104 38317273 N . N N -0.482783102 20.8427389 0.037524214 48.6 . . YIPF1 1 53851719 53889834 N . N Y 0.283635266 69.52017133 0.017379324 52.3 . . YIPF2 19 10922185 10928681 N . N N 1.682499319 97.84684841 0.001099175 64.3 . . YIPF3 6 43511827 43516990 N . N N -0.532433342 18.88638074 0.812100974 21.2 . . YIPF4 2 32277910 32316594 N . N N 0.180355903 63.21120565 0.019788591 51.8 . . YIPF6 X 68498323 68537285 N . N N 0.335052688 72.57046941 0.571047385 28.2 . . YIPF7 4 44622065 44678556 N . N N 0.469300995 79.2961741 2.38E-05 75.8 . . YJEFN3 19 19528861 19537581 N . N N 0.388678713 75.30821323 2.64E-06 80.7 . . YKT6 7 44200968 44214294 N . N N 0.110914976 58.05984835 0.852902233 19.8 . . YLPM1 14 74763366 74859435 N . N N -2.178173208 1.319673554 0.999933059 3.4 FTV . YME1L1 10 27110112 27155266 N . N N -0.837196214 10.83521445 0.994242145 8.8 . . YOD1 1 207043849 207052980 N . N N -0.521256062 19.41309255 0.543401294 28.8 . . YPEL1 22 21697544 21735834 N . N N -0.052390454 45.59819413 0.224430518 37.9 . . YPEL2 17 59331689 59401729 N . N N 0.015137522 50.6627308 0.928981264 16.2 . . YPEL3 16 30092314 30096915 N Viable N Y -0.035470476 46.91207964 0.122709139 42 . . YPEL4 11 57645087 57649944 N . N N 0.061112993 54.1992244 0.805554819 21.4 . . YPEL5 2 30146941 30160533 N . N N -0.022378042 47.78028593 0.799401084 21.7 . . YRDC 1 37802944 37808185 N . N N -0.011047557 48.60797592 0.133395608 41.4 . . YTHDC1 4 68310387 68350089 N . N N -0.520145081 19.48254905 0.999999899 1.1 . . YTHDC2 5 113513683 113595285 N . N N -1.18373607 5.74173757 0.999999572 1.4 . . YTHDF1 20 63195429 63216234 N . N N -0.402814388 24.22295537 0.983709939 11.1 . . YTHDF2 1 28736621 28769775 N . N N -0.833520891 10.91045899 0.991165728 9.7 FP . YTHDF3 8 63168553 63212786 N . N N . . 0.975545265 12.4 . . YWHAB 20 44885676 44908532 N . N N -0.094538075 42.4726515 0.938360894 15.7 . . YWHAG 7 76326794 76359031 N . N Y -0.404078275 24.15349887 0.937613569 15.7 . . YWHAH 22 31944461 31957603 N . N N -0.171482763 37.26341379 0.555591182 28.5 . . YWHAZ 8 100916525 100953388 N . N N -0.194949121 35.83376744 0.817170005 21.1 . . YY1AP1 1 155659443 155689000 N . N N -0.616434641 16.28754992 0.000145221 70.7 . . YY2 X 21855987 21858727 N . N N -0.498746657 20.24078254 0.383414003 33.2 . . ZACN 17 76071961 76083666 N . N N 0.748175766 88.07084563 1.96E-15 97.1 FTV . ZADH2 18 75195108 75209348 N . N N -0.144992854 39.06349482 0.000446821 67.4 . . ZAN 7 100733626 100797797 N . N Y . . 1.56E-43 100 DM? . ZAP70 2 97713560 97739862 N . N Y -0.823146294 11.10725242 0.272667248 36.4 DM Selective T-cell defect, 269840 (3) ZAR1 4 48490252 48494389 N . N Y . . 0.016684021 52.6 . . ZAR1L 13 32303700 32315344 N . N N . . . . . . ZBBX 3 167240287 167381346 N . N N 0.743699297 87.95508479 4.33E-11 93.5 . . ZBED1 X 2486414 2500967 N . N N -1.096809474 6.633096024 0.001833093 62.2 . . ZBED2 3 111592900 111595443 N . N N 0.159759922 61.72946692 0.00205866 61.8 . . ZBED3 5 77072072 77087323 N . N N . . 0.078436436 44.5 . . ZBED5 11 10812074 10858796 N Viable N Y . . . . . . ZBED6 1 203796309 203800558 N . N N . . . . . . ZBED6CL 7 150329789 150332721 N . N N 0.434654036 77.61764195 0.002922262 60.4 . . ZBED8 5 160393148 160400097 N . N N . . . . . . ZBED9 6 28571630 28616212 N . N N . . . . . . ZBP1 20 57603846 57620576 N . N N 1.702291703 97.91051687 1.30E-10 92.8 . . ZBTB1 14 64503712 64533690 N . N Y -0.562445944 17.85610928 0.973423964 12.6 . . ZBTB10 8 80485619 80526265 N . N N -0.29042075 30.03993749 0.881586183 18.5 . . ZBTB11 3 101648889 101677495 N . N N -1.201865964 5.550732187 0.269451352 36.5 . . ZBTB12 6 31899607 31901992 N . N N -0.460273767 21.90195057 0.807401019 21.4 . . ZBTB14 18 5289019 5297053 N . N N -0.846768806 10.63263298 0.628505782 26.7 . . ZBTB16 11 114059593 114250676 N . N Y -0.935698335 8.93094866 0.980087306 11.7 DM Leukemia, acute promyelocytic, PL2F/RARA type (3); Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3) ZBTB2 6 151364117 151391548 N . N N -0.872952495 10.11170921 0.979834594 11.8 . . ZBTB21 21 41986831 42010387 N . N N -1.393160648 3.970596747 0.986130663 10.8 . . ZBTB22 6 33314406 33317942 N . N N -0.130792007 40.01852173 0.235099437 37.5 . . ZBTB25 14 64449106 64505213 N . N N -0.137489868 39.60757076 3.31E-05 75 . . ZBTB26 9 122915566 122931500 N . N N -0.658228302 15.08363721 0.015475125 53 . . ZBTB3 11 62748319 62754188 N . N N -0.528605147 19.08317416 0.243280561 37.3 . . ZBTB32 19 35704527 35717038 N Viable N Y -0.089601417 42.81993402 0.016210167 52.7 . . ZBTB33 X 120250752 120258398 N . N Y 0.142990968 60.43294553 0.893444537 18 . . ZBTB34 9 126860665 126885878 N . N N -0.986462395 8.103258668 0.829622812 20.6 . . ZBTB37 1 173868082 173903549 N . N N -0.218261615 34.41569717 0.734036618 23.6 . . ZBTB38 3 141324213 141449792 N . N N -0.798429835 11.62817619 0.979491449 11.8 . . ZBTB39 12 56998834 57006446 N . N N 0.528821762 81.62296695 0.00973093 55 . . ZBTB4 17 7459366 7484263 N Viable N Y -0.713023874 13.57874631 0.998490203 6.6 . . ZBTB40 1 22451851 22531157 N . N N -1.201731911 5.556520229 1.21E-05 77.6 DM . ZBTB41 1 197153680 197200542 N . N N -0.833369386 10.92203508 0.769627403 22.6 DM? . ZBTB42 14 104800596 104804712 N . N N . . . . . ?Lethal congenital contracture syndrome 6, 616248 (3) ZBTB43 9 126805006 126838210 N . N N -0.268868697 31.33645888 0.877041935 18.8 . . ZBTB44 11 130226677 130314686 N . N N -0.367365256 26.00567228 0.992064124 9.4 . . ZBTB45 19 58513530 58538911 N . N N -0.490938465 20.55912485 0.02663698 50.3 . . ZBTB47 3 42653684 42665854 N . N N . . 0.974750217 12.4 . . ZBTB48 1 6580001 6589280 N . N N -1.581048175 2.911385078 0.680198376 25.2 . . ZBTB49 4 4290251 4321786 N . N N -0.264739339 31.59113272 0.009164155 55.3 . . ZBTB5 9 37438114 37465399 N . N N -0.69735199 14.02442554 0.798455361 21.7 . . ZBTB6 9 122908056 122913330 N . N N 0.037797903 52.3759912 0.357932618 34 . . ZBTB7B 1 155002630 155018522 N . N Y 0.130855251 59.47791862 0.837393371 20.4 . . ZBTB7C 18 48026673 48410752 N . N Y 0.317625038 71.63280662 0.90722146 17.5 . . ZBTB8A 1 32539427 32605939 N . N N 0.278045399 69.20761706 0.106372648 42.8 . . ZBTB8B 1 32465069 32496686 N . N N . . 0.360954125 33.9 . . ZBTB8OS 1 32600172 32650903 N . N N 0.094952155 56.76911501 0.955749358 14.3 . . ZBTB9 6 33453970 33457548 N . N N 0.234940518 66.52775366 0.012159363 54.1 . . ZC2HC1A 8 78666047 78719765 N . N N -0.521256062 19.41309255 0.811433032 21.3 . . ZC2HC1B 6 143864436 143938356 N . N N . . . . . . ZC2HC1C 14 75064170 75079987 N . N N 0.2133882 65.27174857 1.62E-06 81.7 FTV . ZC3H10 12 56118159 56127514 N . N N -0.345813209 26.95491115 0.792020464 21.9 . . ZC3H11A 1 203795654 203854124 N . N N -0.906491622 9.469236557 0.997151605 7.4 . . ZC3H12A 1 37474552 37484379 N . N Y 0.044646769 52.94321931 0.911632715 17.2 . . ZC3H12B X 65366638 65507887 N . N N -0.175004808 37.08977253 0.972148733 12.8 DM? . ZC3H12C 11 110093361 110171841 N . N N -0.695438882 14.08230596 0.998726025 6.3 . . ZC3H12D 6 149446795 149485061 N . N Y . . 0.727798126 23.8 . . ZC3H13 13 45954465 46052759 N . N N -1.669776621 2.569890606 1 0.2 . . ZC3H14 14 88562909 88627596 N . N N -1.063112955 7.015106789 0.999785297 4.4 DM . ZC3H15 2 186486156 186509363 N . N N 0.243250221 67.10655785 0.947515648 15 . . ZC3H18 16 88570381 88631966 N . N N -0.983157836 8.178503212 0.999519576 5.2 . . ZC3H3 8 143437655 143541453 N . N N 1.328530106 95.98309892 0.964538765 13.5 DP . ZC3H4 19 47064187 47113752 N . N N -1.148952448 6.089020085 0.999999772 1.3 . . ZC3H6 2 112275594 112340063 N . N N -1.075253288 6.8646177 0.938245509 15.7 . . ZC3H7A 16 11750586 11797267 N . N N -0.72721813 13.21409967 0.999987025 2.7 . . ZC3H7B 22 41301522 41360147 N . N N -1.232837822 5.28448226 0.990761551 9.8 . . ZC3H8 2 112211525 112255136 N . N N 0.171896242 62.66134167 0.464854053 31 . . ZC3HAV1 7 139043520 139109719 N . N N 0.522275928 81.3393529 0.021872618 51.2 DP . ZC3HAV1L 7 139025706 139036029 N . N N 0.459885344 78.80419054 0.04176161 48.1 . . ZC4H2 X 64915802 65034713 N . N N 0.101498578 57.33634312 0.825852221 20.8 DM Wieacker-Wolff syndrome, 314580 (3) ZCCHC10 5 132996985 133026604 N . N N -0.254016546 32.19887712 0.160801911 40.1 . . ZCCHC12 X 118823790 118826968 N . N N 0.076269801 55.37998495 0.119948129 42.1 DM . ZCCHC13 X 74304190 74305031 N . N N 0.381984452 75.00723505 0.000210272 69.7 DM? . ZCCHC14 16 87406246 87492045 N . N Y -1.055334205 7.136655669 0.948835727 14.9 . . ZCCHC16 X 112454500 112457112 N . N N 0.607228418 84.37228686 0.000561725 66.7 DM? . ZCCHC17 1 31296982 31364953 N . N N -0.197666633 35.6485501 0.21514759 38.3 . . ZCCHC18 X 104112131 104115846 N . N N 0.717867255 87.34734039 0.259266478 36.8 . . ZCCHC2 18 62523007 62587709 N . N N -0.759144048 12.42113793 0.305659357 35.6 . . ZCCHC24 10 79382325 79445627 N . N N 1.133439538 94.36244718 0.473546851 30.7 . . ZCCHC3 20 296968 300321 N . N N -0.531631495 18.90953291 . . . . ZCCHC4 4 25312785 25370383 N . N N 1.102755647 93.96886033 3.22E-05 75 . . ZCCHC5 X 78656069 78659328 N . N N 0.651439248 85.66880824 7.23E-09 89.3 . . ZCCHC6 9 86287733 86354454 N . N N -0.747675382 12.6931759 0.999999563 1.5 . . ZCCHC7 9 37120539 37358149 N . N N 1.080244383 93.7431267 3.37E-09 90 . . ZCCHC8 12 122471600 122501073 N . N N . . 0.777819067 22.4 DM . ZCCHC9 5 81301590 81313297 N . N N 0.720735065 87.46310123 0.007473948 56.3 . . ZCRB1 12 42312078 42326118 N . N N 0.080902701 55.81408809 0.000953936 64.9 . . ZCWPW1 7 100400826 100428992 N . N N 0.621577198 84.79481391 1.15E-12 95.2 . . ZCWPW2 3 28349146 28538122 N . N N 0.23207049 66.37147653 6.76E-05 73 . . ZDBF2 2 206274663 206314428 N . N N 0.650057059 85.62250391 1.38E-07 85.7 . . ZDHHC1 16 67394419 67416833 N . N N -0.797918528 11.63396423 5.11E-06 79.5 . . ZDHHC11 5 795606 850986 N Viable N Y 2.934627626 99.49065231 5.60E-11 93.3 . . ZDHHC11B 5 710360 766952 N . N N . . 0.043228373 47.8 . . ZDHHC12 9 128720869 128724127 N . N N 0.316368397 71.5054697 0.011766228 54.3 . . ZDHHC13 11 19117099 19176422 N . N Y -0.233114996 33.52433872 2.55E-14 96.5 . . ZDHHC14 6 157381133 157678146 N . N N -0.078422859 43.78074897 0.982366558 11.4 . . ZDHHC15 X 75368427 75523502 N . N N 0.073399639 55.17740348 0.896641058 17.9 . ?Mental retardation, X-linked 91, 300577 (3) ZDHHC16 10 97446131 97457370 N . N N -0.563403124 17.82716907 0.018065827 52.2 . . ZDHHC17 12 76763588 76853696 N . N N -0.396420408 24.5991781 0.998394624 6.6 . . ZDHHC18 1 26826710 26857602 N . N N -0.037232312 46.79053076 0.00119785 64 . . ZDHHC19 3 196197449 196211437 N . N N 0.494679511 80.27435319 0.052427427 46.7 . . ZDHHC2 8 17156029 17224799 N Viable N Y 0.09223258 56.57232158 0.007033007 56.6 . . ZDHHC20 13 21372573 21459370 N . N N 0.171896242 62.66134167 0.002330071 61.4 . . ZDHHC21 9 14611071 14693471 N . N N -0.400249026 24.39659663 0.051230379 46.9 . . ZDHHC22 14 77131270 77142734 N . N N 0.170939673 62.57452104 0.318481045 35.2 . . ZDHHC23 3 113947901 113965401 N Viable N Y -0.456445049 22.02349945 3.89E-06 80 . . ZDHHC24 11 66520637 66546238 N Viable N Y 0.121288029 58.8122938 0.006140308 57.1 . . ZDHHC3 3 44915257 44976185 N . N N -0.007220243 48.88580193 0.144015391 40.9 . . ZDHHC4 7 6577434 6589374 N . N N 0.188965718 63.72634138 5.32E-10 91.7 . . ZDHHC5 11 57667747 57701187 N . N N -0.641959288 15.6219251 0.999924209 3.6 . . ZDHHC6 10 112424428 112446917 N . N N -0.360819318 26.28349829 0.00067586 66.1 . . ZDHHC7 16 84974181 85011535 N . N N -0.176918638 36.94507148 0.005074125 58 . . ZDHHC8 22 20129456 20148007 N . N Y -0.399795672 24.43132488 0.988991096 10.1 DP . ZDHHC9 X 129803288 129843909 N . N N -0.268065472 31.35961104 0.885437564 18.4 DM Mental retardation, X-linked syndromic, Raymond type, 300799 (3) ZER1 9 128729786 128772414 N . N N -0.889720408 9.799154946 0.998769063 6.2 . . ZFAND1 8 81701334 81732903 N . N N 0.045300934 53.00688777 0.000588041 66.5 . . ZFAND2A 7 1152071 1160759 N . N N -0.024139966 47.63558488 0.000389857 67.8 . . ZFAND2B 2 219195237 219209651 N . N N -0.195752553 35.7874631 0.004951515 58.1 . . ZFAND3 6 37819499 38154624 N . N N -0.041059779 46.53585692 0.961977905 13.8 . . ZFAND4 10 45615501 45672780 N . N N 0.784889091 88.87538346 0.009251565 55.3 . . ZFAND6 15 80059568 80138393 N . N N 0.003001751 49.6961278 0.218468573 38.1 . . ZFC3H1 12 71609472 71667725 N . N N -2.46550913 1.00133125 1 0.5 . . ZFHX2 14 23520855 23556192 N . N N . . . . . . ZFHX4 8 76681219 76867285 N . N N -3.195174326 0.51513573 0.999999642 1.4 DM ?Ptosis, congenital, 178300 (2) ZFP1 16 75148492 75172236 N . N N -0.415101607 23.69045552 0.009251623 55.3 . . ZFP14 19 36334453 36379199 N . N N -0.253862657 32.21624125 0.000162248 70.4 DM? . ZFP2 5 178895894 178933212 N . N N 0.410380843 76.3674249 5.62E-12 94.6 . . ZFP28 19 56538948 56556810 N . N N -0.474019054 21.27684204 2.49E-06 80.8 . . ZFP3 17 5078248 5096374 N . N N -0.070919872 44.37691729 0.00058403 66.5 . . ZFP30 19 37613749 37692337 N . N N 0.046408913 53.12264861 9.06E-08 86.2 . . ZFP37 9 113038380 113056759 N . N N -0.037885915 46.7268623 4.11E-09 89.8 . . ZFP41 8 143246821 143262705 N . N N 0.290181792 69.94269839 0.000671958 66.1 . . ZFP42 4 187995771 188005050 Y Viable N Y -0.11785159 40.91566823 0.004753298 58.3 . . ZFP62 5 180847611 180861285 N . N N . . 0.115212077 42.3 . . ZFP64 20 52051663 52204308 N . N N -0.21111235 34.8613764 0.005189853 57.9 . . ZFP69 1 40477215 40496343 N . N N 0.577363401 83.35359148 8.56E-08 86.3 . . ZFP69B 1 40450102 40463718 N . N N 0.719925571 87.43416102 2.52E-09 90.3 . . ZFP82 19 36383120 36418656 N . N N -0.435850038 22.9148579 0.0523308 46.7 . . ZFP90 16 68530090 68576072 N . N N -0.585759916 17.21363663 0.008861928 55.4 DM? . ZFP91 11 58579111 58621042 N . N N -0.046497232 46.10754182 0.983773003 11.1 . . ZFP91-CNTF 11 58579172 58624639 N . N N . . . . . . ZFP92 X 153418322 153426481 N . N N . . 0.529624187 29.1 . . ZFPL1 11 65084223 65088400 N Viable N Y 0.528517954 81.59981478 0.654739309 25.9 DM? . ZFR2 19 3804024 3869032 N . N N . . 5.37E-09 89.5 . . ZFY Y 2935281 2982506 N . N N . . 0.255459999 36.9 . . ZFYVE1 14 72969451 73027212 N . N N -0.997491413 7.900677201 0.953726203 14.4 . . ZFYVE16 5 80408013 80479350 N . N N 0.107196603 57.72414192 1.30E-08 88.6 . . ZFYVE19 15 40807086 40815084 N . N N 0.233178149 66.41778086 7.41E-09 89.3 . . ZFYVE21 14 103715730 103733668 N . N N -0.372151226 25.76836256 0.713442898 24.2 . . ZFYVE26 14 67727374 67816590 N . N N -1.436562546 3.756439197 1.04E-11 94.2 DM Spastic paraplegia 15, autosomal recessive, 270700 (3) ZFYVE27 10 97737121 97760907 N . N N 0.553897176 82.57799386 0.003703953 59.4 DM? Spastic paraplegia 33, autosomal dominant, 610244 (3) ZFYVE28 4 2269582 2418663 N Viable N Y 0.616466694 84.64432482 0.88846015 18.3 . . ZFYVE9 1 52142094 52346686 N . N N 0.225179156 65.94316143 0.943796744 15.3 . . ZG16 16 29778240 29782973 N . N N . . . . . . ZG16B 16 2830169 2839585 N . N N 0.159759922 61.72946692 0.004094707 59 . . ZGLP1 19 10304803 10309880 N . N Y 0.081859407 55.83724026 0.437504524 31.8 . . ZGPAT 20 63707465 63736142 N Viable N Y -0.666382202 14.85211553 2.80E-05 75.4 . . ZGRF1 4 112539333 112636995 N . N N . . . . . . ZHX1 8 123248451 123275541 N . N N -0.612902778 16.4090988 0.821482967 20.9 . . ZHX1-C8orf76 8 123226189 123274487 N . N N . . . . . . ZHX2 8 122781394 122974512 N . N Y 0.29446638 70.16264398 0.408482949 32.5 . . ZIK1 19 57578456 57593777 N . N N 0.18146271 63.30960236 4.79E-08 87 . . ZIM2 19 56774552 56840729 N . N N 0.650633105 85.64565607 0.472093394 30.8 . . ZIM3 19 57134096 57145202 N . N N 1.147778493 94.50714823 4.32E-11 93.5 FTV . ZKSCAN1 7 100015572 100041689 N . N N -0.165588061 37.68594085 0.607275237 27.3 . . ZKSCAN2 16 25236001 25257931 N . N N 1.167893706 94.71551774 0.002937675 60.4 . . ZKSCAN3 6 28349914 28369177 N . N N -0.530519144 18.97898941 0.000122608 71.3 . . ZKSCAN4 6 28244623 28252224 N . N N 0.335350119 72.61677375 6.74E-05 73 . . ZKSCAN5 7 99504651 99534700 N . N N -0.548094539 18.29021242 0.000618303 66.4 DM? . ZKSCAN7 3 44555193 44594173 N . N N 0.056933905 53.86351797 1.18E-05 77.6 . . ZKSCAN8 6 28141910 28159472 N . N N 0.06987463 54.88800139 0.000231595 69.4 . . ZMAT1 X 101882288 101932031 N . N N 0.09510276 56.80384326 0.063950515 45.6 . . ZMAT2 5 140698680 140706676 N . N N -0.127421372 40.23267928 0.97143376 12.8 . . ZMAT3 3 179017223 179072279 N . N N -0.265193969 31.55061643 0.056703158 46.3 . . ZMAT4 8 40530590 40897833 N . N N -0.284028847 30.40458413 0.019326863 51.9 . . ZMAT5 22 29730956 29767011 N . N N -0.154562494 38.40365804 0.000193623 69.9 . . ZMYM1 1 35059786 35115859 N . N N -0.468280741 21.50836372 0.001729001 62.5 . . ZMYM3 X 71239624 71255146 N . N N -0.122332238 40.60890201 0.999966816 3.1 DM? . ZMYM4 1 35268967 35422058 N . N N -1.212099669 5.458123517 0.999999929 1.1 . . ZMYM5 13 19823482 19863636 N . N N 0.566034018 82.93685246 0.200378135 38.7 DM? . ZMYM6 1 34986165 35031968 N . N N -0.291074804 29.95311686 1.40E-08 88.5 DM? . ZMYM6NB 1 34981535 34985353 N . N N . . . . . . ZMYND10 3 50341110 50346852 N . N N 0.424430393 77.07356601 3.60E-07 84.2 DM Ciliary dyskinesia, primary, 22, 615444 (3) ZMYND11 10 134465 254637 N . N N -0.722885318 13.32986051 0.999963586 3.1 DM? Mental retardation, autosomal dominant 30, 616083 (3) ZMYND12 1 42430329 42456267 N . N N 0.162629888 61.97256468 0.001059947 64.5 . . ZMYND15 17 4740015 4746119 N . N N -0.544417257 18.40597326 1.44E-05 77.1 . ?Spermatogenic failure 14, 615842 (3) ZMYND19 9 137582079 137590490 N . N N -0.290574674 29.99363315 0.879391539 18.6 . . ZMYND8 20 47209214 47356889 N . N N -2.107253894 1.441222434 0.999997106 2 . . ZNF10 12 133130575 133159465 N . N N -0.621514277 16.14863692 0.000431501 67.5 . . ZNF100 19 21722766 21767628 N . N N 0.562508773 82.82109162 7.10E-13 95.4 . . ZNF101 19 19668796 19683509 N . N N 0.475995728 79.57978816 5.77E-07 83.5 . . ZNF106 15 42412823 42491123 N . N Y -1.487533221 3.426520808 0.219458519 38 . . ZNF107 7 64666083 64711582 N . N N 0.022289459 51.24153499 7.59E-17 97.7 . . ZNF112 19 44326555 44367217 N . N N 0.204275526 64.640852 0.154211258 40.4 . . ZNF114 19 48172318 48287608 N . N N -0.038994253 46.68055797 1.07E-06 82.4 . . ZNF117 7 64971776 65006684 N . N N 0.465772737 79.13410893 0.000213601 69.6 . . ZNF12 7 6688433 6706923 N . N N -0.918777683 9.237714881 0.551264006 28.6 . . ZNF121 19 9560353 9584533 N . N N -0.498746657 20.24078254 0.724859401 23.9 . . ZNF124 1 247121975 247172016 N . N N 0.191685376 63.90577068 1.30E-07 85.8 . . ZNF131 5 43065176 43192021 N . N N -0.244445663 32.81240956 0.999460222 5.2 . . ZNF132 19 58432814 58440222 N . N N -0.367062197 26.02882445 8.15E-13 95.3 . . ZNF133 20 18288283 18316996 N . N N -0.448789697 22.35341784 0.949610073 14.8 . . ZNF134 19 57614233 57624723 N . N N 0.696459078 86.83220467 0.001145501 64.2 . . ZNF135 19 58059239 58086310 N . N N 0.939745514 91.86201308 3.87E-09 89.8 . . ZNF136 19 12163064 12189881 N . N N -0.546482508 18.33072871 1.49E-08 88.5 . . ZNF138 7 64794388 64833681 N . N N 0.731106858 87.60780228 2.22E-07 85 . . ZNF14 19 19710471 19733097 N . N N 0.205079881 64.68136829 5.72E-16 97.4 . . ZNF140 12 133079838 133107544 N . N N 0.598768956 84.07709672 0.002065051 61.8 . . ZNF141 4 337814 384864 N . N N 0.493871825 80.23962493 0.161888983 40.1 DM ?Polydactyly, postaxial, type A6, 615226 (3) ZNF142 2 218637916 218659655 N . N N 0.667586519 86.15500376 1.88E-15 97.2 . . ZNF143 11 9460319 9528524 N . N N -1.277195716 4.873531284 0.021966996 51.2 . . ZNF146 19 36214602 36238774 N . N N 0.033970832 52.15025757 0.811745909 21.3 . . ZNF154 19 57697367 57709194 N . N N 0.447896377 78.26590265 5.19E-05 73.8 . . ZNF155 19 43967862 43998325 N . N N 0.642172954 85.43149852 1.34E-09 90.9 . . ZNF157 X 47370583 47414305 N . N N 0.59604699 83.99606413 8.04E-07 82.9 DM? . ZNF16 8 144930358 144950888 N . N N 0.225827559 66.00682989 4.59E-12 94.7 . . ZNF160 19 53066606 53103436 N . N N 0.207950613 64.91867801 0.001927209 62 . . ZNF165 6 28080975 28089563 N . N N 0.088556503 56.32922382 0.000563292 66.7 . . ZNF169 9 94259311 94301454 N . N N -0.316453863 28.4945303 1.75E-09 90.7 . . ZNF17 19 57411163 57421939 N . N N -0.577299978 17.43937026 0.000331513 68.4 . . ZNF174 16 3401235 3409370 N . N N 0.006980435 50.03762227 0.053032859 46.7 . . ZNF175 19 51571298 51592508 N . N Y 0.591564412 83.86293917 0.000451569 67.3 . . ZNF177 19 9363020 9382617 N . N N 0.31747395 71.6154425 5.54E-06 79.3 . . ZNF18 17 11977439 11997510 N . N N -0.233114996 33.52433872 0.000238202 69.2 . . ZNF180 19 44474428 44500524 N . N N 0.40494342 76.08959889 7.36E-06 78.8 . . ZNF181 19 34734155 34745378 N . N N 0.822252653 89.58731261 3.18E-08 87.5 . . ZNF182 X 47974851 48003978 N Viable N Y 0.063177242 54.40180587 0.856542477 19.7 . . ZNF184 6 27450743 27473118 N . N N -1.04361964 7.310296927 0.133748636 41.4 . . ZNF185 X 152914442 152973480 N . N N 0.763989364 88.43549227 5.21E-10 91.7 . . ZNF189 9 101398873 101410660 N . N N -0.380305159 25.44423222 0.004617885 58.5 . . ZNF19 16 71464555 71565089 N . N N -0.302555896 29.33379638 1.78E-05 76.6 . . ZNF195 11 3339261 3379222 N . N N -0.265040808 31.57376859 0.731668925 23.7 . . ZNF197 3 44584888 44648471 N . N N -0.867873626 10.24483417 5.95E-14 96.3 . . ZNF2 2 95165432 95184317 N . N N -0.151538959 38.60623951 0.298104857 35.8 . . ZNF20 19 12092843 12140407 N . N N -0.144035975 39.12137524 0.023572367 50.8 . . ZNF200 16 3222325 3236221 N . N N 0.305337941 70.81090467 2.25E-06 81.1 . . ZNF202 11 123724177 123741675 N . N Y -0.775255425 12.09700758 0.138743298 41.2 DFP . ZNF205 16 3112560 3120517 N . N Y -0.405534288 24.1303467 0.141235328 41 . . ZNF208 19 21932958 22010949 N . N N 0.727617805 87.53834578 5.00E-20 98.7 . . ZNF211 19 57630395 57642779 N . N N 0.020224237 51.10841002 3.03E-08 87.6 . . ZNF212 7 149239651 149255609 N . N N 0.338220438 72.790415 1.89E-06 81.4 . . ZNF213 16 3129777 3142805 N . N N -0.435697089 22.93222203 0.000112 71.5 DM? . ZNF214 11 6999318 7020368 N . N N 0.743543456 87.94929675 2.50E-14 96.5 . . ZNF215 11 6926404 6984632 N . N N 0.757593025 88.26763906 4.25E-13 95.6 . . ZNF217 20 53567065 53609907 N . N N -1.684901696 2.488858019 0.995447744 8.2 . . ZNF219 14 21090046 21104722 N . N N . . 0.988717808 10.2 . . ZNF22 10 45000475 45005326 N . N N 0.210368257 65.09231927 0.126684327 41.7 . . ZNF221 19 43951223 43967709 N . N N 1.820610156 98.22307114 2.58E-09 90.3 . . ZNF222 19 44025342 44033112 N . N N 1.517395794 97.04809863 9.21E-11 93 . . ZNF223 19 44051367 44067991 N . N N 0.045452123 53.0242519 5.14E-09 89.6 . . ZNF224 19 44094339 44109886 N . N N 0.191987689 63.94049893 2.07E-09 90.5 DP . ZNF225 19 44112181 44134816 N . N N 1.063475933 93.54633328 3.37E-08 87.5 . . ZNF226 19 44165073 44178381 N Viable N Y 0.154625412 61.34166811 5.27E-15 96.8 . . ZNF227 19 44207547 44237268 N . N N -0.592157754 16.95896278 1.69E-05 76.7 . . ZNF229 19 44417519 44448578 N . N N 0.543984882 82.20177114 6.31E-09 89.4 . . ZNF23 16 71447597 71463095 N . N N -0.192729499 36.01898478 8.37E-07 82.8 . . ZNF230 19 44002948 44013926 N . N N 0.681452437 86.46755803 0.008341085 55.7 . . ZNF232 17 5105541 5123116 N . N N -0.64402392 15.57562077 0.000435398 67.5 . . ZNF233 19 44259880 44275317 N . N N 0.946135829 91.93146958 3.27E-17 97.9 DP . ZNF234 19 44141557 44160309 N . N N 0.788563462 88.950628 1.08E-13 96.1 . . ZNF235 19 44228729 44305046 N . N N -0.179485936 36.77721827 1.86E-10 92.5 . . ZNF236 18 76822607 76970727 N . N N -2.297487337 1.134456213 0.999998364 1.9 . . ZNF239 10 43556344 43574618 N Viable N Y 0.031402963 51.9476761 0.000867929 65.2 . . ZNF248 10 37776526 37858106 N . N N -0.680583067 14.48746889 0.685698353 25 . . ZNF25 10 37949572 37976633 N . N N 0.00602363 49.96237773 0.000386916 67.9 . . ZNF250 8 144876497 144902168 N . N N -0.393549347 24.76703131 0.067619888 45.3 . . ZNF251 8 144720907 144756417 N . N N -0.910317479 9.399780054 3.06E-06 80.5 . . ZNF253 19 19865886 19894674 N . N N -0.074595468 44.09909128 1.33E-06 82.2 . . ZNF254 19 24033405 24129961 N . N N 1.004564152 92.81125195 9.15E-27 99.5 . . ZNF256 19 57940833 57947675 N . N N -0.084817347 4.32E+01 1.77E-05 76.6 . . ZNF257 19 22052452 22091480 N . N N 0.840130127 90.01562771 1.12E-09 91.1 . . ZNF26 12 132986365 133032952 N . N N . . . . . . ZNF260 19 36510695 36528660 N Viable N Y -0.435850038 22.9148579 3.07E-06 80.5 . . ZNF263 16 3263800 3301401 N . N N -0.375521858 25.65838977 0.008180516 55.8 . . ZNF264 19 57191500 57222846 N . N N -0.285485 30.31197546 7.10E-06 78.9 . . ZNF267 16 31873758 31917357 N . N N -0.665425649 14.88105574 1.49E-06 81.9 . . ZNF268 12 133181409 133214831 N . N N . . 1.62E-09 90.7 . . ZNF273 7 64870172 64930966 N . N N -0.253710318 32.23939341 8.55E-06 78.5 . . ZNF275 X 153334155 153360110 N . N N . . 0.056608997 46.3 . . ZNF276 16 89720400 89740903 N . N N -0.021771814 47.80922614 0.000257275 69.1 . . ZNF277 7 112206588 112343096 N . N Y -0.249077884 32.50564334 4.87E-14 96.3 . . ZNF28 19 52797409 52857600 N . N N 1.072096799 93.66788216 1.98E-16 97.6 . . ZNF280A 22 22513736 22520270 N . N N 0.827037465 89.71464953 1.34E-08 88.6 . . ZNF280B 22 22484421 22509154 N . N N 0.54080415 82.10337443 0.28301568 36.2 . . ZNF280C X 130202711 130268899 N . N N 0.021029596 51.14892632 0.992273042 9.4 . . ZNF280D 15 56630181 56918571 N . N N -1.044282205 7.281356717 0.820128047 21 . . ZNF282 7 149195485 149226248 N . N N -0.788500635 11.77866528 0.277662873 36.3 . . ZNF283 19 43827292 43852017 N . N N 0.428257224 77.31666377 4.46E-08 87.1 . . ZNF284 19 44072144 44089613 N . N N 0.385152441 75.17508827 7.90E-09 89.2 . . ZNF285 19 44382298 44401608 N . N N 2.308639327 98.99866875 0.002403055 61.2 . . ZNF286A 17 15699692 15744783 N . N N 0.203971741 64.62927592 0.012910605 53.9 . . ZNF286B 17 18658429 18682262 N . N N 0.790325614 88.9911443 0.003746029 59.3 . . ZNF287 17 16551387 16569206 N Viable N Y -0.73214908 13.11570296 0.608657331 27.2 . . ZNF292 6 87152833 87264196 N . N N -1.070721565 6.905133993 0.999976984 2.9 DM? . ZNF296 19 45071500 45076588 N . N N -0.101736898 42.02697228 0.973288664 12.6 . . ZNF3 7 100064033 100082548 N . N N -0.417015534 23.62099902 0.008961057 55.4 . . ZNF30 19 34926903 34945170 N . N N 0.736040148 87.76986745 8.06E-09 89.2 . . ZNF300 5 150894392 150904983 N . N N 0.33630686 72.651502 0.000952651 64.9 . . ZNF302 19 34677639 34686397 N . N N 0.577363401 83.35359148 0.007071956 56.5 . . ZNF304 19 57351307 57359898 N . N N -0.071725006 44.30746079 0.85265032 19.8 . . ZNF311 6 28994785 29005316 N . N N 0.284742403 69.63593216 0.000129446 71.1 DM? . ZNF316 7 6637322 6656432 N . N N . . . . . . ZNF317 19 9140380 9163424 N . N N -0.381261924 25.37477571 0.01570657 52.9 . . ZNF318 6 43307134 43369478 N . N Y -3.131980419 0.544075939 0.053782967 46.6 . . ZNF319 16 57994668 58000453 N . N N -0.512641945 19.71985877 0.959545481 14 . . ZNF32 10 43643859 43648856 N . N N -0.344053504 27.04173178 0.276205823 36.3 . . ZNF320 19 52863790 52897693 N . N N 0.245313747 67.19337848 0.018449658 52.1 . . ZNF321P 19 52928475 52962823 N . N N . . 0.184601492 39.1 . . ZNF322 6 26634383 26659752 N . N N 0.476804223 79.61451641 . . . . ZNF324 19 58467045 58475436 N . N N -0.329546751 27.75944898 0.473925409 30.7 . . ZNF324B 19 58451604 58457833 N . N N -0.210454696 34.89610465 0.005747898 57.5 . . ZNF326 1 89995112 90035531 N . N N -0.742523485 12.81472478 0.977917717 12.1 . . ZNF329 19 58126252 58155110 N . N N -0.701178982 13.88551253 2.31E-05 75.9 . . ZNF330 4 141220887 141234697 N . N N 0.220740999 65.70006367 0.838316379 20.3 . . ZNF331 19 53520981 53580269 N . N N -0.662859235 14.96208833 0.680597794 25.1 . . ZNF333 19 14689801 14733746 N . N N 1.678016915 97.82948429 3.60E-09 89.9 . . ZNF334 20 46499630 46513559 N . N N 0.260471658 68.06158477 4.09E-08 87.3 . . ZNF337 20 25674215 25696841 N . N N -0.479609292 21.02795624 2.29E-09 90.4 . . ZNF33A 10 38010650 38065088 N . N N 0.63673844 85.26943335 0.00046648 67.2 . . ZNF33B 10 42574185 42638568 N . N N 0.461293654 78.88522313 2.25E-06 81.1 . . ZNF34 8 144773114 144787345 N . N N -0.333524957 27.5684436 0.246110578 37.2 . . ZNF341 20 33731657 33792269 N . N N -0.130490874 40.02430978 0.124189157 41.9 . . ZNF343 20 2481817 2524702 N . N N 0.539999313 82.06285814 1.21E-14 96.6 . . ZNF345 19 36850361 36913029 N . N N -0.470494176 21.42154309 2.33E-11 93.8 . . ZNF347 19 53124072 53159075 N . N N -0.692424777 14.16333854 1.26E-17 98 DM? . ZNF35 3 44648727 44660791 N . N N 0.19742545 64.22990102 0.079290627 44.5 . . ZNF350 19 51964343 51986856 N . N N 1.024848375 93.09486601 0.000264162 69 DP . ZNF354A 5 178711592 178730702 N . N N 0.25473034 67.7490305 0.000195111 69.9 . . ZNF354B 5 178859953 178888122 N . N N 0.263190175 68.22943798 1.96E-05 76.3 . . ZNF354C 5 179060415 179083537 N . N N -0.020161029 47.89604677 0.000135489 71 . . ZNF358 19 7515292 7521026 N . N N 0.088556503 56.32922382 0.86702533 19.2 . . ZNF362 1 33256545 33300719 N . N N -0.332721412 27.59738381 0.928285965 16.2 . . ZNF365 10 62374192 62672011 N . N Y 0.299900751 70.49835041 3.62E-05 74.7 DP {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) ZNF366 5 72442652 72507727 N . N N -0.291882381 29.8894484 0.504819504 29.8 . . ZNF367 9 96385941 96418329 N . N Y -0.20804097 35.04659374 0.802012369 21.6 . . ZNF37A 10 38094336 38125544 N . N N -0.482629449 20.86589107 0.001924415 62 . . ZNF382 19 36604817 36634113 N . N N -0.228482701 33.83110494 0.853323188 19.7 . . ZNF383 19 37217926 37248738 N . N N -0.274457717 31.01811657 6.28E-08 86.7 . . ZNF384 12 6666477 6689572 N . N Y -1.302579215 4.699890027 0.94199644 15.5 . . ZNF385B 2 179441982 179861505 N . N N -0.500506623 20.165538 0.001065303 64.5 DM . ZNF385C 17 42025576 42065365 N . N N . . . . . . ZNF385D 3 21415071 22373321 N . N N -0.318518891 28.37876946 0.724321867 23.9 . . ZNF391 6 27374615 27403904 N . N N 0.29113834 69.98900272 9.26E-07 82.6 . . ZNF395 8 28345585 28402701 N . N N -0.943201879 8.820975864 0.819057406 21 . . ZNF396 18 35366697 35377337 N . N N 0.290181792 69.94269839 4.72E-07 83.8 . . ZNF397 18 35241030 35267133 N . N N . . 0.001048463 64.6 . . ZNF398 7 149126416 149182802 N . N N -0.418777308 23.55733056 0.959343722 14 . . ZNF404 19 43872363 43901385 N . N N 0.753765456 88.16924235 1.49E-05 77.1 . . ZNF407 18 74597870 75065671 N . N N -1.478905261 3.467037101 0.999995919 2.2 DM . ZNF408 11 46700818 46705912 N Viable N Y -0.863237248 10.32586676 7.89E-06 78.7 DM ?Exudative vitreoretinopathy 6, 616468 (3); Retinitis pigmentosa 72, 616469 (3) ZNF41 X 47445879 47482946 N . N N 1.463908086 96.78763674 0.001389682 63.4 DM . ZNF410 14 73886617 73932511 N . N N -0.367365256 26.00567228 0.661705781 25.7 . . ZNF414 19 8509678 8514164 N . N N . . 0.002749206 60.7 . . ZNF415 19 53107879 53133077 N . N N 0.48173576 79.81130983 0.005828488 57.4 . . ZNF416 19 57571566 57578927 N . N N -0.209649144 34.96556115 0.000574204 66.6 . . ZNF417 19 57900296 57916610 N . N N 1.751149884 98.05521792 1.13E-06 82.4 . . ZNF418 19 57921884 57935393 N . N N 0.422820958 76.99253343 4.09E-21 98.9 . . ZNF419 19 57487711 57496097 N . N N 0.555005615 82.6242982 2.08E-06 81.2 FP . ZNF420 19 37007857 37130314 N . N N -0.027663999 47.45615558 3.29E-08 87.5 DM? . ZNF425 7 149102784 149126346 N . N N -0.125857678 40.34265208 3.19E-14 96.4 . . ZNF426 19 9523224 9538627 N . N N -0.797765568 11.63975227 5.95E-13 95.5 . . ZNF428 19 43607219 43619874 N . N N 0.207498734 64.86658563 0.720275479 24.1 . . ZNF429 19 21496682 21556270 N . N N 0.616945307 84.66168895 9.71E-14 96.1 . . ZNF43 19 21804949 21852125 N . N N -0.684110075 14.41222434 2.15E-08 88.1 . . ZNF430 19 21020620 21060050 N . N N 0.326890353 72.17109452 0.000180791 70.1 . . ZNF431 19 21142024 21196053 N . N N 0.002347879 49.66139955 0.000233579 69.3 . . ZNF432 19 52031379 52095738 N . N N -0.096952969 42.29901024 6.81E-11 93.2 . . ZNF433 19 12014732 12035741 N . N N -0.399944349 24.42553684 1.95E-12 95 . . ZNF436 1 23359448 23369442 N . N N -0.296009812 29.68107889 0.304488387 35.6 . . ZNF438 10 30820207 31031937 N . N N -0.045237653 46.19436245 3.46E-05 74.9 . . ZNF439 19 11848726 11883750 N . N N 0.161823975 61.9204723 3.21E-08 87.5 . . ZNF44 19 12224686 12294887 N . N N -0.009787637 48.71216068 8.94E-07 82.7 DM? . ZNF440 19 11814284 11835201 N . N N 1.822525979 98.23464722 5.59E-13 95.5 . . ZNF441 19 11767000 11784078 N . N N -0.24620731 32.6792846 0.027667096 50.1 . . ZNF442 19 12345949 12365905 N . N N 1.426537863 96.52138681 1.47E-07 85.7 . . ZNF443 19 12429707 12441112 N . N N 1.169645334 94.74445795 1.83E-05 76.5 . . ZNF444 19 56132599 56160893 N . N N . . 0.691714109 24.8 . . ZNF445 3 44439770 44477670 N . N N -0.383832994 25.21849858 0.996478491 7.8 . . ZNF446 19 58474017 58481230 N . N N 0.754722242 88.22133472 3.39E-06 80.3 . . ZNF449 X 135344796 135363152 N . N N 0.044344174 52.90849106 0.871457179 19 . . ZNF45 19 43912629 43935278 N . N N 0.257600888 67.89373155 0.000102512 71.8 DM? . ZNF451 6 57086844 57170307 N . N N -0.863237248 10.32586676 1.98E-06 81.3 DM? . ZNF454 5 178941191 178966433 N . N N -0.10747793 41.66232564 4.44E-05 74.2 . . ZNF460 19 57280051 57293569 N . N N -0.196556891 35.70643051 0.647011502 26.1 . . ZNF461 19 36637192 36666853 N . N N 0.44039326 77.90704405 3.16E-06 80.5 . . ZNF462 9 106863097 107013634 N . N N -2.818356265 0.700353071 0.999999998 0.6 . . ZNF467 7 149764182 149773479 N . N N -0.275414705 30.96023615 1.71E-07 85.4 . . ZNF468 19 52838008 52857649 N . N N 1.450008274 96.70660416 4.58E-12 94.7 . . ZNF469 16 88427471 88440757 N . N N . . . . DM Brittle cornea syndrome 1, 229200 (3) ZNF470 19 56567511 56588911 N . N N -0.215087684 34.58355038 2.39E-07 84.9 . . ZNF471 19 56507843 56530221 N . N N 0.534257737 81.84291254 3.61E-10 92 . . ZNF473 19 50025714 50053414 N . N N 0.917235036 91.45106211 0.77456836 22.5 . . ZNF474 5 122129513 122179617 N . N N 1.662853966 97.77739191 5.66E-07 83.6 . . ZNF479 7 57119614 57139864 N . N N 2.006328558 98.57614169 0.008101317 55.8 . . ZNF480 19 52297177 52325922 N . N N -0.088644586 42.93569485 2.36E-07 84.9 FTV . ZNF483 9 111525159 111577844 N . N N -0.891634218 9.764426694 0.413497359 32.4 . . ZNF484 9 92845031 92878038 N . N N 0.312035841 71.21027956 4.88E-09 89.6 . . ZNF485 10 43606407 43617903 N . N N -0.151538959 38.60623951 3.53E-05 74.8 . . ZNF486 19 20167228 20200490 N . N N 1.182578782 94.86600683 1.88E-08 88.2 . . ZNF487 10 43436841 43483179 N . N N . . 0.381487324 33.3 . . ZNF488 10 47365496 47384273 N . N N 1.114893411 94.12513747 0.000246117 69.2 . . ZNF490 19 12577961 12640098 N . N N -0.120570168 40.6899346 0.072046336 44.9 . . ZNF491 19 11797667 11809622 N . N N 1.402916795 96.39983793 5.13E-07 83.7 . . ZNF492 19 22634324 22667670 N . N N 1.448899278 96.70081611 0.017430622 52.3 . . ZNF493 19 21397119 21427573 N . N N 0.054215218 53.65514846 3.19E-08 87.5 . . ZNF497 19 58354357 58362848 N . N N 0.29496479 70.19737223 5.39E-08 86.9 . . ZNF500 16 4748239 4767624 N . N N 0.176981701 62.98547201 0.000679411 66.1 . . ZNF501 3 44729596 44737083 N . N N 0.646657413 85.54147132 0.005498058 57.7 . . ZNF502 3 44712643 44723831 N . N N 0.068917845 54.82433293 1.41E-05 77.2 . . ZNF503 10 75397830 75401906 N . N N -0.739652395 12.89575737 0.887882313 18.3 . . ZNF506 19 19785839 19821751 N . N N -0.213476698 34.71088731 2.00E-08 88.2 . . ZNF507 19 32345594 32387667 N . N N -1.691576748 2.477281936 0.885285924 18.4 . . ZNF510 9 96755865 96778129 N . N N 0.431127766 77.4729409 2.36E-09 90.4 . . ZNF511 10 133308475 133313162 N . N N 0.158803293 61.65422238 0.014444704 53.4 . . ZNF512 2 27582969 27623215 N . N N -0.91046979 9.382415929 0.949146986 14.8 . . ZNF512B 20 63956702 64048758 N . N N -1.186857728 5.712797361 0.999557046 5 DFP . ZNF513 2 27377231 27380790 N . N N -0.470342325 21.42733113 0.940738428 15.5 DM Retinitis pigmentosa 58, 613617 (3) ZNF514 2 95147330 95165413 N . N N -0.084968981 43.20194478 7.05E-09 89.3 . . ZNF516 18 76358190 76495190 N . N N . . 0.268830209 36.5 . . ZNF517 8 144798876 144811169 N . N N 0.454442874 78.52057649 2.01E-05 76.2 DM? . ZNF518A 10 96129715 96205288 N . N N . . . . . . ZNF518B 4 10439874 10457410 N . N N 0.016046741 50.68588297 0.591536151 27.7 . . ZNF519 18 14057457 14132490 N . N N 0.982696723 92.55079007 8.85E-07 82.7 . . ZNF521 18 25061926 25352190 N . N Y -2.702239493 0.798749783 0.999979351 2.8 . . ZNF524 19 55600022 55603138 N . N N 0.535874184 81.906581 0.006803764 56.7 . . ZNF525 19 53365693 53392217 N . N N . . 0.001291108 63.7 . . ZNF526 19 42220271 42228201 N . N N -0.344552916 27.02436766 0.068124994 45.2 DM . ZNF527 19 37371061 37393066 N . N N 0.033316563 52.10974127 4.12E-05 74.4 . . ZNF528 19 52397849 52418412 N . N N 0.171392556 62.61503733 1.01E-13 96.1 . . ZNF529 19 36534774 36605276 N . N N -0.229439648 33.75586039 0.001067137 64.5 . . ZNF530 19 57599885 57612722 N . N N 0.87014387 90.60021995 1.74E-10 92.6 . . ZNF532 18 58862600 58986480 N . N N -2.079018627 1.493314812 0.90513824 17.6 . . ZNF534 19 52429187 52452315 N . N N 1.89742457 98.39671239 4.41E-14 96.4 FTV . ZNF540 19 37551406 37614097 N . N N -0.654245712 15.2341263 0.00697653 56.6 . . ZNF541 19 47520685 47555856 N . N N . . . . . . ZNF543 19 57320509 57330776 N . N N 0.117914677 58.563408 9.06E-12 94.3 FTV . ZNF544 19 58228594 58277495 N . N N 0.749287392 88.08820976 3.81E-13 95.6 FTV . ZNF546 19 39984134 40021041 N . N N 0.546700161 82.30016785 2.54E-10 92.2 . . ZNF547 19 57363477 57379565 N . N N -0.123440781 40.55680963 2.12E-11 93.9 . . ZNF548 19 57389850 57402992 N . N N 0.084880585 56.09770215 0.099573543 43.1 . . ZNF549 19 57527325 57557542 N . N N 0.157191398 61.55582566 5.83E-05 73.5 . . ZNF550 19 57535257 57559863 N . N N 1.087748126 93.81837125 1.52E-10 92.6 . . ZNF551 19 57681969 57717301 N . N N 0.009045538 50.2344157 6.09E-07 83.4 . . ZNF552 19 57803841 57814913 N . N N -0.284831791 30.36985588 0.011944108 54.2 . . ZNF554 19 2819874 2835773 N . N N 1.126223818 94.26405047 4.61E-06 79.7 . . ZNF555 19 2841435 2860484 N . N N -0.878390268 9.978584245 1.74E-09 90.7 . . ZNF556 19 2867335 2883445 N . N N 0.886107801 90.86068183 1.58E-05 76.9 . . ZNF557 19 7069444 7087968 N . N N -0.180594035 36.70776176 1.51E-06 81.9 . . ZNF558 19 8806170 8832328 N . N N -0.585912632 17.20206054 0.000767127 65.6 . . ZNF559 19 9323772 9351162 N . N N 1.493119335 96.94970192 7.72E-09 89.2 . . ZNF559-ZNF177 19 9324174 9382617 N . N N 0.571478862 83.14522197 . . . . ZNF560 19 9466507 9498607 N . N N -0.35764605 26.43398738 7.36E-10 91.3 . . ZNF561 19 9604680 9621399 N . N N -0.112110344 41.35555941 0.009762547 55 . . ZNF562 19 9641808 9675086 N . N N 0.36808233 74.28951786 0.139679896 41.1 . . ZNF563 19 12317477 12333720 N . N N 0.094297141 56.72281067 8.58E-07 82.8 . . ZNF564 19 12525370 12551542 N . N N -0.77908304 12.03912716 8.59E-05 72.3 . . ZNF565 19 36182060 36246257 N Viable N Y -0.456445049 22.02349945 0.001766689 62.4 . . ZNF566 19 36445119 36489902 N . N N -0.329850009 27.74208485 0.637363545 26.4 . . ZNF567 19 36687612 36727701 N . N N -0.690000491 14.21543092 1.87E-06 81.4 . . ZNF568 19 36916329 36998700 N . N N 0.447090868 78.20802223 4.91E-09 89.6 . . ZNF569 19 37411155 37469275 N . N N -0.701178982 13.88551253 3.33E-05 75 . . ZNF57 19 2900898 2918476 N . N N 0.547502461 82.35226023 1.00E-06 82.5 . . ZNF570 19 37467585 37488652 N . N N 0.036992354 52.33547491 0.001232864 63.9 . . ZNF571 19 37554782 37594790 N . N N 0.788563462 88.950628 2.83E-09 90.2 . . ZNF572 8 124973298 124979389 N . N N 0.068917845 54.82433293 0.000651451 66.2 . . ZNF573 19 37735833 37817300 N . N N 0.202209328 64.51351508 9.43E-09 89 . . ZNF574 19 42068477 42081565 N . N N -0.540445085 18.55067431 0.908434997 17.4 . . ZNF575 19 43525497 43536130 N . N N 0.353884195 73.67019737 0.456203449 31.2 . . ZNF576 19 43596392 43601157 N . N N 0.300405715 70.5388667 0.007545748 56.2 . . ZNF577 19 51855802 51890950 N . N N 1.777341293 98.13625051 0.012941322 53.9 DP . ZNF578 19 52453576 52512154 N . N N 0.585975389 83.70666204 8.81E-14 96.1 . . ZNF579 19 55576770 55580845 N . N N . . . . . . ZNF580 19 55635016 55643469 N . N N . . 0.508634075 29.7 . . ZNF581 19 55635459 55645622 N . N N -0.077618099 43.83284135 0.064555003 45.6 . . ZNF582 19 56375846 56393545 N . N N -0.810053577 11.3677143 0.000410371 67.7 . . ZNF583 19 56397966 56436035 N . N N -0.746352589 12.73369219 0.376960746 33.4 . . ZNF584 19 58401504 58418327 N . N N 0.302467839 70.66620362 1.31E-05 77.3 . . ZNF585A 19 37106734 37172741 N . N N -0.150430658 38.69884818 0.711326552 24.3 . . ZNF585B 19 37181579 37218153 N . N N -0.463646524 21.74567344 0.005691666 57.5 . . ZNF586 19 57769655 57819939 N . N N -0.077465999 43.85599352 0.005012176 58.1 . . ZNF587 19 57849857 57865112 N . N N 0.988439728 92.62603461 0.00025345 69.1 . . ZNF587B 19 57819741 57846238 N . N N 1.054717946 93.4247844 0.008092643 55.8 . . ZNF589 3 48241100 48299253 N . N N 0.511598665 80.93418996 6.50E-07 83.3 . . ZNF592 15 84748635 84806432 N . N N -1.588168431 2.876656827 0.949422558 14.8 DM . ZNF593 1 26169871 26172060 N . N N 0.098628637 57.02378885 0.156440974 40.3 . . ZNF594 17 5179536 5191883 N . N N 0.552445819 82.52590149 1.14E-10 92.9 . . ZNF595 4 53285 88211 N . N N . . 1.78E-05 76.6 . . ZNF596 8 232137 247342 N . N N -0.186988947 36.33732708 2.90E-14 96.4 . . ZNF597 16 3432422 3443542 N . N N 0.873820107 90.65231232 0.134235997 41.4 . . ZNF598 16 1997654 2009823 N . N N . . 0.20167323 38.7 . . ZNF599 19 34758076 34773229 N . N N 0.635626645 85.2347051 4.70E-07 83.8 . . ZNF600 19 52764195 52818004 N . N N 1.101153262 93.93992013 1.48E-13 96 DP . ZNF605 12 132918308 132956306 N . N N . . 0.960905075 13.9 . . ZNF606 19 57977053 58003349 N . N N -0.665425649 14.88105574 0.32038965 35.1 . . ZNF607 19 37696363 37719790 N . N N -0.141014188 39.35868496 8.48E-08 86.3 . . ZNF608 5 124636913 124748807 N . N N -1.840509824 2.072119002 0.999968158 3 . . ZNF609 15 64460742 64686068 N . N N -1.989786228 1.666956069 0.999945907 3.3 . . ZNF610 19 52336245 52367778 N . N N 0.669315604 86.18973201 1.22E-10 92.8 . . ZNF611 19 52702813 52735073 N . N N 1.121748153 94.21195809 1.16E-17 98.1 . . ZNF613 19 51879872 51948759 N . N N 0.263190175 68.22943798 0.000362474 68.1 . . ZNF614 19 52012765 52030240 N . N N -0.327783769 27.85784569 0.002120628 61.7 . . ZNF615 19 51991332 52008230 N . N N -0.533088092 18.85744053 6.53E-12 94.5 . . ZNF616 19 52113091 52139922 N . N N 0.142337495 60.36348903 1.07E-08 88.8 . . ZNF618 9 113876282 114056591 N . N N -1.42235672 3.808531574 0.994715997 8.5 . . ZNF619 3 40477113 40490236 N . N N 0.08870778 56.34079991 2.36E-05 75.8 . . ZNF620 3 40505992 40518736 N . N N 0.270542348 68.72142154 6.83E-06 79 . . ZNF621 3 40524878 40574685 N . N N 0.133574517 59.72680442 4.18E-05 74.3 . . ZNF622 5 16451519 16465792 N . N N -0.650570088 15.3730393 0.088803853 43.9 . . ZNF623 8 143636013 143656418 N . N N -0.232158138 33.59958326 0.094197002 43.5 . . ZNF624 17 16620737 16653856 N . N N -0.477845454 21.10320079 0.000305863 68.6 DP . ZNF625 19 12142090 12156729 N . N N -0.355230595 26.57290039 0.000825562 65.4 . . ZNF625-ZNF20 19 12132117 12156731 N . N N . . . . . . ZNF626 19 20544571 20863281 N . N N 0.580233574 83.49250449 2.34E-07 84.9 FTV . ZNF627 19 11559374 11619135 N . N N 0.142990968 60.43294553 0.005644146 57.5 DP . ZNF628 19 55476332 55484487 N . N N -0.494765173 20.40284772 0.986868379 10.6 . . ZNF629 16 30778449 30787202 N . N N -0.677712298 14.56850148 0.992317752 9.3 . . ZNF630 X 47983356 48071658 N . N N 0.802462863 89.1995138 0.002230235 61.5 . . ZNF638 2 71276561 71435069 N . N N -1.533428828 3.18921109 0.99995995 3.2 DM? . ZNF639 3 179322991 179338583 N . N N -0.791372557 11.73236094 0.122945965 42 . . ZNF641 12 48337180 48351414 N . N N -0.169415642 37.44284309 0.228415943 37.7 . . ZNF644 1 90915298 91022272 N . N N -0.574138594 17.52619089 0.99732858 7.3 DM? Myopia 21, autosomal dominant, 614167 (3) ZNF645 X 22272943 22274457 N . N N 0.465623125 79.12832089 0.01646562 52.7 . . ZNF646 16 31074422 31084196 N . N N 0.991605692 92.65497482 0.00556536 57.6 . . ZNF648 1 182054570 182061712 N . N N 0.944221988 91.91410546 8.27E-06 78.5 . . ZNF649 19 51889224 51905040 N . N N 0.000434265 49.47039417 0.711121458 24.3 . . ZNF652 17 49289206 49362473 N . N N -0.407598535 24.04931412 0.970739626 12.9 . . ZNF653 19 11483427 11505923 N . N N -0.365299028 26.12143312 0.142112313 41 . . ZNF654 3 88139104 88144665 N . N N 0.165499977 62.20408636 0.947346015 15 . . ZNF655 7 99558406 99576453 N . N N 0.234135 66.47566128 0.03789182 48.6 . . ZNF658 9 66856426 66932141 N Viable N Y 1.143301431 94.4608439 . . . . ZNF66 19 20776304 20807322 N . N N . . 5.45E-17 97.8 . . ZNF660 3 44578223 44599694 N . N N 0.040668219 52.64224113 0.054805105 46.4 . . ZNF662 3 42905731 42917641 N . N N 0.356902595 73.80332234 3.72E-10 92 . . ZNF664 12 123971845 124015439 N . N N -0.139556392 39.44550559 0.001626794 62.7 . . ZNF665 19 53159213 53193386 N . N N 1.437873325 96.62557157 7.68E-08 86.4 . . ZNF667 19 56439325 56478065 N . N N 0.294159089 70.15106789 0.000142443 70.8 . . ZNF668 16 31060843 31074320 N . N N -0.940331683 8.844128031 0.268892373 36.5 DM? . ZNF669 1 247099962 247104372 N . N N 1.436760474 96.60820744 0.060499399 45.9 . . ZNF670 1 247036784 247078755 N . N N -0.397377504 24.54708572 0.451260083 31.3 . . ZNF671 19 57719751 57727624 N . N N -0.829692794 10.98570354 4.22E-13 95.6 . . ZNF672 1 248838210 248849517 N . N N . . 0.000127541 71.2 . . ZNF674 X 46497727 46545457 N . N N 1.025658526 93.10644209 0.004274941 58.8 DM . ZNF675 19 23525631 23687220 N . N N -0.206778689 35.1102622 3.88E-06 80.1 . . ZNF676 19 22179091 22196951 N . N N 1.004404379 92.80546391 1.69E-06 81.6 . . ZNF677 19 53235381 53254898 N . N N -0.175809925 37.02031603 6.09E-07 83.4 . . ZNF678 1 227563543 227677443 N . N N . . 4.67E-07 83.9 . . ZNF679 7 64228474 64266931 N . N N 0.804375828 89.22266597 1.43E-09 90.8 . . ZNF680 7 64519884 64563106 N . N N -0.089601417 42.81993402 4.59E-06 79.7 . . ZNF681 19 23739195 23758891 N . N N 0.994028604 92.70127916 2.16E-08 88.1 . . ZNF682 19 19997058 20039506 N . N N -0.028620813 47.39827516 3.67E-09 89.9 . . ZNF683 1 26361634 26374522 N . N Y 1.021171743 93.04856167 0.001560697 62.9 DM? . ZNF684 1 40531561 40548169 N . N N 0.276132196 69.08028014 0.002217419 61.5 . . ZNF687 1 151281618 151292180 N . N N -0.562812639 17.83874515 0.975942573 12.3 . . ZNF688 16 30569346 30572734 N . N N -0.172286507 37.23447358 7.09E-05 72.9 . . ZNF69 19 11887784 11914329 N . N N 0.231921074 66.33674828 7.35E-05 72.8 . . ZNF691 1 42846573 42852477 N . N N -0.392745948 24.81333565 0.41775865 32.3 . . ZNF692 1 248850006 248859144 N . N N -0.201189312 35.41124038 3.97E-07 84 . . ZNF695 1 246945547 247008093 N . N N 0.53234428 81.73872779 1.30E-10 92.8 . . ZNF696 8 143289676 143298061 N . N N 0.321150679 71.84696417 0.005979722 57.2 . . ZNF697 1 119619422 119647773 N . N N . . 0.191081027 39 . . ZNF699 19 9294275 9309838 N . N N -0.753702167 12.50217052 1.57E-07 85.6 . . ZNF7 8 144827464 144847509 N . N N -1.330533207 4.479944435 0.000238234 69.2 . . ZNF70 22 23738678 23751092 N . N N -0.701178982 13.88551253 0.168320382 39.8 . . ZNF700 19 11925068 11950773 N . N N -0.460777525 21.87301036 4.39E-11 93.5 . . ZNF701 19 52555822 52587174 N . N N 0.438630851 77.81443538 2.35E-07 84.9 . . ZNF703 8 37695751 37700021 N . N N . . . . . . ZNF704 8 80628451 80874781 N . N Y -0.27637172 30.86762748 0.972642497 12.7 . . ZNF705A 12 8138137 8188537 N . N N 1.10915659 94.03831684 0.05247837 46.7 . . ZNF705B 8 7926337 7952413 N . N N . . 0.652541804 26 . . ZNF705D 8 12104389 12115516 N . N N . . . . . . ZNF705G 8 7355517 7385558 N . N N . . 4.25E-09 89.7 . . ZNF706 8 101177878 101206193 N . N N 0.507628396 80.75476066 0.216281952 38.2 . . ZNF707 8 143684452 143713898 N . N N -0.014571683 48.31278578 0.012770085 53.9 . . ZNF708 19 21221500 21329425 N . N N 0.869186937 90.55970365 4.18E-09 89.8 . . ZNF709 19 12461559 12551474 N . N N -0.711553195 13.60189848 5.65E-06 79.3 . . ZNF71 19 56595264 56626481 N . N N -0.582889864 17.31203334 8.09E-06 78.6 . . ZNF710 15 90001392 90082206 N . N N -0.041561741 46.46640042 0.943123585 15.4 . . ZNF711 X 85244032 85273362 N . N N -0.070919872 44.37691729 0.989393564 10.1 DM? Mental retardation, X-linked 97, 300803 (3) ZNF713 7 55887475 55942225 N . N N -0.298880801 29.53637784 0.001115198 64.3 . . ZNF714 19 21082159 21125270 N . N N 0.866316624 90.47867107 7.34E-06 78.8 . . ZNF716 7 57450177 57473546 N . N N -0.171177353 37.31550616 2.56E-08 87.9 . . ZNF717 3 75709643 75785583 N . N N . . 0.332205459 34.8 FTV . ZNF718 4 124480 163989 N . N N . . . . . . ZNF720 16 31713229 31794869 N . N N 0.273114451 68.84297042 0.055960456 46.4 . . ZNF721 4 425815 499156 N . N N 0.588206552 83.78769462 5.97E-11 93.2 . . ZNF724P 19 23221599 23250390 N . N N . . 0.006696031 56.8 . . ZNF726 19 23914876 23945159 N . N N 0.396483307 75.63813162 . . . . ZNF727 7 64045443 64078549 N . N N . . 1.56E-07 85.6 . . ZNF728 19 22975468 23003176 N . N N 0.606570793 84.34913469 1.36E-07 85.7 . . ZNF729 19 22286408 22317176 N . N N 1.516136329 97.03652254 3.73E-10 92 . . ZNF730 19 23075210 23147219 N . N N 1.051037882 93.36690398 1.86E-10 92.5 . . ZNF732 4 270675 305321 N . N N 1.597225258 97.48220177 1.31E-09 90.9 . . ZNF735 7 64207090 64470627 N . N N . . . . . . ZNF736 7 64307459 64354860 N . N N . . 0.143727833 40.9 . . ZNF737 19 20535825 20565809 N . N N 2.323652051 99.00445679 1.11E-07 86 . . ZNF738 19 21358930 21379302 N . N N . . 0.106373219 42.8 . . ZNF74 22 20394115 20408461 N . N N 0.64136944 85.40255831 0.000355878 68.1 . . ZNF740 12 53180700 53195141 N . N N 0.275983486 69.05712797 0.653748288 25.9 . . ZNF746 7 149472794 149497817 N . N N -0.537870687 18.7011634 0.051738567 46.8 . . ZNF747 16 30530367 30535347 N . N N 0.905457131 91.16744805 2.75E-05 75.4 . . ZNF749 19 57435329 57445485 N . N N 0.007283443 50.04919836 1.63E-06 81.7 . . ZNF750 17 82829435 82840578 N . N N 0.227741635 66.1052266 0.865734364 19.2 DM Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) ZNF75A 16 3305406 3318852 N . N N -0.446224844 22.44602651 0.000203485 69.7 . . ZNF75D X 135248920 135344087 N . N N 0.276132196 69.08028014 0.000185372 70 DM? . ZNF76 6 35258909 35295985 N . N N 0.079442861 55.64623488 5.07E-16 97.5 . . ZNF761 19 53431993 53458261 N . N N . . . . . . ZNF763 19 11965037 11980381 N . N N 1.236868967 95.36377843 0.000236873 69.3 . . ZNF764 16 30553764 30558498 N . N N 0.418840633 76.77837588 3.07E-08 87.6 DM? . ZNF765 19 53389793 53430413 N . N N -0.023836771 47.69925334 9.05E-10 91.2 . . ZNF766 19 52269571 52296046 N . N N 0.136444713 59.97569022 7.45E-08 86.5 . . ZNF768 16 30524001 30526821 N . N N -0.678669157 14.53956127 0.57930558 28 . . ZNF77 19 2933218 2944971 N . N N 0.799895792 89.15899751 4.31E-13 95.6 DM? . ZNF770 15 34978341 34988287 N . N N -0.957252191 8.624182439 0.827513247 20.7 . . ZNF771 16 30407297 30431108 N . N N . . 0.295812869 35.8 . . ZNF772 19 57466663 57477570 N . N N 0.392504758 75.48764253 0.007956155 56 . . ZNF773 19 57499915 57518404 N . N N 0.458269625 78.73473404 5.50E-09 89.5 . . ZNF774 15 90352245 90369146 N . N N 0.419797365 76.81889217 1.10E-10 92.9 . . ZNF775 7 150368790 150412470 N . N N -0.172286507 37.23447358 0.012229259 54.1 . . ZNF776 19 57746796 57758159 N . N N -0.560531745 17.9139897 7.87E-06 78.7 . . ZNF777 7 149431363 149461123 N . N N -0.608120603 16.51328356 0.99761441 7.2 . . ZNF778 16 89217703 89237071 N . N N 1.475732941 96.83972912 1.63E-15 97.2 DM . ZNF780A 19 40069152 40090938 N . N N 0.144099113 60.53713029 1.73E-06 81.6 . . ZNF780B 19 40028260 40056209 N . N N -0.080839341 43.51449904 3.90E-13 95.6 DM? . ZNF781 19 37667751 37692322 N . N N -0.043778467 46.32748741 7.22E-06 78.9 . . ZNF782 9 96816472 96875623 N . N N 0.841087159 90.03299184 4.93E-05 73.9 . . ZNF783 7 149262171 149297302 N . N N 0.269736366 68.69248133 0.000963929 64.9 . . ZNF784 19 55620742 55624601 N . N N 0.469300995 79.2961741 0.352694144 34.1 . . ZNF785 16 30573740 30585771 N . N N 0.279002038 69.25970944 3.84E-14 96.4 . . ZNF786 7 149069643 149090782 N . N N -1.168029185 5.921166869 1.40E-08 88.5 . . ZNF787 19 56087366 56121280 N . N N . . 0.741821108 23.4 . . ZNF788 19 12092263 12137235 N . N N . . 0.05299439 46.7 . . ZNF789 7 99472841 99503650 N . N N 0.104519243 57.57365283 7.06E-08 86.6 . . ZNF79 9 127424374 127445372 N . N N -0.100780094 42.06170053 0.017129421 52.4 DM? . ZNF790 19 36817428 36850787 N . N N 0.901114752 91.09799155 3.28E-12 94.8 . . ZNF791 19 12610918 12633840 N . N N -0.697503755 14.01863749 0.008271905 55.7 . . ZNF792 19 34956354 34964049 N . N N 0.691977605 86.71644383 3.90E-07 84.1 . . ZNF793 19 37506939 37548762 N . N N 0.157996972 61.60213 5.31E-06 79.4 . . ZNF799 19 12390016 12401271 N . N N 1.080398324 93.75470278 6.79E-05 73 FTV . ZNF8 19 58278951 58302805 N . N N 0.209712323 65.05759102 . . . . ZNF80 3 114234631 114237578 N . N N 0.768623967 88.52810094 5.32E-08 86.9 FTV . ZNF800 7 127346790 127431924 N . N N -0.017290605 48.08126411 0.99703262 7.5 . . ZNF804A 2 184598366 184939492 N . N N 0.293665186 70.09897552 0.827436291 20.7 DFP . ZNF804B 7 88759368 89337057 N . N N 1.74338772 98.03206575 4.78E-14 96.3 . . ZNF805 19 57240685 57255135 N . N N -0.447027861 22.42866238 0.794368612 21.9 . . ZNF808 19 52527652 52564464 N . N N 0.418346298 76.7262835 1.80E-05 76.5 . . ZNF81 X 47836902 48002561 N . N N 0.778039859 88.75383458 0.303589182 35.6 DM Mental retardation, X-linked 45, 300498 (3) ZNF812 19 9689924 9700817 N . N N 0.993071394 92.68970307 6.00E-07 83.4 . . ZNF813 19 53467735 53496255 N . N N 0.358968028 73.89014296 8.50E-10 91.2 DM? . ZNF814 19 57848731 57889074 N . N N -0.10908872 41.52341263 6.75E-10 91.4 . . ZNF816 19 52949379 52962911 N . N N 1.655502764 97.75423974 5.10E-09 89.6 . . ZNF821 16 71859680 71895336 N . N N -0.050324612 45.75447126 0.158430833 40.2 . . ZNF823 19 11721265 11739009 N . N N -0.301598985 29.37431267 2.09E-06 81.2 . . ZNF827 4 145757627 145938635 N . N N -1.380060197 4.057417376 0.999865838 4 . . ZNF829 19 36888124 36916291 N . N N -0.389874437 24.9580367 1.85E-08 88.3 . . ZNF83 19 52594060 52690496 N . N N 0.012721269 50.46593737 3.82E-06 80.1 . . ZNF831 20 59191020 59259113 N . N N 0.754752321 88.22712276 7.65E-09 89.2 . . ZNF835 19 56661981 56671783 N . N N 0.49593763 80.31486948 9.62E-13 95.3 . . ZNF836 19 52153864 52171643 N . N N 0.623647111 84.86427042 3.02E-09 90.1 . . ZNF837 19 58367618 58381060 N . N N . . 0.258440636 36.8 . . ZNF839 14 102317377 102342702 N . N N 1.404185681 96.41141402 9.19E-05 72.1 . . ZNF84 12 133037292 133063304 N . N N . . . . . . ZNF841 19 52064466 52095765 N . N N -0.595983239 16.82004978 4.05E-08 87.3 . . ZNF843 16 31432593 31443160 N . N N . . . . . . ZNF844 19 12064699 12081565 N . N N 0.996747108 92.71864328 1.01E-05 78 . . ZNF845 19 53333749 53354869 N . N N 1.357410864 96.16252822 6.26E-08 86.7 . . ZNF846 19 9751993 9793180 N . N N 0.552134607 82.5143254 3.75E-16 97.5 . . ZNF85 19 20923222 20950697 N . N N 1.365546768 96.20304451 2.28E-10 92.3 . . ZNF850 19 36714383 36772825 N . N N . . 0.188901355 39 . . ZNF852 3 44498970 44510640 N . N N . . 6.54E-09 89.4 . . ZNF853 7 6615617 6624290 N . N N . . 0.000958951 64.9 . . ZNF860 3 31981771 31991628 N . N N 0.854180038 90.28187764 7.86E-11 93.1 . . ZNF862 7 149838367 149867479 N . N N 0.441015358 77.92440817 3.69E-09 89.9 . . ZNF865 19 55605405 55617269 N . N N . . . . . . ZNF878 19 12043805 12052939 N . N N 1.037942871 93.23377901 1.49E-07 85.6 . . ZNF879 5 179023752 179035064 N . N N . . 0.000705396 65.9 . . ZNF880 19 52369917 52385795 N . N N 2.147025477 98.77293512 3.88E-09 89.8 . . ZNF891 12 133106817 133130473 N . N N . . 0.636347899 26.4 . . ZNF90 19 20077994 20127076 N . N N 0.311078911 71.11188285 1.22E-07 85.9 . . ZNF91 19 23304991 23395560 N . N N -0.068402422 44.49846617 9.92E-05 71.9 . . ZNF92 7 65373799 65401135 N . N N -0.597090606 16.7679574 9.99E-08 86.1 . . ZNF93 19 19900913 19935575 N . N N 0.585018282 83.68350987 0.001691822 62.5 . . ZNF98 19 22391019 22532485 N . N N 1.112024538 94.07883313 1.80E-06 81.5 . . ZNF99 19 22752183 22784107 N . N N 2.075165357 98.69769057 3.04E-09 90.1 FTV . ZNFX1 20 49237946 49278426 N . N N -0.308223014 28.99808995 0.999981099 2.8 . . ZNHIT1 7 101217668 101224190 N . N N -0.01663693 48.16808474 0.000428046 67.5 . . ZNHIT2 11 65116403 65117708 N . N N 0.323063788 71.95114893 0.200832999 38.7 . . ZNHIT3 17 36486629 36499310 N . N N -0.282114394 30.53770909 1.21E-05 77.6 . . ZNHIT6 1 85649423 85708433 N . N N 0.120481978 58.76598947 0.000536151 66.8 . . ZNRD1 6 30058899 30064909 N . N N 0.199039114 64.30514557 0.14486273 40.8 . . ZNRF1 16 74999030 75110994 N . N N . . 0.754396423 23 DM . ZNRF2 7 30284307 30367692 N . N N . . 0.590835928 27.7 . . ZNRF4 19 5455431 5456856 N . N N 1.335530289 96.01782717 0.26322427 36.7 . . ZP1 11 60867562 60875693 N . N Y -0.328590179 27.79417723 4.96E-10 91.8 . Oocyte maturation defect, 615774 (3) ZP2 16 21197450 21214510 N . N Y -0.63158679 15.84765874 1.04E-05 77.9 . . ZP3 7 76397518 76442071 N . N Y 1.055819777 93.44793656 0.001596815 62.8 . . ZP4 1 237877864 237890922 N . N N 0.844916081 90.11981247 3.79E-10 92 . . ZPBP 7 49850421 50121329 N . N Y -0.088796495 42.91254269 0.159636079 40.2 DM . ZPBP2 17 39868164 39877896 N . N Y 0.01161301 50.38490479 0.000986594 64.8 DFP . ZPLD1 3 102099244 102479841 N . N N 0.048322504 53.28471378 0.000311007 68.5 DM . ZRANB3 2 135136916 135531236 N . N N 0.975508207 92.38293685 7.43E-15 96.8 . . ZRSR1 5 112891422 112893094 N . N N . . 1.31E-05 77.3 . . ZRSR2 X 15790472 15823260 N . N N 0.426194468 77.17775077 0.998381925 6.6 . . ZSCAN1 19 58034032 58054631 N . N N 0.003304686 49.75979626 6.40E-07 83.3 . . ZSCAN12 6 28378955 28399734 N . N N . . 1.44E-05 77.1 . . ZSCAN16 6 28124560 28130082 N . N N 0.639154087 85.32152573 2.67E-06 80.7 . . ZSCAN18 19 58083838 58118427 N . N N 0.08870778 56.34079991 0.748253934 23.2 . . ZSCAN2 15 84600986 84627796 N . N N -1.420584927 3.814319616 0.018203704 52.2 . . ZSCAN20 1 33472645 33496507 N . N N -0.880969926 9.938067952 0.071955283 44.9 . . ZSCAN21 7 100049774 100065038 N . N Y -0.195600015 35.79903919 1.71E-11 94 . . ZSCAN22 19 58327019 58342332 N . N N 0.295115961 70.20316027 1.29E-05 77.4 . . ZSCAN23 6 28431930 28443502 N . N N . . 0.002702951 60.8 . . ZSCAN25 7 99616946 99632407 N . N N -0.305274657 29.1717312 0.214589397 38.3 . . ZSCAN26 6 28267010 28278224 N . N N . . . . . . ZSCAN29 15 43358172 43371025 N . N N 0.555160805 82.63008624 2.29E-06 81 DM? . ZSCAN30 18 35251058 35290245 N . N N 0.275325819 69.02818776 9.22E-09 89 . . ZSCAN31 6 28324693 28356271 N . N N -0.327935902 27.84048157 3.77E-09 89.9 . . ZSCAN32 16 3382081 3401065 N . N N 0.423624684 77.05620189 1.16E-05 77.7 . . ZSCAN4 19 57668935 57679152 N . N N 0.051041541 53.45835504 0.004598953 58.5 . . ZSCAN5A 19 56219670 56368383 N . N N 1.281087169 95.66475661 0.081218246 44.4 . . ZSCAN5B 19 56189570 56197920 N . N N 2.340582543 99.033397 1.77E-15 97.2 . . ZSCAN5CP 19 56202301 56209452 N . N N . . . . . . ZSCAN9 6 28224886 28233482 N . N N 0.202058361 64.50772704 4.10E-08 87.3 . . ZSWIM1 20 45881227 45885266 N . N N 0.053911889 53.6319963 8.44E-05 72.4 . . ZSWIM2 2 186827835 186849208 N . N N 0.624448509 84.89899867 5.14E-10 91.7 . . ZSWIM3 20 45857617 45879122 N . N N 0.183527791 63.44272733 0.001413288 63.3 . . ZSWIM4 19 13795460 13832230 N . N N -1.01140034 7.709671818 0.165803304 39.9 . . ZSWIM6 5 61332273 61546170 N . N N . . 0.330184634 34.8 . Acromelic frontonasal dysostosis, 603671 (3) ZSWIM7 17 15976560 15999717 N . N N 0.282530296 69.45650287 0.087925501 43.9 . . ZSWIM8 10 73785582 73801797 N . N N -3.002603824 0.601956358 0.999999921 1.1 . . ZUFSP 6 116635618 116668794 N . N N -0.193686319 35.8974359 2.28E-06 81.1 . . ZW10 11 113733187 113773811 N . N N -0.633499547 15.82450657 0.047262892 47.3 . . ZWILCH 15 66504959 66550128 N . N N -0.068854605 44.475314 8.31E-06 78.5 . . ZWINT 10 56357228 56361275 N . N N 0.548158421 82.36962436 1.33E-08 88.6 . . ZXDA X 57906708 57910820 N . N N 0.763989364 88.43549227 0.005210895 57.9 . . ZXDB X 57591652 57597545 N . N N 0.327697272 72.21161081 0.842955569 20.1 . . ZXDC 3 126437601 126475919 N . N N 0.493066458 80.1933206 0.000818652 65.5 . . ZYG11A 1 52842511 52894998 N . N N . . . . . . ZYG11B 1 52726467 52827342 N . N N -0.698460933 13.95496903 0.999923789 3.6 . . ZYX 7 143381080 143391111 N . N Y 0.448047836 78.27747873 7.74E-06 78.7 . . ZZEF1 17 4004445 4143020 N Viable N Y -2.90393688 0.630896568 0.999923091 3.6 . .