ClinVar Miner

Variants with conflicting interpretations between Eurofins Ntd Llc (ga) and Labcorp Genetics (formerly Invitae), Labcorp

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
24942 5001 0 868 3278 17 248 4408

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance
pathogenic 0 32 6 0 2 0 3
likely pathogenic 96 0 10 1 1 0 0
uncertain significance 168 61 0 2486 766 0 0
likely benign 3 1 20 0 597 0 0
benign 1 1 7 144 0 1 0
other 4 2 3 0 6 0 0

All variants with conflicting interpretations #

Total variants: 4408
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57695
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_004977.3(KCNC3):c.123G>T (p.Gln41His) rs185017345 0.04227
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn) rs5763 0.01438
NM_018965.4(TREM2):c.*73G>A rs2234258 0.01125
NM_001305581.2(LRMDA):c.132-253012del rs146123023 0.01042
NM_006486.3(FBLN1):c.72G>A (p.Ala24=) rs559662894 0.01015
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_005876.5(SPEG):c.116T>C (p.Val39Ala) rs565137573 0.00953
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
UGT1A1*6 rs4148323 0.00891
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_004715.5(CTDP1):c.213G>C (p.Gly71=) rs201234471 0.00821
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107 0.00602
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_000843.4(GRM6):c.1953C>T (p.Ala651=) rs62638620 0.00587
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro) rs201538863 0.00575
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_019616.4(F7):c.740-10T>C rs3093266 0.00559
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_000273.3(GPR143):c.250+11G>C rs375563631 0.00511
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly) rs145618122 0.00506
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn) rs142918575 0.00504
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=) rs372634401 0.00490
NM_001164405.2(BHLHA9):c.116C>A (p.Ala39Glu) rs551239535 0.00489
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_000407.5(GP1BB):c.399C>T (p.Ala133=) rs142352780 0.00467
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=) rs537016494 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333 0.00410
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00398
NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr) rs61755732 0.00391
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser) rs150125328 0.00382
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_003835.4(RGS9):c.495G>A (p.Gln165=) rs147874330 0.00375
NM_000843.4(GRM6):c.504+20G>C rs572890701 0.00374
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) rs142639517 0.00364
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_006486.3(FBLN1):c.1441+9G>A rs142798380 0.00355
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys) rs61753672 0.00344
CYP2C9*5 rs28371686 0.00342
NM_001165967.2(HES7):c.591C>T (p.Pro197=) rs558811781 0.00342
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val) rs113904799 0.00340
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln) rs142672241 0.00331
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile) rs73000144 0.00328
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys) rs147322367 0.00323
NM_001701.4(BAAT):c.409G>A (p.Val137Ile) rs144591246 0.00322
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val) rs144726295 0.00317
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054 0.00315
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488 0.00312
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096 0.00311
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001277313.2(FMN1):c.2583A>G (p.Ala861=) rs61740952 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met) rs139784416 0.00307
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg) rs202079450 0.00304
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) rs137882374 0.00300
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) rs145379416 0.00297
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_004527.4(MEOX1):c.126G>A (p.Pro42=) rs141693578 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_001378414.1(HDAC4):c.1953C>T (p.Pro651=) rs146056747 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_006929.5(SKIC2):c.179A>G (p.Gln60Arg) rs35985869 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=) rs147698935 0.00290
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=) rs142590267 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) rs139731897 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=) rs140627086 0.00288
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) rs34516635 0.00287
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074 0.00285
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val) rs79954845 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) rs140622968 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=) rs192991525 0.00277
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282 0.00272
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_004625.4(WNT7A):c.75C>T (p.Gly25=) rs35103037 0.00272
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749 0.00272
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001128205.2(SULF1):c.669G>T (p.Ala223=) rs111474126 0.00270
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) rs184586428 0.00269
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly) rs115308854 0.00262
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544 0.00261
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211 0.00261
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00260
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val) rs141497885 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=) rs35393316 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00248
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00247
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00244
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_004403.3(GSDME):c.521T>C (p.Met174Thr) rs876306 0.00242
NM_004715.5(CTDP1):c.2322C>T (p.Tyr774=) rs35234657 0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met) rs187512697 0.00241
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) rs56291926 0.00241
NM_002979.5(SCP2):c.687T>C (p.Asp229=) rs80033039 0.00240
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_004715.5(CTDP1):c.2581-5G>T rs199505565 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=) rs150609339 0.00238
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_203288.2(RP9):c.216A>G (p.Pro72=) rs114747263 0.00235
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_007317.3(KIF22):c.1397G>A (p.Arg466Gln) rs145879411 0.00233
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln) rs1052492 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284 0.00232
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=) rs143269092 0.00227
NM_003179.3(SYP):c.687C>T (p.Ala229=) rs201427270 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala) rs41304992 0.00224
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000618.5(IGF1):c.156G>A (p.Thr52=) rs3729846 0.00222
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=) rs182907807 0.00219
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808 0.00217
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229 0.00217
NM_012301.4(MAGI2):c.900A>G (p.Glu300=) rs111635934 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687 0.00216
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=) rs150205903 0.00216
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr) rs142733590 0.00215
NM_144631.6(ZNF513):c.781G>A (p.Val261Met) rs61742428 0.00214
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val) rs138073466 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_004465.2(FGF10):c.97G>A (p.Val33Ile) rs145373611 0.00211
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_004625.4(WNT7A):c.861G>A (p.Val287=) rs149962459 0.00210
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738 0.00210
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=) rs78745792 0.00205
NM_001277313.2(FMN1):c.3001C>T (p.Pro1001Ser) rs199592529 0.00205
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg) rs140419673 0.00205
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_000452.3(SLC10A2):c.762-3T>C rs190734512 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_002900.3(RBP3):c.843C>T (p.Pro281=) rs35186791 0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_000452.3(SLC10A2):c.516C>T (p.Leu172=) rs114146899 0.00201
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000860.6(HPGD):c.93+1_93+3dup rs70947447 0.00201
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=) rs187445787 0.00200
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp) rs143346257 0.00200
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_170699.3(GPBAR1):c.636C>T (p.Ser212=) rs150118963 0.00199
NM_000326.5(RLBP1):c.817C>T (p.Leu273Phe) rs140570189 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_007317.3(KIF22):c.1780G>A (p.Asp594Asn) rs146561986 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014780.5(CUL7):c.4914C>T (p.Asp1638=) rs61731584 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001330677.2(TBX15):c.837A>G (p.Thr279=) rs140670116 0.00196
NM_014639.4(SKIC3):c.2578-10T>C rs140254019 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=) rs142709197 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) rs3736229 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=) rs188142101 0.00195
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000391.4(TPP1):c.688-7T>A rs375262484 0.00194
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) rs144098289 0.00191
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter) rs140872639 0.00190
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167 0.00189
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046 0.00188
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_014920.5(CILK1):c.1419T>C (p.Tyr473=) rs34168889 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_145691.4(ATPAF2):c.699C>T (p.Ala233=) rs143705642 0.00188
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln) rs45574335 0.00185
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_203288.2(RP9):c.34G>A (p.Ala12Thr) rs775870239 0.00183
NM_002181.4(IHH):c.873G>A (p.Arg291=) rs149554120 0.00182
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_004839.4(HOMER2):c.363C>T (p.Ile121=) rs11629943 0.00181
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg) rs143893647 0.00181
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_001378414.1(HDAC4):c.2163G>A (p.Ser721=) rs61735030 0.00180
NM_001378414.1(HDAC4):c.222G>A (p.Glu74=) rs145137674 0.00180
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431 0.00180
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=) rs150849018 0.00180
NM_133261.3(GIPC3):c.132G>C (p.Ala44=) rs80060313 0.00180
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile) rs35374349 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) rs62636565 0.00179
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val) rs147162838 0.00178
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00178
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055 0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_001701.4(BAAT):c.843T>G (p.Ser281=) rs140793591 0.00177
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) rs148591757 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) rs150642468 0.00177
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu) rs143606483 0.00175
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_005522.5(HOXA1):c.684A>G (p.Gln228=) rs34462126 0.00175
NM_006059.4(LAMC3):c.1520-6G>A rs192031352 0.00175
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His) rs115199093 0.00175
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_002181.4(IHH):c.1051G>A (p.Val351Met) rs143959492 0.00174
NM_018451.5(CPAP):c.2992-18G>T rs67311635 0.00174
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00173
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00173
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=) rs187691546 0.00172
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=) rs145518834 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) rs115436019 0.00171
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00170
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_004625.4(WNT7A):c.555C>T (p.Asn185=) rs149363953 0.00170
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_030753.5(WNT3):c.429G>A (p.Ser143=) rs148902716 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_004727.3(SLC24A1):c.1131C>T (p.Thr377=) rs199504782 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) rs200623501 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly) rs144086377 0.00167
NM_012418.4(FSCN2):c.48C>T (p.Leu16=) rs199668780 0.00166
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=) rs201809145 0.00166
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala) rs201738818 0.00166
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601 0.00165
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240 0.00165
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_004608.4(TBX6):c.353+9C>A rs369603655 0.00165
NM_012418.4(FSCN2):c.357C>T (p.Ser119=) rs189437871 0.00165
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=) rs146999653 0.00165
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NM_201548.5(CERKL):c.27G>A (p.Arg9=) rs368855330 0.00164
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001304438.2(TMEM132E):c.1758C>T (p.Cys586=) rs144692952 0.00163
NM_001701.4(BAAT):c.997A>G (p.Ser333Gly) rs139829321 0.00163
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser) rs34932849 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) rs35554630 0.00163
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=) rs146511344 0.00163
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_000092.5(COL4A4):c.2056+10A>G rs138869451 0.00161
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly) rs140735525 0.00159
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_153212.3(GJB4):c.495C>T (p.Ser165=) rs147912521 0.00159
NM_001145715.3(KPNA7):c.1317+3G>A rs138176387 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) rs140778634 0.00158
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) rs139902223 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=) rs771501846 0.00157
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) rs145197227 0.00156
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) rs144574076 0.00156
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln) rs201294090 0.00156
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624 0.00155
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685 0.00155
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) rs200064797 0.00155
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00155
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676 0.00155
NM_130837.3(OPA1):c.2332-19C>A rs77355463 0.00155
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_000128.4(F11):c.1305-9G>T rs4253426 0.00153
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_030665.4(RAI1):c.1656C>T (p.Ser552=) rs148309343 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_000327.4(ROM1):c.81G>T (p.Leu27=) rs148196509 0.00152
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile) rs144322413 0.00152
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) rs41529445 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00148
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=) rs182593453 0.00148
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln) rs145789542 0.00148
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00147
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210 0.00146
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171 0.00146
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) rs370202384 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_000381.4(MID1):c.1266C>T (p.Thr422=) rs148477118 0.00144
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684 0.00144
NM_003846.3(PEX11B):c.483A>G (p.Gly161=) rs148000769 0.00144
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala) rs143817389 0.00144
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser) rs61750441 0.00143
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00141
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_014780.5(CUL7):c.861G>A (p.Gly287=) rs61750322 0.00140
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937 0.00138
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=) rs148667984 0.00138
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe) rs147548960 0.00138
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=) rs61735492 0.00138
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790 0.00137
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00136
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe) rs905287265 0.00136
NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe) rs151290050 0.00136
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001378477.3(NYX):c.1188G>A (p.Pro396=) rs139558261 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_012254.3(SLC27A5):c.899-6C>T rs200114980 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu) rs6813102 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly) rs202059880 0.00133
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_007317.3(KIF22):c.12C>T (p.Gly4=) rs374699250 0.00133
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00132
NM_001200.4(BMP2):c.552G>A (p.Ser184=) rs142811428 0.00132
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=) rs577913880 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg) rs570335069 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) rs34364279 0.00130
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) rs57351269 0.00129
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00129
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00128
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) rs41459945 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys) rs141768593 0.00128
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619 0.00127
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) rs140926445 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680 0.00127
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=) rs35967616 0.00126
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_006269.2(RP1):c.6024A>G (p.Lys2008=) rs147680018 0.00126
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=) rs143055854 0.00126
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452 0.00126
NM_000327.4(ROM1):c.47G>A (p.Arg16His) rs143166696 0.00125
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00125
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_002900.3(RBP3):c.63C>T (p.His21=) rs146038948 0.00125
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp) rs201176284 0.00125
NM_021120.4(DLG3):c.409-4G>T rs188475429 0.00125
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) rs200507933 0.00124
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_004727.3(SLC24A1):c.2445C>T (p.His815=) rs185027365 0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_004447.6(EPS8):c.1638C>T (p.Asn546=) rs149455769 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822 0.00123
NM_016008.4(DYNC2LI1):c.508-4G>A rs201151187 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009 0.00123
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797 0.00122
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu) rs143076262 0.00121
NM_006445.4(PRPF8):c.52C>T (p.Leu18=) rs148531352 0.00121
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg) rs78310959 0.00120
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324 0.00120
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu) rs559539989 0.00120
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475 0.00118
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060 0.00118
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) rs201280938 0.00118
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) rs137885421 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val) rs201681832 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001354712.2(THRB):c.532+8G>C rs146617205 0.00116
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_006343.3(MERTK):c.960+9C>A rs373198570 0.00116
NM_006383.4(CIB2):c.231G>A (p.Ala77=) rs144346527 0.00116
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln) rs145303578 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu) rs147326417 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00114
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) rs146325169 0.00114
NM_014780.5(CUL7):c.1067G>A (p.Arg356His) rs146227929 0.00114
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln) rs112987826 0.00113
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys) rs146867414 0.00113
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00113
NM_004625.4(WNT7A):c.213C>T (p.Asp71=) rs75651130 0.00113
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His) rs148546326 0.00113
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=) rs138387807 0.00112
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) rs140918123 0.00112
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) rs61729175 0.00112
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=) rs115800799 0.00111
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu) rs181499296 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_002427.4(MMP13):c.1335C>T (p.Asn445=) rs145432284 0.00111
NM_004530.6(MMP2):c.1569A>G (p.Val523=) rs115179673 0.00111
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=) rs143272701 0.00111
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys) rs764467903 0.00110
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001304438.2(TMEM132E):c.1572C>T (p.Leu524=) rs149974755 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) rs146969255 0.00109
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=) rs147637431 0.00108
NM_002979.5(SCP2):c.900C>T (p.Asp300=) rs148423275 0.00108
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser) rs35249554 0.00108
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000515.5(GH1):c.15C>T (p.Ser5=) rs111957225 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) rs146772848 0.00107
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733 0.00106
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met) rs148360332 0.00106
NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys) rs146599945 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn) rs139859703 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_025193.4(HSD3B7):c.234C>T (p.Ala78=) rs143699328 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_000392.5(ABCC2):c.3614+6G>C rs17222716 0.00103
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) rs55849640 0.00103
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys) rs199835958 0.00103
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=) rs141472847 0.00103
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser) rs146726548 0.00103
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly) rs371597026 0.00102
NM_004608.4(TBX6):c.408C>T (p.Arg136=) rs149724027 0.00102
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu) rs143377110 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) rs41297065 0.00102
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_201599.3(ZMYM3):c.195C>G (p.Gly65=) rs139405380 0.00102
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=) rs141524545 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser) rs142766824 0.00101
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266 0.00099
NM_001077525.3(MTMR14):c.567G>A (p.Thr189=) rs9880613 0.00099
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) rs143204891 0.00099
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_201599.3(ZMYM3):c.4065C>T (p.Arg1355=) rs142437272 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460 0.00098
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=) rs35969994 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_004998.4(MYO1E):c.3146C>A (p.Pro1049His) rs147579391 0.00098
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00098
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile) rs113315676 0.00097
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00097
NM_080916.3(DGUOK):c.142+9C>T rs377000908 0.00097
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg) rs142844880 0.00097
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu) rs144464757 0.00095
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) rs78219242 0.00095
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_018965.4(TREM2):c.399G>T (p.Leu133=) rs144250872 0.00095
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=) rs61746581 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=) rs147498129 0.00094
NM_001008388.5(CISD2):c.12G>A (p.Glu4=) rs145312923 0.00094
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr) rs886042833 0.00094
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=) rs145483312 0.00094
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His) rs199922090 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_133261.3(GIPC3):c.906C>T (p.Ala302=) rs140960269 0.00094
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=) rs58068378 0.00094
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_001165967.2(HES7):c.420G>A (p.Pro140=) rs200833034 0.00093
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=) rs368979713 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=) rs147766472 0.00093
NM_020066.5(FMN2):c.893G>A (p.Gly298Asp) rs556876873 0.00093
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_004994.3(MMP9):c.1896C>T (p.Leu632=) rs202160464 0.00092
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met) rs201764098 0.00092
NM_012469.4(PRPF6):c.891C>T (p.Leu297=) rs41278234 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=) rs145341486 0.00092
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=) rs371019516 0.00092
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276 0.00091
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) rs147297895 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001966.4(EHHADH):c.450C>T (p.Asp150=) rs116162834 0.00091
NM_019066.5(MAGEL2):c.639A>C (p.Pro213=) rs886042708 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001793.6(CDH3):c.345T>C (p.Ser115=) rs138829996 0.00090
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp) rs113772629 0.00090
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_022095.4(ZNF335):c.2280G>A (p.Gln760=) rs148186790 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_006907.4(PYCR1):c.465C>T (p.Ser155=) rs149683289 0.00089
NM_014319.5(LEMD3):c.1746C>T (p.Ile582=) rs140496862 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00089
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=) rs147991883 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274 0.00088
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=) rs141521080 0.00088
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_004530.6(MMP2):c.1233G>A (p.Leu411=) rs140172728 0.00088
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=) rs150650712 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) rs192179523 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00087
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332 0.00086
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850 0.00086
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_003742.4(ABCB11):c.2985G>A (p.Ala995=) rs113923887 0.00086
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=) rs11568366 0.00086
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) rs149056068 0.00086
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00086
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_021101.5(CLDN1):c.195A>G (p.Lys65=) rs145197251 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_001031679.3(MSRB3):c.76+7G>T rs199896714 0.00084
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg) rs149431376 0.00084
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu) rs140365206 0.00084
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=) rs147303718 0.00084
NM_001200.4(BMP2):c.561C>T (p.Pro187=) rs149465465 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr) rs189898207 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001077525.3(MTMR14):c.480C>T (p.Asn160=) rs375826804 0.00083
NM_001145809.2(MYH14):c.615G>A (p.Thr205=) rs199921330 0.00083
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_002181.4(IHH):c.858G>A (p.Pro286=) rs146055831 0.00083
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=) rs138534271 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_021939.4(FKBP10):c.174A>G (p.Glu58=) rs150052125 0.00083
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_175875.5(SIX5):c.549G>A (p.Val183=) rs143904307 0.00083
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly) rs150379789 0.00083
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00082
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383 0.00082
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu) rs117447044 0.00082
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=) rs199594270 0.00082
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu) rs137931613 0.00082
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) rs143714206 0.00081
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00081
NM_001193315.2(VIPAS39):c.598-6C>G rs141155709 0.00081
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) rs144654126 0.00081
NM_004530.6(MMP2):c.496G>A (p.Glu166Lys) rs147947052 0.00081
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val) rs145538358 0.00081
NM_005676.5(RBM10):c.1104A>G (p.Pro368=) rs149109733 0.00081
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=) rs148580718 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu) rs112657170 0.00080
NM_012418.4(FSCN2):c.492C>T (p.Asp164=) rs370382419 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) rs185715311 0.00079
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=) rs147591591 0.00079
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936 0.00079
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile) rs146682651 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val) rs145092724 0.00079
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00078
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg) rs147769257 0.00078
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993 0.00078
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00077
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr) rs371302780 0.00077
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) rs150246404 0.00076
NM_001353214.3(DYM):c.946+7G>A rs150849326 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala) rs74691009 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=) rs369632735 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) rs138502867 0.00075
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668 0.00075
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) rs150499790 0.00075
NM_003179.3(SYP):c.612G>A (p.Ser204=) rs145093168 0.00075
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_080916.3(DGUOK):c.630G>A (p.Glu210=) rs115206553 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000260.4(MYO7A):c.3503+17G>A rs369969967 0.00073
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00073
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_001277313.2(FMN1):c.2044-1493G>T rs201555719 0.00073
NM_001378414.1(HDAC4):c.681C>T (p.His227=) rs148880349 0.00073
NM_001379180.1(ESRRB):c.414G>A (p.Val138=) rs141586518 0.00073
NM_002473.6(MYH9):c.2871C>T (p.Ser957=) rs374840260 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_005068.3(SIM1):c.279C>T (p.Phe93=) rs145361258 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) rs146764702 0.00073
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 0.00072
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490 0.00072
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=) rs140515130 0.00072
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala) rs201026246 0.00072
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr) rs140874089 0.00072
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651 0.00071
NM_001083961.2(WDR62):c.1769-7C>T rs137919897 0.00071
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030 0.00071
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser) rs139012426 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566 0.00071
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys) rs149860938 0.00071
NM_012418.4(FSCN2):c.984-7C>T rs139335460 0.00071
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_057176.3(BSND):c.715C>T (p.Gln239Ter) rs147394986 0.00071
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val) rs146229976 0.00070
NM_001701.4(BAAT):c.685G>A (p.Val229Ile) rs141722672 0.00070
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=) rs35617833 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=) rs375358318 0.00070
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=) rs113091231 0.00069
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln) rs201519981 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) rs147371835 0.00069
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721 0.00068
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=) rs149158221 0.00068
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) rs141802822 0.00067
NM_001242957.3(MAK):c.975G>A (p.Pro325=) rs145014649 0.00067
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=) rs200564235 0.00067
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=) rs151079505 0.00067
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln) rs140018418 0.00067
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_004403.3(GSDME):c.823A>G (p.Ile275Val) rs149956122 0.00067
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) rs373955726 0.00067
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) rs149065013 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) rs201479143 0.00066
NM_002905.5(RDH5):c.753C>T (p.Arg251=) rs141783438 0.00066
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_004098.4(EMX2):c.105A>T (p.Ala35=) rs373030604 0.00066
NM_004463.3(FGD1):c.1647G>A (p.Glu549=) rs142114385 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_000306.4(POU1F1):c.605-5T>G rs201406891 0.00065
NM_000660.7(TGFB1):c.918C>T (p.Leu306=) rs72480429 0.00065
NM_001277313.2(FMN1):c.2044-2686C>T rs202063843 0.00065
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00065
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val) rs45596843 0.00065
NM_004086.3(COCH):c.153A>C (p.Pro51=) rs573330522 0.00065
NM_004608.4(TBX6):c.585C>T (p.Val195=) rs148435229 0.00065
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469 0.00064
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) rs142525507 0.00064
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp) rs201620814 0.00064
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) rs144131971 0.00064
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240 0.00064
NM_012418.4(FSCN2):c.1274-3C>T rs201054437 0.00064
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) rs144918959 0.00064
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His) rs189967386 0.00064
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) rs201086495 0.00063
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=) rs137899688 0.00063
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=) rs140648896 0.00063
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917 0.00063
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=) rs370111987 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys) rs201110163 0.00063
NM_017668.3(NDE1):c.386+9G>A rs147174812 0.00063
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00063
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His) rs148393425 0.00062
NM_001173467.3(SP7):c.1272G>A (p.Glu424=) rs182820275 0.00062
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=) rs140332932 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00062
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) rs146899730 0.00062
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
NM_000283.4(PDE6B):c.2193+15C>T rs376883350 0.00061
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=) rs34129005 0.00061
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_002900.3(RBP3):c.126G>A (p.Pro42=) rs146175391 0.00061
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) rs148139633 0.00061
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr) rs373683425 0.00061
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val) rs147889360 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp) rs147935593 0.00061
NM_014780.5(CUL7):c.2163T>C (p.Asp721=) rs145572983 0.00061
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=) rs61755429 0.00061
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His) rs200950723 0.00060
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_030665.4(RAI1):c.303C>T (p.Gly101=) rs143836684 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=) rs17216324 0.00059
NM_001319074.4(RAX2):c.156G>A (p.Pro52=) rs141804618 0.00059
NM_001384910.1(GUCA1A):c.600C>T (p.Ala200=) rs149482975 0.00059
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr) rs146431168 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=) rs141922371 0.00059
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400 0.00058
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001159773.2(CANT1):c.966C>T (p.Ser322=) rs140989921 0.00058
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr) rs147702169 0.00058
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly) rs143960528 0.00058
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288 0.00058
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr) rs182138317 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln) rs201359669 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000141.5(FGFR2):c.759T>G (p.Pro253=) rs3135755 0.00057
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00057
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348 0.00057
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=) rs148459550 0.00057
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) rs115398922 0.00057
NM_030665.4(RAI1):c.3318C>A (p.Ala1106=) rs34206150 0.00057
NM_030665.4(RAI1):c.5253C>T (p.Ala1751=) rs34383407 0.00057
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg) rs141919268 0.00056
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser) rs146093652 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_003193.5(TBCE):c.833+8G>T rs372236046 0.00056
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=) rs150970825 0.00055
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu) rs143491269 0.00055
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=) rs146702736 0.00055
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=) rs141463153 0.00055
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln) rs139283183 0.00055
NM_014208.3(DSPP):c.768C>T (p.Asp256=) rs374400491 0.00055
NM_014639.4(SKIC3):c.3341+9A>G rs376170264 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114 0.00054
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00054
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900 0.00054
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006 0.00053
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=) rs374759271 0.00053
NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=) rs114286327 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=) rs142279745 0.00053
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_018451.5(CPAP):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_133497.4(KCNV2):c.957G>A (p.Leu319=) rs141378856 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001353214.3(DYM):c.2172C>T (p.Asp724=) rs201928717 0.00052
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=) rs33965008 0.00052
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) rs200482899 0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_004817.4(TJP2):c.981C>A (p.Ile327=) rs147139671 0.00052
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe) rs571742271 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000381.4(MID1):c.1489C>T (p.Leu497=) rs138629923 0.00051
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg) rs201506921 0.00051
NM_001083961.2(WDR62):c.477G>A (p.Ala159=) rs146485488 0.00051
NM_001199799.2(ILDR1):c.379+10G>C rs200883040 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=) rs148005928 0.00051
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=) rs375650263 0.00051
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) rs144399404 0.00051
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00051
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=) rs181889432 0.00051
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_002335.4(LRP5):c.1032G>C (p.Leu344=) rs143499301 0.00050
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_004700.4(KCNQ4):c.708+9T>A rs191389529 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_032119.4(ADGRV1):c.13654-7C>T rs373551551 0.00050
NM_000327.4(ROM1):c.342C>T (p.Leu114=) rs537377404 0.00049
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=) rs142964161 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) rs141698427 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050 0.00048
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) rs199641113 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006204.4(PDE6C):c.219G>T (p.Gly73=) rs140469169 0.00048
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_012254.3(SLC27A5):c.1377+10C>T rs146267408 0.00048
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_025193.4(HSD3B7):c.695-6C>T rs139152685 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=) rs140634215 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile) rs150780205 0.00047
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_000078.3(CETP):c.940G>A (p.Glu314Lys) rs140547417 0.00046
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082 0.00046
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_000283.4(PDE6B):c.267C>T (p.Ala89=) rs147181781 0.00046
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly) rs200214627 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr) rs144983823 0.00046
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_004560.4(ROR2):c.234G>A (p.Thr78=) rs141093530 0.00046
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr) rs148713638 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463 0.00046
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00046
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326 0.00046
NM_000095.3(COMP):c.763-8T>C rs374063820 0.00045
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met) rs72547505 0.00045
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) rs137946697 0.00045
NM_001098671.2(RASGRP2):c.371+7G>T rs181901181 0.00045
NM_001193315.2(VIPAS39):c.447+9C>T rs145373891 0.00045
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) rs142646329 0.00044
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) rs142700351 0.00044
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser) rs144739747 0.00044
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) rs200663004 0.00044
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311 0.00044
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508 0.00044
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=) rs146793500 0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met) rs150293706 0.00044
NM_207346.3(TSEN54):c.537G>A (p.Pro179=) rs113016401 0.00044
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_002204.4(ITGA3):c.3046-4G>A rs368305833 0.00043
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) rs140491601 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) rs369633003 0.00042
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_020812.4(DOCK6):c.5088+8C>G rs147181483 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_144672.4(OTOA):c.1173G>A (p.Ser391=) rs143326637 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000392.5(ABCC2):c.150C>T (p.His50=) rs200595851 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=) rs151215329 0.00041
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_014639.4(SKIC3):c.3079G>A (p.Gly1027Ser) rs188952987 0.00041
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys) rs372265305 0.00041
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr) rs144120866 0.00040
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn) rs200239326 0.00040
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004463.3(FGD1):c.281A>G (p.His94Arg) rs189159946 0.00040
NM_006086.4(TUBB3):c.357G>A (p.Val119=) rs34174718 0.00040
NM_007317.3(KIF22):c.1619A>T (p.Gln540Leu) rs148628152 0.00040
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met) rs61729706 0.00039
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) rs147904037 0.00039
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) rs141830060 0.00039
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=) rs146578812 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_002098.6(GUCA1B):c.476-3C>T rs200457582 0.00039
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=) rs147617265 0.00039
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=) rs144851263 0.00039
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr) rs183061595 0.00039
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=) rs139655526 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032119.4(ADGRV1):c.357+8C>T rs376004946 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259 0.00038
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn) rs201121404 0.00038
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp) rs200283315 0.00038
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037 0.00038
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=) rs183288709 0.00038
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=) rs150351766 0.00037
NM_002427.4(MMP13):c.438C>T (p.Ser146=) rs17860530 0.00037
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln) rs149004188 0.00037
NM_000141.5(FGFR2):c.1788G>A (p.Glu596=) rs56335660 0.00036
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=) rs149071335 0.00036
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val) rs540371915 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001163809.2(WDR81):c.2266C>T (p.Arg756Trp) rs536486423 0.00036
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=) rs149067286 0.00036
NM_002335.4(LRP5):c.144C>T (p.Ala48=) rs776920568 0.00036
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) rs149482288 0.00035
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=) rs148623263 0.00035
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) rs149006687 0.00035
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=) rs144922340 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_002381.5(MATN3):c.792G>A (p.Ala264=) rs201563567 0.00035
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_005333.5(HCCS):c.521C>T (p.Ala174Val) rs367601527 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) rs148941732 0.00035
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=) rs143749728 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_144631.6(ZNF513):c.519C>T (p.Ser173=) rs199520071 0.00035
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=) rs151020094 0.00035
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln) rs200164212 0.00034
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892 0.00034
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002906.4(RDX):c.1345-7T>C rs142161673 0.00034
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_004994.3(MMP9):c.1591C>T (p.Leu531=) rs141884644 0.00034
NM_014780.5(CUL7):c.2682T>C (p.Ala894=) rs138043979 0.00034
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=) rs373614292 0.00034
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_006086.4(TUBB3):c.507C>T (p.Val169=) rs373718068 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000392.5(ABCC2):c.339G>A (p.Leu113=) rs151304543 0.00032
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971 0.00032
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) rs146487404 0.00032
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049 0.00032
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614 0.00032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_198239.2(CCN6):c.219A>T (p.Gly73=) rs139375158 0.00032
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00031
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00031
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=) rs144531506 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser) rs367891074 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00031
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_002335.4(LRP5):c.1818G>A (p.Ala606=) rs148603249 0.00031
NM_003722.5(TP63):c.1827A>G (p.Glu609=) rs147538847 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) rs57728054 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_006182.4(DDR2):c.720C>T (p.Asp240=) rs141801107 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=) rs144269675 0.00031
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu) rs373717198 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_080916.3(DGUOK):c.256-7C>T rs199531052 0.00031
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359 0.00030
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met) rs117639561 0.00030
NM_001200.4(BMP2):c.891G>A (p.Lys297=) rs147542801 0.00030
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) rs200987019 0.00030
NM_003392.7(WNT5A):c.417C>T (p.Tyr139=) rs371576999 0.00030
NM_014762.4(DHCR24):c.102C>T (p.Phe34=) rs144149165 0.00030
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00030
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00030
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) rs201554429 0.00029
NM_000515.5(GH1):c.597C>G (p.Val199=) rs142704768 0.00029
NM_000523.4(HOXD13):c.135C>T (p.Ser45=) rs757175860 0.00029
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=) rs149471411 0.00029
NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met) rs183134138 0.00029
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys) rs377096949 0.00029
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462 0.00029
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001371333.1(DIABLO):c.50+5C>T rs372776075 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_002427.4(MMP13):c.663G>A (p.Ala221=) rs143331971 0.00029
NM_003322.6(TULP1):c.327C>G (p.Ala109=) rs568898016 0.00029
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) rs371059164 0.00029
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu) rs767711936 0.00029
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=) rs372292364 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp) rs143381873 0.00029
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) rs373352597 0.00029
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) rs149989161 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu) rs144839449 0.00029
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser) rs139823161 0.00029
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) rs776480483 0.00029
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898 0.00028
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000843.4(GRM6):c.1455C>T (p.Gly485=) rs149519053 0.00028
NM_001025295.3(IFITM5):c.41C>T (p.Thr14Met) rs200046984 0.00028
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001102564.3(IFT43):c.296-5600G>C rs189153179 0.00028
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001193315.2(VIPAS39):c.504+9A>G rs371762531 0.00028
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly) rs766856664 0.00028
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) rs772776336 0.00028
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001199799.2(ILDR1):c.1377C>T (p.His459=) rs201105694 0.00027
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241 0.00027
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr) rs146148365 0.00027
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141 0.00027
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577 0.00027
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987 0.00027
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile) rs200044988 0.00026
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) rs144521346 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) rs200684841 0.00026
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=) rs147998041 0.00026
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=) rs564595203 0.00026
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) rs200624778 0.00026
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) rs375734152 0.00026
NM_015047.3(EMC1):c.2712dup (p.His905fs) rs781137936 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_022437.3(ABCG8):c.888G>T (p.Ala296=) rs143182625 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854 0.00026
NM_138927.4(SON):c.2659G>A (p.Ala887Thr) rs370344763 0.00026
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00026
NM_207361.6(FREM2):c.9009C>T (p.Val3003=) rs145657148 0.00026
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575 0.00025
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys) rs147359883 0.00025
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_003193.5(TBCE):c.708T>G (p.Leu236=) rs141498084 0.00025
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) rs370351101 0.00025
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln) rs139401671 0.00025
NM_014780.5(CUL7):c.2802C>A (p.Leu934=) rs144926293 0.00025
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr) rs369603835 0.00025
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=) rs138240307 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_201548.5(CERKL):c.60G>A (p.Glu20=) rs556744419 0.00025
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) rs143697410 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000392.5(ABCC2):c.469-9T>C rs147614414 0.00024
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=) rs1057495486 0.00024
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519 0.00024
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=) rs139517943 0.00024
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916 0.00024
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) rs374690853 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=) rs138544284 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_004560.4(ROR2):c.1671G>A (p.Ser557=) rs201232887 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=) rs147528917 0.00024
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863 0.00024
NM_012301.4(MAGI2):c.411G>A (p.Thr137=) rs149568072 0.00024
NM_012418.4(FSCN2):c.867C>T (p.His289=) rs368687488 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00024
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=) rs201927115 0.00024
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678 0.00024
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala) rs200464486 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=) rs144120903 0.00023
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=) rs137946171 0.00023
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722 0.00023
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln) rs368985605 0.00023
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005676.5(RBM10):c.2175G>T (p.Pro725=) rs137940243 0.00023
NM_018668.5(VPS33B):c.1658-7C>T rs375376103 0.00023
NM_018668.5(VPS33B):c.240-9C>T rs781107857 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) rs373599360 0.00022
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=) rs370500527 0.00022
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=) rs148095831 0.00022
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001367721.1(CASK):c.356+6T>C rs200402760 0.00022
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=) rs138137158 0.00022
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) rs140855833 0.00022
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) rs200075657 0.00022
NM_002335.4(LRP5):c.639C>T (p.Asp213=) rs150859573 0.00022
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) rs4876870 0.00022
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_005378.6(MYCN):c.1093C>G (p.Pro365Ala) rs140276895 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_014780.5(CUL7):c.981C>T (p.Pro327=) rs144880219 0.00022
NM_015311.3(OBSL1):c.1283-9G>A rs376967214 0.00022
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 0.00022
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00022
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu) rs138671220 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=) rs375936342 0.00021
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys) rs370745843 0.00021
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001701.4(BAAT):c.1173C>T (p.His391=) rs113673597 0.00021
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005989.4(AKR1D1):c.262-7C>A rs144365681 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=) rs568534039 0.00021
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_025193.4(HSD3B7):c.695-5G>A rs201111173 0.00021
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341 0.00021
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00021
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=) rs377749969 0.00020
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser) rs183837653 0.00020
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met) rs140527463 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_004839.4(HOMER2):c.609G>T (p.Gln203His) rs200964994 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) rs138673546 0.00019
NM_000392.5(ABCC2):c.2499T>C (p.Val833=) rs75148532 0.00019
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=) rs200427576 0.00019
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001287.6(CLCN7):c.558C>T (p.Phe186=) rs147280414 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) rs139496915 0.00019
NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=) rs755702006 0.00019
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473 0.00019
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524 0.00019
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) rs149642039 0.00019
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_004086.3(COCH):c.198A>T (p.Val66=) rs28400029 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004482.4(GALNT3):c.51T>C (p.His17=) rs149612790 0.00019
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004698.4(PRPF3):c.501A>G (p.Thr167=) rs146995242 0.00019
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn) rs148033381 0.00019
NM_005548.3(KARS1):c.482+8G>A rs377697859 0.00019
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=) rs184994408 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=) rs142880784 0.00019
NM_014920.5(CILK1):c.555G>A (p.Ala185=) rs138668959 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=) rs397517324 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_032119.4(ADGRV1):c.10550-7C>T rs191228562 0.00019
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr) rs201483312 0.00019
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser) rs557331348 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg) rs199648498 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) rs138416665 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001374385.1(ATP8B1):c.1030-9G>A rs201532178 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001457.4(FLNB):c.4390+8T>A rs377095569 0.00018
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=) rs772863037 0.00018
NM_004086.3(COCH):c.87C>T (p.Pro29=) rs774290415 0.00018
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) rs201629205 0.00017
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=) rs182159084 0.00017
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys) rs143423231 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_002025.4(AFF2):c.2424C>T (p.Asp808=) rs139807832 0.00017
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_004560.4(ROR2):c.380C>T (p.Thr127Met) rs375080866 0.00017
NM_004715.5(CTDP1):c.669G>A (p.Thr223=) rs146831211 0.00017
NM_004817.4(TJP2):c.705G>T (p.Arg235=) rs750625862 0.00017
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) rs143560726 0.00017
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=) rs149920599 0.00017
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727 0.00017
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548 0.00017
NM_014780.5(CUL7):c.1570-8G>A rs372757013 0.00017
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_025074.7(FRAS1):c.990A>G (p.Glu330=) rs374045395 0.00017
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) rs372539998 0.00017
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000145.4(FSHR):c.446+10T>C rs200504733 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000273.3(GPR143):c.541G>A (p.Val181Met) rs200870584 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=) rs41311121 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) rs113445400 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys) rs368475300 0.00016
NM_001042472.3(ABHD12):c.787+3G>A rs202150912 0.00016
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) rs201053854 0.00016
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) rs148474667 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001200.4(BMP2):c.1041G>A (p.Thr347=) rs143654141 0.00016
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_002335.4(LRP5):c.1299C>T (p.Thr433=) rs145362529 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003722.5(TP63):c.992+10G>A rs373106660 0.00016
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) rs727504214 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006915.3(RP2):c.30G>A (p.Lys10=) rs782402689 0.00016
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_015972.4(POLR1D):c.177C>T (p.Ile59=) rs144597856 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) rs151087446 0.00016
NM_019098.5(CNGB3):c.474C>T (p.Pro158=) rs151230930 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) rs115239207 0.00016
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) rs371091564 0.00016
NM_054027.6(ANKH):c.846A>G (p.Thr282=) rs139013878 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000316.3(PTH1R):c.638+9G>A rs371052201 0.00015
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=) rs147983048 0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823 0.00015
NM_001292063.2(OTOG):c.2871G>A (p.Val957=) rs539784682 0.00015
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_002979.5(SCP2):c.348C>T (p.Val116=) rs202234745 0.00015
NM_004817.4(TJP2):c.1473C>A (p.Ala491=) rs138509345 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) rs150970273 0.00015
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00015
NM_030665.4(RAI1):c.1740G>A (p.Pro580=) rs138768616 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=) rs375415491 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000780.4(CYP7A1):c.297A>G (p.Lys99=) rs184906718 0.00014
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) rs144587211 0.00014
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=) rs376750375 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=) rs376610188 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001353214.3(DYM):c.534A>G (p.Thr178=) rs775696326 0.00014
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=) rs368877287 0.00014
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=) rs764863689 0.00014
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00014
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_002472.3(MYH8):c.5293-1G>A rs144785726 0.00014
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp) rs147901502 0.00014
NM_002979.5(SCP2):c.1074C>T (p.Gly358=) rs74638331 0.00014
NM_002979.5(SCP2):c.15G>T (p.Pro5=) rs147697594 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp) rs200981903 0.00014
NM_004595.5(SMS):c.661-5C>T rs371972467 0.00014
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) rs527789195 0.00014
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=) rs182418174 0.00014
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=) rs150740479 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=) rs376083373 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=) rs148494695 0.00014
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_025193.4(HSD3B7):c.714C>T (p.His238=) rs147510106 0.00014
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_030665.4(RAI1):c.2004C>T (p.Pro668=) rs398124414 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu) rs146659188 0.00014
NM_175875.5(SIX5):c.714C>G (p.Thr238=) rs758444909 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala) rs202106776 0.00014
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp) rs147987917 0.00013
NM_000255.4(MMUT):c.385+14G>A rs199992904 0.00013
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys) rs201874841 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=) rs747062491 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000875.5(IGF1R):c.84G>A (p.Thr28=) rs372748482 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=) rs373906889 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=) rs751909208 0.00013
NM_001379081.2(FREM1):c.3471+9C>T rs377668876 0.00013
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=) rs138177808 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) rs141355337 0.00013
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) rs140577908 0.00013
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=) rs199794711 0.00013
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_025074.7(FRAS1):c.10128C>T (p.His3376=) rs369331788 0.00013
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=) rs139901820 0.00013
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062 0.00013
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys) rs200372116 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_138927.4(SON):c.5200G>A (p.Val1734Met) rs146053621 0.00013
NM_203475.3(PORCN):c.288C>T (p.Gly96=) rs200263603 0.00013
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) rs368327746 0.00013
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_000067.3(CA2):c.35-7C>A rs371766356 0.00012
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=) rs200569112 0.00012
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360 0.00012
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269 0.00012
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=) rs374667597 0.00012
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln) rs746594902 0.00012
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) rs150084635 0.00012
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=) rs374465656 0.00012
NM_003742.4(ABCB11):c.48G>A (p.Glu16=) rs768192083 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004530.6(MMP2):c.380+10C>T rs545069128 0.00012
NM_004560.4(ROR2):c.2286G>A (p.Ser762=) rs143759440 0.00012
NM_004817.4(TJP2):c.1656A>G (p.Gly552=) rs150723764 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His) rs199906671 0.00012
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_018699.4(PRDM5):c.1605C>T (p.His535=) rs150476884 0.00012
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr) rs139733647 0.00012
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) rs376362072 0.00012
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=) rs144065807 0.00012
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00012
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000266.4(NDP):c.11A>T (p.His4Leu) rs149708528 0.00011
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln) rs142288050 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp) rs147494662 0.00011
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484 0.00011
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) rs144393784 0.00011
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=) rs749315456 0.00011
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His) rs138299564 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_004625.4(WNT7A):c.399C>T (p.Cys133=) rs367697256 0.00011
NM_004817.4(TJP2):c.1506T>C (p.Asp502=) rs139354927 0.00011
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile) rs189443180 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=) rs375290305 0.00011
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=) rs368047383 0.00011
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=) rs727504109 0.00011
NM_007317.3(KIF22):c.549+8C>A rs374331057 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014780.5(CUL7):c.3834C>T (p.Gly1278=) rs141756281 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00011
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) rs369736263 0.00011
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00011
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn) rs200555135 0.00011
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 0.00011
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) rs373354231 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys) rs372400654 0.00011
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00011
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro) rs766184763 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=) rs746019545 0.00011
NM_172364.5(CACNA2D4):c.1807-4del rs756122685 0.00011
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920 0.00010
NM_000163.5(GHR):c.585A>G (p.Gln195=) rs6413483 0.00010
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690 0.00010
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00010
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=) rs140050923 0.00010
NM_000514.4(GDNF):c.138G>A (p.Ala46=) rs375385439 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000717.5(CA4):c.923C>A (p.Ala308Asp) rs201580764 0.00010
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) rs148875137 0.00010
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782 0.00010
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) rs370455274 0.00010
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001369268.1(ACAN):c.894C>T (p.Ser298=) rs576947078 0.00010
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=) rs144099208 0.00010
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=) rs776489281 0.00010
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser) rs150744159 0.00010
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) rs147618989 0.00010
NM_002473.6(MYH9):c.2679C>A (p.Thr893=) rs145476120 0.00010
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=) rs200606123 0.00010
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr) rs998033323 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=) rs367982176 0.00010
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) rs144396411 0.00010
NM_005148.4(UNC119):c.600C>T (p.Ser200=) rs142549864 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) rs369717113 0.00010
NM_018668.5(VPS33B):c.1105+10G>A rs370555380 0.00010
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu) rs200598971 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val) rs766991551 0.00010
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) rs190427962 0.00010
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) rs199798095 0.00010
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys) rs142905845 0.00010
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) rs141681122 0.00010
NM_080916.3(DGUOK):c.60G>A (p.Lys20=) rs961313523 0.00010
NM_133497.4(KCNV2):c.168G>A (p.Glu56=) rs201975160 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_198506.5(LRIT3):c.710G>A (p.Arg237His) rs150750727 0.00010
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=) rs149506333 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) rs781964494 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00009
NM_000428.3(LTBP2):c.1686+8C>G rs563097395 0.00009
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=) rs143992162 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_000515.5(GH1):c.387C>T (p.Tyr129=) rs370785603 0.00009
NM_000541.5(SAG):c.474A>G (p.Thr158=) rs886042737 0.00009
NM_000541.5(SAG):c.843G>A (p.Thr281=) rs374774483 0.00009
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) rs760557332 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=) rs147030757 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693 0.00009
NM_001277313.2(FMN1):c.2044-1533T>G rs200018358 0.00009
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro) rs577419060 0.00009
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=) rs762363452 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=) rs372233648 0.00009
NM_001793.6(CDH3):c.2364C>T (p.Asp788=) rs144637479 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu) rs201351924 0.00009
NM_003816.3(ADAM9):c.540G>A (p.Lys180=) rs186443262 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004530.6(MMP2):c.932C>T (p.Thr311Met) rs572726028 0.00009
NM_004698.4(PRPF3):c.957T>C (p.Pro319=) rs199721048 0.00009
NM_004817.4(TJP2):c.1953G>T (p.Gly651=) rs750134026 0.00009
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=) rs189837148 0.00009
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=) rs139220302 0.00009
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=) rs372321167 0.00009
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=) rs371017482 0.00009
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) rs746320974 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352 0.00009
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170 0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=) rs150413453 0.00009
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser) rs200475773 0.00009
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) rs372857848 0.00009
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=) rs142555732 0.00009
NM_014319.5(LEMD3):c.282C>G (p.Val94=) rs867412512 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_015166.4(MLC1):c.93C>T (p.Asp31=) rs199625892 0.00009
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) rs760053992 0.00009
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) rs771686909 0.00009
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser) rs770674396 0.00009
NM_015629.4(PRPF31):c.1374+9C>T rs727504108 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) rs554545885 0.00009
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=) rs750481560 0.00009
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=) rs200706568 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00009
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 0.00008
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453 0.00008
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182 0.00008
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128 0.00008
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490 0.00008
NM_000346.4(SOX9):c.685+7C>T rs370951695 0.00008
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) rs201343697 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000843.4(GRM6):c.588C>T (p.Pro196=) rs756171835 0.00008
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=) rs773948810 0.00008
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=) rs201711670 0.00008
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) rs764548516 0.00008
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=) rs188105111 0.00008
NM_001242957.3(MAK):c.492-4A>G rs540144059 0.00008
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=) rs771365308 0.00008
NM_001292063.2(OTOG):c.450A>G (p.Thr150=) rs779238030 0.00008
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001376256.1(CRYM):c.474G>A (p.Gln158=) rs371633413 0.00008
NM_001793.6(CDH3):c.2475C>T (p.Gly825=) rs543214840 0.00008
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_002427.4(MMP13):c.443T>A (p.Val148Glu) rs374419716 0.00008
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=) rs146450643 0.00008
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002 0.00008
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln) rs201986784 0.00008
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=) rs376929779 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_006261.5(PROP1):c.423C>T (p.Ala141=) rs200977367 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=) rs760462179 0.00008
NM_020223.4(FAM20C):c.174C>A (p.Pro58=) rs567930512 0.00008
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) rs369131115 0.00008
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022437.3(ABCG8):c.694+5G>C rs557890655 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=) rs370655417 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00008
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=) rs138902406 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 0.00008
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=) rs140813163 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000283.4(PDE6B):c.1258-10T>A rs727504074 0.00007
NM_000362.5(TIMP3):c.321C>T (p.Arg107=) rs145553035 0.00007
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile) rs370049107 0.00007
NM_000392.5(ABCC2):c.99G>A (p.Val33=) rs376241522 0.00007
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=) rs376687300 0.00007
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys) rs794728692 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000541.5(SAG):c.357G>A (p.Thr119=) rs757487948 0.00007
NM_000780.4(CYP7A1):c.1215+8C>T rs368417648 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=) rs112217896 0.00007
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter) rs763001827 0.00007
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=) rs376358532 0.00007
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu) rs200753408 0.00007
NM_002335.4(LRP5):c.996C>T (p.Asn332=) rs956302502 0.00007
NM_002473.6(MYH9):c.5151-4G>A rs368125656 0.00007
NM_002906.4(RDX):c.777A>G (p.Pro259=) rs142773831 0.00007
NM_003392.7(WNT5A):c.819G>A (p.Ala273=) rs200583587 0.00007
NM_003491.4(NAA10):c.564G>A (p.Pro188=) rs150971216 0.00007
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val) rs183984308 0.00007
NM_004463.3(FGD1):c.440G>A (p.Arg147His) rs200707592 0.00007
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004560.4(ROR2):c.2628G>A (p.Thr876=) rs369201767 0.00007
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) rs373160031 0.00007
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=) rs759562639 0.00007
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_006005.3(WFS1):c.726C>T (p.Ile242=) rs71524381 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=) rs556745550 0.00007
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val) rs369520528 0.00007
NM_018451.5(CPAP):c.3663G>A (p.Pro1221=) rs200291056 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00007
NM_022437.3(ABCG8):c.351G>A (p.Val117=) rs41281459 0.00007
NM_022437.3(ABCG8):c.450C>T (p.His150=) rs200013237 0.00007
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=) rs746926891 0.00007
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met) rs199715642 0.00007
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu) rs373868639 0.00007
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=) rs570773279 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_145200.5(CABP4):c.579G>A (p.Leu193=) rs139392451 0.00007
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848 0.00007
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=) rs750789180 0.00007
NM_207346.3(TSEN54):c.468+8C>T rs117456384 0.00007
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=) rs145067399 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217 0.00006
NM_000392.5(ABCC2):c.3987+10G>A rs373365135 0.00006
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431 0.00006
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=) rs200682819 0.00006
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) rs199572129 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_000823.4(GHRHR):c.138G>A (p.Glu46=) rs375206873 0.00006
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=) rs9282723 0.00006
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908 0.00006
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) rs373190423 0.00006
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001128228.3(TPRN):c.1726-7C>T rs377461469 0.00006
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=) rs774844255 0.00006
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=) rs187255209 0.00006
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735 0.00006
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) rs561193756 0.00006
NM_001844.5(COL2A1):c.3435+18C>T rs375024988 0.00006
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) rs754487319 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00006
NM_002335.4(LRP5):c.4272C>T (p.His1424=) rs145226802 0.00006
NM_002473.6(MYH9):c.2907C>T (p.Thr969=) rs767461889 0.00006
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) rs755485474 0.00006
NM_002979.5(SCP2):c.1632C>T (p.Asn544=) rs143534838 0.00006
NM_002979.5(SCP2):c.855A>G (p.Ala285=) rs185811440 0.00006
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00006
NM_003722.5(TP63):c.1083G>A (p.Lys361=) rs148937466 0.00006
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val) rs944713270 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=) rs528640585 0.00006
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys) rs199841445 0.00006
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=) rs202060547 0.00006
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=) rs547088539 0.00006
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=) rs763226980 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.2445G>A (p.Pro815=) rs202010959 0.00006
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) rs183285809 0.00006
NM_004817.4(TJP2):c.2880+17C>T rs778212657 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00006
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=) rs534949106 0.00006
NM_006005.3(WFS1):c.2181C>T (p.Ile727=) rs140286718 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met) rs778345898 0.00006
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys) rs370901533 0.00006
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839 0.00006
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605 0.00006
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297 0.00006
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=) rs368539088 0.00006
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) rs201473375 0.00006
NM_014989.7(RIMS1):c.4506-5G>A rs201556693 0.00006
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser) rs183362306 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) rs374951514 0.00006
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=) rs371805004 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=) rs569907931 0.00006
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=) rs371540139 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.870C>T (p.Ser290=) rs375292899 0.00006
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) rs373560827 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg) rs142544192 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00006
NM_030665.4(RAI1):c.1488G>A (p.Pro496=) rs727504116 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu) rs773072116 0.00006
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) rs142097643 0.00006
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=) rs371639191 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032119.4(ADGRV1):c.8156-6T>C rs574939589 0.00006
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_144672.4(OTOA):c.1488+8G>A rs375767505 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_173630.4(RTTN):c.4564+8C>T rs563328673 0.00006
NM_194248.3(OTOF):c.2253G>A (p.Thr751=) rs201888333 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=) rs142223451 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu) rs201148742 0.00006
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) rs371115266 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu) rs398123341 0.00005
NM_000381.4(MID1):c.99C>T (p.Cys33=) rs727504015 0.00005
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496 0.00005
NM_000392.5(ABCC2):c.232C>T (p.Leu78=) rs764390911 0.00005
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=) rs148081784 0.00005
NM_000443.4(ABCB4):c.438C>T (p.Ile146=) rs776179529 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) rs199766420 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000823.4(GHRHR):c.885G>T (p.Val295=) rs146944568 0.00005
NM_000875.5(IGF1R):c.189C>T (p.Leu63=) rs149417802 0.00005
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=) rs886043663 0.00005
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=) rs372060305 0.00005
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=) rs143765189 0.00005
NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=) rs369427864 0.00005
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) rs749019037 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=) rs372523225 0.00005
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=) rs201514636 0.00005
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=) rs149156534 0.00005
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=) rs749127600 0.00005
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=) rs575921074 0.00005
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=) rs754530774 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) rs76471260 0.00005
NM_001701.4(BAAT):c.762G>A (p.Thr254=) rs760488689 0.00005
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr) rs539433580 0.00005
NM_001966.4(EHHADH):c.855C>T (p.Ser285=) rs752275123 0.00005
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00005
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=) rs552133535 0.00005
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_003491.4(NAA10):c.201G>C (p.Val67=) rs375971315 0.00005
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_003835.4(RGS9):c.69C>T (p.Leu23=) rs373346845 0.00005
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=) rs771249524 0.00005
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_004560.4(ROR2):c.822C>T (p.Asn274=) rs140557090 0.00005
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu) rs200222645 0.00005
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00005
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=) rs147298435 0.00005
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_006005.3(WFS1):c.498C>G (p.Leu166=) rs758731318 0.00005
NM_006031.6(PCNT):c.7180-7G>A rs201549624 0.00005
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=) rs760451045 0.00005
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) rs200935038 0.00005
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=) rs201436915 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=) rs376689763 0.00005
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) rs200943280 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=) rs188017433 0.00005
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile) rs868801998 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_172364.5(CACNA2D4):c.2054+4A>T rs200648405 0.00005
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=) rs398124367 0.00005
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=) rs370364142 0.00005
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=) rs778669346 0.00005
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=) rs752080876 0.00005
NM_000082.4(ERCC8):c.510T>C (p.Leu170=) rs886042104 0.00004
NM_000092.5(COL4A4):c.90C>T (p.Leu30=) rs747805491 0.00004
NM_000179.3(MSH6):c.2418C>T (p.Ser806=) rs770992427 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) rs727504023 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000316.3(PTH1R):c.645G>T (p.Leu215=) rs201490454 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000372.5(TYR):c.759A>T (p.Gly253=) rs200936835 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000392.5(ABCC2):c.213C>T (p.Phe71=) rs770824435 0.00004
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=) rs774159224 0.00004
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met) rs771965437 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=) rs746750365 0.00004
NM_000458.4(HNF1B):c.1008C>T (p.His336=) rs150268130 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_000539.3(RHO):c.362-10T>C rs568571580 0.00004
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=) rs146408926 0.00004
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr) rs779269724 0.00004
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=) rs200839929 0.00004
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=) rs886043360 0.00004
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) rs749416988 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713 0.00004
NM_001061.7(TBXAS1):c.51G>A (p.Thr17=) rs201600575 0.00004
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=) rs79238222 0.00004
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=) rs145654111 0.00004
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) rs761519681 0.00004
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=) rs372626992 0.00004
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=) rs372433846 0.00004
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter) rs370453487 0.00004
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=) rs762986714 0.00004
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=) rs370122685 0.00004
NM_001193315.2(VIPAS39):c.632-9G>A rs370850533 0.00004
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr) rs757220593 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001319074.4(RAX2):c.91C>T (p.Arg31Cys) rs200153795 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=) rs372403441 0.00004
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) rs77902523 0.00004
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=) rs371049725 0.00004
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=) rs761202112 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=) rs747771646 0.00004
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=) rs777459332 0.00004
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) rs182527895 0.00004
NM_001384140.1(PCDH15):c.3717+10T>C rs376158566 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001457.4(FLNB):c.1303G>A (p.Asp435Asn) rs781162510 0.00004
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) rs184065600 0.00004
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457 0.00004
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) rs763097721 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) rs532156048 0.00004
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) rs200616409 0.00004
NM_002900.3(RBP3):c.1581G>A (p.Pro527=) rs782233629 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.711G>A (p.Arg237=) rs765070028 0.00004
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=) rs374310569 0.00004
NM_003846.3(PEX11B):c.374+9T>C rs200094067 0.00004
NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr) rs201973197 0.00004
NM_003846.3(PEX11B):c.510T>G (p.Thr170=) rs782275834 0.00004
NM_004187.5(KDM5C):c.25C>T (p.Leu9=) rs782183376 0.00004
NM_004380.3(CREBBP):c.423T>G (p.Ser141=) rs760605470 0.00004
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu) rs727503925 0.00004
NM_004482.4(GALNT3):c.1392+7T>G rs779970449 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004817.4(TJP2):c.1629G>A (p.Ser543=) rs771239031 0.00004
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00004
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) rs748102718 0.00004
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00004
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu) rs151296951 0.00004
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=) rs149466423 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=) rs533624001 0.00004
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 0.00004
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=) rs200829661 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) rs147838635 0.00004
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=) rs181127717 0.00004
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=) rs770535800 0.00004
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met) rs142986731 0.00004
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=) rs398124230 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098 0.00004
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00004
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00004
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=) rs372436444 0.00004
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) rs377641548 0.00004
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val) rs557540994 0.00004
NM_014780.5(CUL7):c.156C>T (p.Asp52=) rs368209176 0.00004
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) rs374001837 0.00004
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=) rs767426819 0.00004
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) rs376939609 0.00004
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=) rs531965733 0.00004
NM_016239.4(MYO15A):c.9518-10G>A rs570587230 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_020223.4(FAM20C):c.795G>A (p.Ser265=) rs766106805 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=) rs372301689 0.00004
NM_020754.4(ARHGAP31):c.3461C>T (p.Pro1154Leu) rs772715426 0.00004
NM_021830.5(TWNK):c.1827C>A (p.Arg609=) rs146601680 0.00004
NM_021939.4(FKBP10):c.315C>T (p.Gly105=) rs373064272 0.00004
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala) rs570371168 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022437.3(ABCG8):c.15G>A (p.Ala5=) rs200951677 0.00004
NM_022437.3(ABCG8):c.331A>C (p.Arg111=) rs752358589 0.00004
NM_022437.3(ABCG8):c.369C>T (p.His123=) rs139859350 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=) rs372168929 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091 0.00004
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val) rs532836800 0.00004
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=) rs368420512 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=) rs183208875 0.00004
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr) rs375085032 0.00004
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu) rs959132080 0.00004
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=) rs764738838 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala) rs756062421 0.00004
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser) rs201579557 0.00004
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=) rs369467944 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_080680.3(COL11A2):c.12C>T (p.Cys4=) rs914781832 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00004
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln) rs774845879 0.00004
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_144672.4(OTOA):c.462C>T (p.Gly154=) rs767974412 0.00004
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser) rs767502632 0.00004
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile) rs371136012 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_182746.3(MCM4):c.1800+8G>A rs890413153 0.00004
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=) rs369821286 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=) rs149306655 0.00004
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929 0.00003
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000307.5(POU3F4):c.588G>C (p.Gln196His) rs770776910 0.00003
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=) rs201013164 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000362.5(TIMP3):c.459G>A (p.Leu153=) rs757458960 0.00003
NM_000370.3(TTPA):c.553-6C>T rs761911043 0.00003
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268 0.00003
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.2747+10C>T rs772329652 0.00003
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) rs371013005 0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378 0.00003
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=) rs552470353 0.00003
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=) rs754035007 0.00003
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) rs757589571 0.00003
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met) rs376963969 0.00003
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=) rs767329180 0.00003
NM_001042413.2(GLIS3):c.609G>A (p.Ser203=) rs148306701 0.00003
NM_001042472.3(ABHD12):c.317-10T>A rs768757901 0.00003
NM_001142800.2(EYS):c.5645-8C>T rs886044616 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633 0.00003
NM_001193315.2(VIPAS39):c.1089+8C>G rs371371767 0.00003
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=) rs768593671 0.00003
NM_001193315.2(VIPAS39):c.246C>T (p.His82=) rs569525220 0.00003
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp) rs555310772 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001287.6(CLCN7):c.435C>T (p.Asp145=) rs201964194 0.00003
NM_001349338.3(FOXP1):c.1902C>T (p.His634=) rs749771909 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=) rs775490128 0.00003
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=) rs139841625 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser) rs199912711 0.00003
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=) rs372726521 0.00003
NM_001701.4(BAAT):c.165C>T (p.Phe55=) rs377631387 0.00003
NM_001793.6(CDH3):c.2178G>A (p.Pro726=) rs398123626 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482 0.00003
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.1548+7C>T rs373996629 0.00003
NM_002335.4(LRP5):c.1002G>A (p.Arg334=) rs868085658 0.00003
NM_002335.4(LRP5):c.2241G>A (p.Leu747=) rs867927445 0.00003
NM_002335.4(LRP5):c.738C>T (p.Ser246=) rs768638466 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_003322.6(TULP1):c.1323+9C>T rs769417336 0.00003
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=) rs367874361 0.00003
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=) rs368622067 0.00003
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile) rs776173779 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004447.6(EPS8):c.1230A>C (p.Gly410=) rs184886917 0.00003
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_004560.4(ROR2):c.51C>A (p.Ala17=) rs886043361 0.00003
NM_004744.5(LRAT):c.300C>T (p.Gly100=) rs770608706 0.00003
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) rs988720358 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met) rs373132598 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=) rs530593118 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006445.4(PRPF8):c.2619C>T (p.Asn873=) rs760867601 0.00003
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545 0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=) rs78465857 0.00003
NM_006899.5(IDH3B):c.1072-4G>A rs556473702 0.00003
NM_006899.5(IDH3B):c.981G>A (p.Leu327=) rs776399707 0.00003
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=) rs376381280 0.00003
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) rs370141420 0.00003
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=) rs761584493 0.00003
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn) rs759104377 0.00003
NM_012469.4(PRPF6):c.772-7C>T rs558787024 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014491.4(FOXP2):c.2003+10G>C rs199581885 0.00003
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=) rs760890681 0.00003
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=) rs147321202 0.00003
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) rs886044241 0.00003
NM_018136.5(ASPM):c.8821-9A>G rs375911555 0.00003
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) rs776501112 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=) rs191154178 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) rs371968769 0.00003
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met) rs753460351 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile) rs774169673 0.00003
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter) rs755097467 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_030665.4(RAI1):c.195G>A (p.Thr65=) rs377342940 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_030665.4(RAI1):c.660C>T (p.Ser220=) rs756623054 0.00003
NM_031407.7(HUWE1):c.11996+9C>T rs782772316 0.00003
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=) rs1445890457 0.00003
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys) rs753667658 0.00003
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln) rs567881943 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032119.4(ADGRV1):c.17857-6T>C rs773357747 0.00003
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr) rs765800403 0.00003
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160 0.00003
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981 0.00003
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys) rs759360751 0.00003
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=) rs377468788 0.00003
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) rs764987437 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_054027.6(ANKH):c.27C>T (p.His9=) rs199583793 0.00003
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser) rs761687232 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=) rs368364250 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=) rs1002095432 0.00003
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=) rs749177032 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=) rs745614158 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_000092.5(COL4A4):c.372+7A>G rs1483461114 0.00002
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=) rs751495618 0.00002
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=) rs794727163 0.00002
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) rs782397746 0.00002
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169 0.00002
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=) rs779990343 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000390.4(CHM):c.1771-8T>C rs912390081 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064 0.00002
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00002
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=) rs146718433 0.00002
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555 0.00002
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354 0.00002
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) rs1461886025 0.00002
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000443.4(ABCB4):c.54G>A (p.Glu18=) rs141141860 0.00002
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) rs770169131 0.00002
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) rs762828809 0.00002
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=) rs761652195 0.00002
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=) rs193922895 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=) rs775744847 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.7615-5C>T rs768008924 0.00002
NM_000601.6(HGF):c.2019T>C (p.Tyr673=) rs367800414 0.00002
NM_000823.4(GHRHR):c.870C>T (p.Val290=) rs369716383 0.00002
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) rs531009160 0.00002
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430 0.00002
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=) rs886043753 0.00002
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA rs397769084 0.00002
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=) rs993417750 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=) rs759537735 0.00002
NM_001177316.2(SLC34A3):c.449-3C>T rs757092241 0.00002
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=) rs192630206 0.00002
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=) rs775088748 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001358921.2(COQ2):c.868C>T (p.Leu290=) rs375066516 0.00002
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945 0.00002
NM_001374385.1(ATP8B1):c.3532-8C>G rs1322207888 0.00002
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=) rs751410046 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met) rs199939739 0.00002
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712 0.00002
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) rs398123627 0.00002
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) rs755517458 0.00002
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) rs554488169 0.00002
NM_001845.6(COL4A1):c.1897+7C>G rs773791331 0.00002
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=) rs771660985 0.00002
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002473.6(MYH9):c.3591C>T (p.Ala1197=) rs549408462 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=) rs1057164807 0.00002
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys) rs376775932 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_004530.6(MMP2):c.105C>T (p.Ile35=) rs764055331 0.00002
NM_004560.4(ROR2):c.1236C>T (p.Ile412=) rs752218712 0.00002
NM_004817.4(TJP2):c.2775G>A (p.Thr925=) rs374453976 0.00002
NM_004817.4(TJP2):c.2832G>A (p.Pro944=) rs191634088 0.00002
NM_004817.4(TJP2):c.972G>T (p.Gly324=) rs372333417 0.00002
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=) rs750229142 0.00002
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=) rs200261541 0.00002
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=) rs199696448 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_006899.5(IDH3B):c.1011-9T>C rs746209011 0.00002
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) rs76144052 0.00002
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=) rs201057526 0.00002
NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro) rs751956751 0.00002
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=) rs139828718 0.00002
NM_012469.4(PRPF6):c.171G>C (p.Gly57=) rs749669162 0.00002
NM_014014.5(SNRNP200):c.6093-7C>A rs201143866 0.00002
NM_014319.5(LEMD3):c.636G>A (p.Gly212=) rs771253349 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=) rs745678508 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) rs767616734 0.00002
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=) rs564010604 0.00002
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter) rs1163473923 0.00002
NM_015559.3(SETBP1):c.1933G>A (p.Glu645Lys) rs770454352 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924 0.00002
NM_018006.5(TRMU):c.83-4G>A rs369925943 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=) rs756622578 0.00002
NM_018668.5(VPS33B):c.198A>G (p.Leu66=) rs1416595652 0.00002
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00002
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) rs368114257 0.00002
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) rs374820261 0.00002
NM_022437.3(ABCG8):c.165+10C>T rs574722652 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) rs373862876 0.00002
NM_022437.3(ABCG8):c.695-7T>C rs374648568 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_025193.4(HSD3B7):c.431+7_431+8insA rs1343784849 0.00002
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly) rs377201437 0.00002
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile) rs780748586 0.00002
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=) rs373822878 0.00002
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=) rs760841840 0.00002
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His) rs779671690 0.00002
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713 0.00002
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile) rs756555904 0.00002
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys) rs775893405 0.00002
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=) rs569899625 0.00002
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala) rs771811961 0.00002
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=) rs369591434 0.00002
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00002
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=) rs141247183 0.00002
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=) rs373168555 0.00002
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=) rs199677738 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.844G>A (p.Val282Met) rs146432857 0.00002
NM_080916.3(DGUOK):c.256-6C>T rs568816337 0.00002
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) rs141810774 0.00002
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) rs141294063 0.00002
NM_145200.5(CABP4):c.531C>A (p.Ile177=) rs754194692 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=) rs773828586 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=) rs745962568 0.00002
NM_206933.4(USH2A):c.792G>A (p.Glu264=) rs886043440 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter) rs397509390 0.00002
NC_000007.14:g.24744705G>A rs754443945 0.00001
NM_000082.4(ERCC8):c.42C>T (p.Asp14=) rs886043215 0.00001
NM_000082.4(ERCC8):c.637T>C (p.Leu213=) rs752757232 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000092.5(COL4A4):c.264A>G (p.Ser88=) rs746574978 0.00001
NM_000095.3(COMP):c.1110G>A (p.Ala370=) rs780972997 0.00001
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355 0.00001
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566 0.00001
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000163.5(GHR):c.1686A>G (p.Gln562=) rs145428904 0.00001
NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) rs63749980 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.222T>C (p.Asp74=) rs755073786 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=) rs886044867 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) rs886044828 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000285.4(PEPD):c.969T>C (p.Gly323=) rs1568445341 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) rs780761880 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000362.5(TIMP3):c.255A>G (p.Glu85=) rs373801773 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) rs765570396 0.00001
NM_000392.5(ABCC2):c.2095-7C>T rs774902843 0.00001
NM_000392.5(ABCC2):c.330A>G (p.Thr110=) rs750755532 0.00001
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=) rs765304225 0.00001
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=) rs780515921 0.00001
NM_000392.5(ABCC2):c.855T>C (p.Asp285=) rs769700101 0.00001
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983 0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323 0.00001
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=) rs916276498 0.00001
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) rs748044865 0.00001
NM_000443.4(ABCB4):c.174G>A (p.Ser58=) rs772771936 0.00001
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) rs978222245 0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099 0.00001
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=) rs1435564748 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.3633+9G>A rs1554396917 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=) rs374581163 0.00001
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=) rs1172213655 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=) rs763217521 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=) rs886042553 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.2037C>A (p.Thr679=) rs571569206 0.00001
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=) rs750872878 0.00001
NM_000540.3(RYR1):c.624C>T (p.Cys208=) rs746914281 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=) rs201686887 0.00001
NM_000843.4(GRM6):c.1695G>A (p.Thr565=) rs794727907 0.00001
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=) rs768265149 0.00001
NM_001017420.3(ESCO2):c.738A>G (p.Val246=) rs886044291 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=) rs1261172926 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001083961.2(WDR62):c.2040T>C (p.His680=) rs765451882 0.00001
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=) rs779093591 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001173467.3(SP7):c.63G>A (p.Thr21=) rs542641721 0.00001
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=) rs915920618 0.00001
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=) rs921673580 0.00001
NM_001193315.2(VIPAS39):c.1221C>T (p.Phe407=) rs886044709 0.00001
NM_001193315.2(VIPAS39):c.1356+8C>T rs988006454 0.00001
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter) rs747749610 0.00001
NM_001206979.2(NR1H4):c.1353C>T (p.His451=) rs574925287 0.00001
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=) rs774819442 0.00001
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) rs540768941 0.00001
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_001292063.2(OTOG):c.7268-7T>A rs911853347 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=) rs747855074 0.00001
NM_001305581.2(LRMDA):c.602-8A>T rs565236615 0.00001
NM_001349338.3(FOXP1):c.1328A>G (p.Tyr443Cys) rs727503936 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter) rs773948197 0.00001
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=) rs754573787 0.00001
NM_001374385.1(ATP8B1):c.2209+9T>C rs377124910 0.00001
NM_001374385.1(ATP8B1):c.2932-9C>T rs776616431 0.00001
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=) rs201160977 0.00001
NM_001378414.1(HDAC4):c.339+10G>A rs199918439 0.00001
NM_001379270.1(CNGA1):c.438-6C>T rs794727950 0.00001
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=) rs376519914 0.00001
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=) rs886042162 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_002335.4(LRP5):c.2463C>T (p.Thr821=) rs778180589 0.00001
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=) rs755205426 0.00001
NM_002335.4(LRP5):c.480C>T (p.Pro160=) rs377114189 0.00001
NM_002427.4(MMP13):c.1251G>A (p.Pro417=) rs150203792 0.00001
NM_002437.5(MPV17):c.409-1G>C rs886044280 0.00001
NM_002437.5(MPV17):c.70+8T>G rs755647054 0.00001
NM_002473.6(MYH9):c.5151-5C>T rs762613036 0.00001
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=) rs765928741 0.00001
NM_002979.5(SCP2):c.1347A>G (p.Glu449=) rs376582235 0.00001
NM_002979.5(SCP2):c.648T>C (p.Phe216=) rs774694600 0.00001
NM_003073.5(SMARCB1):c.362+8G>A rs727504162 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) rs771212750 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003630.3(PEX3):c.513A>G (p.Leu171=) rs769938240 0.00001
NM_003630.3(PEX3):c.748-4A>G rs1024883914 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003659.4(AGPS):c.549A>G (p.Val183=) rs774279058 0.00001
NM_003659.4(AGPS):c.891T>C (p.Cys297=) rs755884284 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.216T>C (p.His72=) rs1174260635 0.00001
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=) rs1398103963 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=) rs200127070 0.00001
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=) rs756738723 0.00001
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn) rs760920706 0.00001
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=) rs762824612 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540 0.00001
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=) rs536279890 0.00001
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys) rs574696410 0.00001
NM_003835.4(RGS9):c.1662C>T (p.Thr554=) rs200492363 0.00001
NM_003846.3(PEX11B):c.375-7G>A rs1049689144 0.00001
NM_003977.4(AIP):c.345G>C (p.Leu115=) rs996404334 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_004086.3(COCH):c.482-4G>A rs773935807 0.00001
NM_004407.4(DMP1):c.402G>A (p.Leu134=) rs780110476 0.00001
NM_004482.4(GALNT3):c.591G>A (p.Ala197=) rs766232837 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly) rs569242465 0.00001
NM_004560.4(ROR2):c.938-6G>C rs769467387 0.00001
NM_004608.4(TBX6):c.298C>T (p.Leu100=) rs759383268 0.00001
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) rs765975804 0.00001
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) rs886043789 0.00001
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593 0.00001
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) rs761272308 0.00001
NM_004817.4(TJP2):c.966G>T (p.Arg322=) rs199857597 0.00001
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
NM_004836.7(EIF2AK3):c.2052C>G (p.Leu684=) rs1013032001 0.00001
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=) rs762693700 0.00001
NM_004839.4(HOMER2):c.33G>A (p.Ala11=) rs201522712 0.00001
NM_005199.5(CHRNG):c.806-7T>C rs773463683 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=) rs886042933 0.00001
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=) rs886044168 0.00001
NM_005708.5(GPC6):c.930G>A (p.Ser310=) rs754858999 0.00001
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) rs530734300 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr) rs555362865 0.00001
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=) rs111424326 0.00001
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) rs767430243 0.00001
NM_006059.4(LAMC3):c.4031-10G>A rs555619019 0.00001
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=) rs754122699 0.00001
NM_006129.5(BMP1):c.2745C>T (p.Thr915=) rs374251317 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_006343.3(MERTK):c.1938C>T (p.His646=) rs1309440527 0.00001
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) rs794726996 0.00001
NM_006516.4(SLC2A1):c.19-4G>A rs398124229 0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser) rs753700157 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_012193.4(FZD4):c.729C>T (p.Ile243=) rs560649393 0.00001
NM_012254.3(SLC27A5):c.1182+7C>T rs376013474 0.00001
NM_012418.4(FSCN2):c.1274-6C>T rs1048819854 0.00001
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=) rs376352502 0.00001
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) rs368225080 0.00001
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=) rs886043715 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00001
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=) rs886043610 0.00001
NM_015311.3(OBSL1):c.2681-7C>T rs1193236223 0.00001
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735 0.00001
NM_015629.4(PRPF31):c.837C>T (p.Ile279=) rs1374316824 0.00001
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) rs794727645 0.00001
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) rs576515898 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NM_017668.3(NDE1):c.513T>C (p.Asp171=) rs794727785 0.00001
NM_018006.5(TRMU):c.579G>T (p.Gly193=) rs1294405938 0.00001
NM_018006.5(TRMU):c.651+9G>A rs1006261196 0.00001
NM_018006.5(TRMU):c.705+10del rs1569081805 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850 0.00001
NM_018122.5(DARS2):c.159_160del (p.Cys54fs) rs773706813 0.00001
NM_018136.5(ASPM):c.174A>T (p.Gly58=) rs908430857 0.00001
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=) rs537034419 0.00001
NM_018451.5(CPAP):c.2457T>C (p.Tyr819=) rs780573822 0.00001
NM_018668.5(VPS33B):c.456G>T (p.Leu152=) rs997425993 0.00001
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=) rs794726942 0.00001
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=) rs150808056 0.00001
NM_020247.5(COQ8A):c.819G>A (p.Ala273=) rs371866536 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter) rs778868393 0.00001
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) rs200233879 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_021939.4(FKBP10):c.1399+8G>T rs782073490 0.00001
NM_022081.6(HPS4):c.2040C>T (p.Ser680=) rs752931351 0.00001
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) rs756336099 0.00001
NM_022124.6(CDH23):c.8065-8G>A rs376332131 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=) rs540567272 0.00001
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) rs751866338 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022437.3(ABCG8):c.1211+7A>T rs568899040 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) rs776778929 0.00001
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) rs369023184 0.00001
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) rs727504053 0.00001
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala) rs727504054 0.00001
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) rs398124388 0.00001
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=) rs201014417 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=) rs779794904 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.1937A>C (p.His646Pro) rs757197196 0.00001
NM_030665.4(RAI1):c.3720C>T (p.Val1240=) rs778274557 0.00001
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr) rs794727521 0.00001
NM_030665.4(RAI1):c.4616G>A (p.Arg1539His) rs776440167 0.00001
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr) rs782773400 0.00001
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=) rs373902384 0.00001
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met) rs376833921 0.00001
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=) rs1315101894 0.00001
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val) rs398124425 0.00001
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met) rs771468922 0.00001
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=) rs747992951 0.00001
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=) rs747728554 0.00001
NM_032119.4(ADGRV1):c.17973+7A>G rs751094041 0.00001
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) rs181146384 0.00001
NM_032119.4(ADGRV1):c.2735-8T>C rs1181016921 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr) rs368562997 0.00001
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329 0.00001
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=) rs772972763 0.00001
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val) rs1299020576 0.00001
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=) rs778011573 0.00001
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val) rs1250073917 0.00001
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) rs397517442 0.00001
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) rs546358774 0.00001
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=) rs779794474 0.00001
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080916.3(DGUOK):c.143-4G>A rs544350167 0.00001
NM_080916.3(DGUOK):c.405G>A (p.Lys135=) rs775871024 0.00001
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val) rs770950831 0.00001
NM_080916.3(DGUOK):c.808-10C>G rs758503693 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_130837.3(OPA1):c.1398T>C (p.Ala466=) rs886043473 0.00001
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.2391G>A (p.Val797=) rs375973884 0.00001
NM_153676.4(USH1C):c.966G>C (p.Arg322=) rs748749433 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_182961.4(SYNE1):c.26355C>T (p.His8785=) rs771334693 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_198506.5(LRIT3):c.654C>T (p.Val218=) rs763629262 0.00001
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=) rs727504105 0.00001
NM_198965.2(PTHLH):c.408G>A (p.Gln136=) rs753350587 0.00001
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=) rs764308981 0.00001
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=) rs1367685651 0.00001
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=) rs762771228 0.00001
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=) rs727503955 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala) rs552551256 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6958-10A>G rs727504213 0.00001
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met) rs747473434 0.00001
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=) rs201415896 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
CYP2C9*6 rs9332131
NC_000011.10:g.17634839_17634845dup rs1295062471
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=) rs886043372
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000128.4(F11):c.1560G>T (p.Gly520=) rs794727084
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=) rs151250769
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3393T>C (p.Leu1131=) rs757716138
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000195.5(HPS1):c.1653T>G (p.Thr551=) rs765995574
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) rs181729570
NM_000260.4(MYO7A):c.4441+8G>A rs766743441
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=) rs200062157
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000327.4(ROM1):c.213G>A (p.Ala71=) rs886042979
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000372.5(TYR):c.1037-10dup rs747032303
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000381.4(MID1):c.1767T>C (p.Asn589=) rs750022332
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) rs4267009
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=) rs113646094
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2620+10_2620+12del rs764566414
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=) rs1184984382
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=) rs144521346
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=) rs1554853606
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.417G>T (p.Ser139=) rs145350474
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=) rs756299268
NM_000392.5(ABCC2):c.601C>T (p.Leu201=) rs749655460
NM_000392.5(ABCC2):c.636C>A (p.Ile212=) rs1564673185
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=) rs1562837305
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) rs771303478
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) rs914166042
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) rs1562950567
NM_000443.4(ABCB4):c.3633+1G>T rs1245472904
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) rs1029350022
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000452.2(SLC10A2):c.586-4dup rs199940758
NM_000452.3(SLC10A2):c.1005G>C (p.Ser335=) rs201571450
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser) rs199894506
NM_000452.3(SLC10A2):c.39T>C (p.Val13=) rs201994393
NM_000452.3(SLC10A2):c.39T>G (p.Val13=) rs201994393
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.300C>T (p.Thr100=) rs369134247
NM_000458.4(HNF1B):c.657C>G (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000493.4(COL10A1):c.720G>A (p.Pro240=) rs112875740
NM_000515.5(GH1):c.16C>A (p.Arg6=) rs140576665
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.213-5A>G rs763548893
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=) rs753416949
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=) rs886042146
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000557.5(GDF5):c.1299C>T (p.Cys433=) rs886042958
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr) rs199699574
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000843.4(GRM6):c.2610C>T (p.Gly870=) rs61731186
NM_000875.5(IGF1R):c.885G>T (p.Gly295=) rs56303650
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=) rs62481098
NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs) rs767123748
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln) rs149998444
NM_001004334.4(GPR179):c.582C>A (p.Thr194=) rs756762102
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) rs199727236
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=) rs774215025
NM_001029883.3(PCARE):c.3813C>T (p.His1271=) rs369662857
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1]) rs782547972
NM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=) rs566207993
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) rs756065296
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=) rs769182078
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs) rs1396400378
NM_001083961.2(WDR62):c.156C>G (p.Ser52=) rs398123559
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=) rs200232641
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile) rs752898108
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser) rs727503940
NM_001127644.2(GABRA1):c.857-9dup rs3214859
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup) rs750560040
NM_001142800.2(EYS):c.9400del (p.Val3134fs) rs886042614
NM_001159773.2(CANT1):c.1026C>T (p.His342=) rs755288092
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=) rs368153798
NM_001184.4(ATR):c.1358_1359del (p.His453fs) rs886044646
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln) rs537717904
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195248.2(APTX):c.484-25_484-10del rs774597262
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) rs368563439
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) rs147844226
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=) rs1322754256
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=) rs748822553
NM_001272071.2(AP1S2):c.252T>C (p.His84=) rs727503807
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup) rs3062761
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001369268.1(ACAN):c.280_336del (p.Val94_Ile112del) rs1596130811
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001374385.1(ATP8B1):c.2209+10T>C rs1555689635
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=) rs1555693515
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=) rs748084795
NM_001374385.1(ATP8B1):c.921C>T (p.His307=) rs747429748
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter) rs1560616550
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=) rs746023380
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu) rs9813235
NM_001457.4(FLNB):c.4515-24GT[4] rs151085835
NM_001457.4(FLNB):c.5967C>T (p.Pro1989=) rs374686904
NM_001457.4(FLNB):c.6367+7G>C rs201871482
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001701.4(BAAT):c.602G>A (p.Arg201His) rs41281027
NM_001701.4(BAAT):c.9G>A (p.Gln3=) rs149369902
NM_001793.6(CDH3):c.2430C>T (p.Asn810=) rs774229703
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) rs746453469
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13] rs71752747
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_002025.4(AFF2):c.2181C>T (p.Thr727=) rs143927826
NM_002098.6(GUCA1B):c.297G>A (p.Lys99=) rs794727264
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser) rs886043368
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=) rs886043769
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del) rs72555376
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=) rs764663599
NM_002381.5(MATN3):c.132C>T (p.Pro44=) rs886043710
NM_002381.5(MATN3):c.90C>G (p.Pro30=) rs996766896
NM_002427.4(MMP13):c.287_293del (p.Cys96fs) rs886042854
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.279+9_279+11del rs751559319
NM_002437.5(MPV17):c.450C>T (p.Pro150=) rs1244633595
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) rs727504062
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003193.5(TBCE):c.660+9_660+10del rs569925016
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003392.7(WNT5A):c.141-8C>T rs188798140
NM_003477.3(PDHX):c.160+9C>T rs886042781
NM_003659.4(AGPS):c.638-7T>C rs886044553
NM_003722.5(TP63):c.435G>C (p.Ala145=) rs546908184
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=) rs34200464
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=) rs1227759001
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=) rs760948323
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=) rs371263629
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003742.4(ABCB11):c.77-8del rs746419453
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003816.3(ADAM9):c.1882-5_1882-4dup rs747974915
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly) rs797044755
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile) rs587764801
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004341.5(CAD):c.1536C>T (p.Thr512=) rs368889621
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004385.5(VCAN):c.1458G>T (p.Ser486=) rs150735474
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) rs374692105
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=) rs201913568
NM_004606.5(TAF1):c.5499GGA[2] (p.Glu1837del) rs779870273
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=) rs1403055370
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447
NM_004839.4(HOMER2):c.763-8del rs567936162
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004998.4(MYO1E):c.333-12_333-9del rs200881397
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_005422.4(TECTA):c.336T>C (p.Tyr112=) rs886043412
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=) rs141203939
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) rs776736207
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005708.5(GPC6):c.1152+9T>A rs794727797
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=) rs727504178
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2385G>A (p.Glu795=) rs373310972
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=) rs1554999033
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=) rs886042823
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg) rs144242690
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys) rs386738959
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091
NM_006261.5(PROP1):c.636T>C (p.Pro212=) rs759632048
NM_006343.3(MERTK):c.1137T>G (p.Thr379=) rs1558793454
NM_006343.3(MERTK):c.1961-4dup rs772574056
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006420.3(ARFGEF2):c.3624C>G (p.Ala1208=) rs372376922
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=) rs794727562
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=) rs758937794
NM_006486.3(FBLN1):c.279G>T (p.Thr93=) rs765918593
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=) rs886044120
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_006899.5(IDH3B):c.522G>T (p.Leu174=) rs778097475
NM_006899.5(IDH3B):c.665+8G>T rs1555781271
NM_006922.4(SCN3A):c.3844-19dup rs71028466
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007214.5(SEC63):c.340-12_340-11del rs139413431
NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=) rs536826731
NM_012254.3(SLC27A5):c.1940G>T (p.Arg647Leu) rs564295346
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=) rs956885811
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=) rs559467414
NM_012469.4(PRPF6):c.2431+9del rs779390592
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014231.5(VAMP1):c.65del (p.Pro22fs) rs886042861
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=) rs775776447
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=) rs201343293
NM_014639.4(SKIC3):c.2292-7C>T rs1554050960
NM_014639.4(SKIC3):c.3015-14dup rs745805590
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014780.5(CUL7):c.1782G>A (p.Ala594=) rs369092411
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) rs188565648
NM_014780.5(CUL7):c.2754G>A (p.Thr918=) rs138777262
NM_014920.5(CILK1):c.816A>T (p.Arg272=) rs868057037
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) rs772471723
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) rs564855597
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del) rs762761040
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=) rs376905344
NM_016239.4(MYO15A):c.534C>T (p.Ala178=) rs749146534
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016366.3(CABP2):c.201C>A (p.Ala67=) rs138981491
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) rs886044116
NM_017837.4(PIGV):c.678G>A (p.Thr226=) rs769023704
NM_018006.5(TRMU):c.102G>A (p.Val34=) rs1426898716
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.99G>A (p.Gly33=) rs1569060096
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.9830-8dup rs748383126
NM_018451.5(CPAP):c.1908C>G (p.Arg636=) rs61743613
NM_018451.5(CPAP):c.2992-17dup rs35599563
NM_018451.5(CPAP):c.3538_3539delinsTG (p.Glu1180Ter) rs1566276461
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=) rs544938560
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_019098.5(CNGB3):c.843A>G (p.Gly281=) rs1200686449
NM_020184.4(CNNM4):c.627G>A (p.Leu209=) rs1553474576
NM_020223.4(FAM20C):c.200C>A (p.Pro67His) rs538469200
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=) rs782632205
NM_021939.4(FKBP10):c.21C>T (p.Pro7=) rs781985978
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup) rs560966094
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.2532C>T (p.Asn844=) rs756454038
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=) rs1564759522
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=) rs749235545
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) rs202176869
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1884+9G>A rs759152941
NM_022437.3(ABCG8):c.1885-7T>C rs1485558944
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) rs202198142
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) rs1558811634
NM_022455.5(NSD1):c.1260A>G (p.Lys420=) rs1397377820
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val) rs375566261
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=) rs886042468
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024608.4(NEIL1):c.314dup (p.Pro106fs) rs556576971
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=) rs375417798
NM_025074.7(FRAS1):c.4857A>G (p.Val1619=) rs886044144
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030665.4(RAI1):c.139G>A (p.Ala47Thr) rs398124413
NM_030665.4(RAI1):c.2659A>G (p.Met887Val) rs794727523
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730
NM_030753.5(WNT3):c.309C>A (p.Pro103=) rs749737942
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=) rs762094907
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His) rs542081391
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) rs201747452
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=) rs1251473317
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=) rs765630970
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=) rs3763073
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val) rs747089219
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met) rs762746997
NM_032119.4(ADGRV1):c.18433-7_18433-5del rs35858094
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=) rs749630454
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys) rs558804189
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=) rs199605700
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=) rs776978539
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His) rs572910896
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=) rs794727564
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.8730+21dup rs60522638
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs) rs794727570
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu) rs78817184
NM_080680.3(COL11A2):c.1180-4A>G rs1554221961
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=) rs886044178
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1755-6dup rs748933560
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.2441-4C>G rs763386320
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_133261.3(GIPC3):c.855C>G (p.Ser285=) rs766192644
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) rs10578999
NM_152281.3(GORAB):c.420-2A>T rs1558006532
NM_153240.5(NPHP3):c.171C>A (p.Pro57=) rs778581370
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_175737.4(KLB):c.2329_2331del (p.Phe777del) rs549659598
NM_175875.5(SIX5):c.1872C>T (p.Pro624=) rs373614429
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=) rs1563330296
NM_182961.4(SYNE1):c.581+10A>G rs771573516
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_201384.3(PLEC):c.6573G>A (p.Leu2191=) rs1564019780
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=) rs794727146
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.239-1G>A rs1559100465
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp) rs398124616
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254
NM_206933.4(USH2A):c.10388-17_10388-7del rs1442627890
NM_206933.4(USH2A):c.1181C>G (p.Pro394Arg) rs775922302
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=) rs149506333
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn) rs552400144
NM_206933.4(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=) rs978359064
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=) rs1385829693
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=) rs575939496
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=) rs374146074
NM_206933.4(USH2A):c.9958+8G>T rs370383574
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=) rs374270799
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=) rs1303270704
NM_207361.6(FREM2):c.7520-10_7520-9insCT rs1399473815
Single allele

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