ClinVar Miner

List of variants reported as benign for eye degenerative disorder

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1049
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_004385.5(VCAN):c.9882C>T (p.Val3294=) rs308365 0.97301
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_001379500.1(COL18A1):c.107-12592T>C rs914230 0.96979
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327 0.95611
NM_000153.4(GALC):c.1251+150C>T rs417521 0.95597
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.*989G>A rs370559 0.95463
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1835-79A>G rs417276 0.95459
NM_000153.4(GALC):c.*627A>G rs413750 0.95456
NM_000153.4(GALC):c.1339-61C>T rs398343 0.95455
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_001854.4(COL11A1):c.2295+37A>T rs2622867 0.91369
NM_000521.4(HEXB):c.558+45G>A rs1665894 0.89050
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001844.5(COL2A1):c.-119C>T rs3803182 0.79564
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_012338.4(TSPAN12):c.*39C>T rs41622 0.76971
NM_012338.4(TSPAN12):c.361-34C>T rs7805733 0.76668
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_012338.4(TSPAN12):c.765G>T (p.Pro255=) rs41623 0.76026
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_000520.6(HEXA):c.*589T>G rs11629508 0.73205
NM_000520.6(HEXA):c.*515G>A rs3087652 0.73188
NM_012193.4(FZD4):c.*1298C>T rs3802892 0.70569
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_004385.5(VCAN):c.4323G>A (p.Gln1441=) rs2548541 0.67722
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_130837.3(OPA1):c.*1343A>G rs1056366 0.65902
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_130837.3(OPA1):c.*283A>G rs1061648 0.61309
NM_000153.4(GALC):c.196-43C>T rs2289511 0.59150
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_012193.4(FZD4):c.*4664T>C rs713065 0.56868
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_004385.5(VCAN):c.*1429A>G rs11726 0.54953
NM_130837.3(OPA1):c.*1113C>T rs12630 0.54101
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg) rs309559 0.50554
NM_004385.5(VCAN):c.5808T>C (p.Gly1936=) rs309557 0.50487
NM_004385.5(VCAN):c.6723A>G (p.Arg2241=) rs160279 0.50384
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_000153.4(GALC):c.*723G>A rs412915 0.49978
NM_000153.4(GALC):c.*626C>T rs432946 0.49976
NM_000153.4(GALC):c.*1453A>G rs405567 0.49973
NM_000153.4(GALC):c.1670+60C>T rs366615 0.49953
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_001854.4(COL11A1):c.274+42G>C rs11164662 0.48053
NM_130837.3(OPA1):c.*2092C>T rs1056390 0.46950
NM_130837.3(OPA1):c.*2391T>C rs11719309 0.46817
NM_001379500.1(COL18A1):c.*340G>A rs7867 0.46140
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_000153.4(GALC):c.*590T>C rs1042029 0.45472
NM_000153.4(GALC):c.*1186_*1188del rs141199615 0.45391
NM_000153.4(GALC):c.*1275G>A rs1042042 0.45032
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.*1588T>G rs17198 0.44979
NM_000153.4(GALC):c.1911+122C>G rs45567441 0.44852
NM_000153.4(GALC):c.1911+129G>A rs45626938 0.44823
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) rs1050351 0.43308
NM_001844.5(COL2A1):c.2194-55T>C rs3829737 0.43071
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_001379500.1(COL18A1):c.*16G>A rs7499 0.41352
NM_004385.5(VCAN):c.348T>C (p.Thr116=) rs12332199 0.40199
NM_012062.5(DNM1L):c.1674+36T>A rs4506737 0.40113
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_001098.3(ACO2):c.836-54T>C rs203320 0.39646
NM_001379500.1(COL18A1):c.107-12073A>G rs2236451 0.39262
NM_004385.5(VCAN):c.5477G>A (p.Arg1826His) rs188703 0.38473
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_001098.3(ACO2):c.836-118C>T rs9619974 0.36682
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_002778.4(PSAP):c.1432-22C>T rs885828 0.34727
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_004385.5(VCAN):c.645A>G (p.Val215=) rs4470745 0.33601
NM_001098.3(ACO2):c.1032+17C>T rs203319 0.33591
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_001854.4(COL11A1):c.2656-28T>C rs1903787 0.32791
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_000153.4(GALC):c.264+108G>A rs2245387 0.30074
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001854.4(COL11A1):c.3168+41T>C rs1012282 0.29091
NM_012193.4(FZD4):c.*2971T>C rs10898563 0.27626
NM_000382.3(ALDH3A2):c.153+39C>T rs4646793 0.26984
NM_000382.3(ALDH3A2):c.472-56G>A rs2072332 0.26925
NM_000382.3(ALDH3A2):c.471+31T>C rs1004491 0.25856
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_007055.4(POLR3A):c.*1965A>G rs2241546 0.24142
NM_001379500.1(COL18A1):c.107-11850G>A rs11702494 0.23796
NM_000521.4(HEXB):c.300-32C>T rs35711978 0.23197
NM_001379500.1(COL18A1):c.1674+34A>C rs12482088 0.23085
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698 0.22214
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_002778.4(PSAP):c.1431+116C>T rs749823 0.20609
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_007055.4(POLR3A):c.*1323C>T rs45570840 0.19800
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_007055.4(POLR3A):c.*1461A>G rs3088264 0.19707
NM_001376.5(DYNC1H1):c.1462-41G>A rs2983422 0.19200
NM_001854.4(COL11A1):c.*1183A>G rs9659030 0.19114
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=) rs2230688 0.17750
NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp) rs2287926 0.16841
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_004385.5(VCAN):c.*1436C>T rs15071 0.16029
NM_007055.4(POLR3A):c.*1763G>A rs4979935 0.15801
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008 0.15775
NM_012062.5(DNM1L):c.252G>A (p.Gly84=) rs2272238 0.15635
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_012062.5(DNM1L):c.120A>C (p.Ser40=) rs10844308 0.14357
NM_012062.5(DNM1L):c.918A>G (p.Thr306=) rs10844318 0.14349
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_002778.4(PSAP):c.1540-34C>T rs4747202 0.13788
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
NM_004385.5(VCAN):c.*1601T>A rs1050948 0.13706
NM_000153.4(GALC):c.195+34G>T rs143228205 0.13486
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_000096.4(CP):c.1632= (p.Glu544=) rs701753 0.13148
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile) rs62000962 0.12931
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_001379500.1(COL18A1):c.1275C>T (p.Pro425=) rs1131100 0.12789
NM_000520.6(HEXA):c.1074-94C>A rs2303449 0.12787
NM_000520.6(HEXA):c.1074-127A>T rs2303450 0.12778
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=) rs1131101 0.12488
NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=) rs2236467 0.12399
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_000153.4(GALC):c.753-59C>T rs17687364 0.11436
NM_000153.4(GALC):c.196-70G>A rs74689143 0.11432
NM_000153.4(GALC):c.583-56G>A rs79515863 0.11428
NM_000153.4(GALC):c.582+99C>T rs17798011 0.11427
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000153.4(GALC):c.1161+38T>C rs17687109 0.11416
NM_000153.4(GALC):c.621+63T>A rs17797987 0.11416
NM_000153.4(GALC):c.621+98T>C rs17797981 0.11415
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_000153.4(GALC):c.752+56T>C rs76521220 0.11410
NM_000153.4(GALC):c.329-35G>A rs77466023 0.11380
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_001379500.1(COL18A1):c.2683+702G>A rs114832456 0.11163
NM_000153.4(GALC):c.*1126G>A rs1042035 0.11091
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_130837.3(OPA1):c.*2873A>T rs10419 0.10858
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_001854.4(COL11A1):c.*105C>T rs1031820 0.10018
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_004385.5(VCAN):c.9379+7T>C rs695103 0.09623
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_000096.4(CP):c.394+20C>T rs17847023 0.08668
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.828G>A (p.Ala276=) rs2230686 0.07106
NM_007055.4(POLR3A):c.3594+11A>C rs10509396 0.06976
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_004385.5(VCAN):c.4569A>G (p.Thr1523=) rs16900528 0.06757
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_002778.4(PSAP):c.909+32G>T rs41307569 0.06451
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_000520.6(HEXA):c.806-48G>T rs73440586 0.06050
NM_000520.6(HEXA):c.1074-43C>G rs16956759 0.06040
NM_001854.4(COL11A1):c.*1105C>T rs12073619 0.05971
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) rs12241228 0.05870
NM_001844.5(COL2A1):c.*136C>T rs41272777 0.05859
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=) rs61731167 0.05785
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_004385.5(VCAN):c.9630C>T (p.His3210=) rs16900564 0.05374
NM_000153.4(GALC):c.*709A>C rs45572135 0.05219
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_004385.5(VCAN):c.9033C>A (p.Asn3011Lys) rs16900532 0.05068
NM_000520.6(HEXA):c.570+57G>A rs12440768 0.04919
NM_001854.4(COL11A1):c.*301A>G rs12731575 0.04880
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_000153.4(GALC):c.1620= (p.Thr540=) rs367327 0.04389
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_000520.6(HEXA):c.1331-46G>A rs2303448 0.04341
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_004385.5(VCAN):c.*730A>G rs8061 0.03976
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_000521.4(HEXB):c.-175G>A rs73117116 0.03911
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_007055.4(POLR3A):c.*1448A>G rs78703311 0.03839
NM_012193.4(FZD4):c.*4765T>C rs72963441 0.03760
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_001379500.1(COL18A1):c.*277T>C rs17004784 0.03626
NM_007055.4(POLR3A):c.2286C>T (p.His762=) rs16935534 0.03554
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) rs35536566 0.03553
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) rs79793998 0.03469
NM_002032.3(FTH1):c.*222C>T rs17156609 0.03454
NM_007055.4(POLR3A):c.240A>C (p.Leu80=) rs12248310 0.03445
NM_007055.4(POLR3A):c.*1862G>A rs12572507 0.03410
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_007055.4(POLR3A):c.*690C>T rs74451934 0.03200
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_001379500.1(COL18A1):c.603C>T (p.Ala201=) rs17004776 0.03174
NM_001379500.1(COL18A1):c.510A>G (p.Ala170=) rs76754353 0.03171
NM_001379500.1(COL18A1):c.420A>G (p.Thr140=) rs17004775 0.03170
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_007055.4(POLR3A):c.*426C>T rs76696077 0.03063
NM_007055.4(POLR3A):c.*1680C>G rs80022412 0.03062
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210 0.03010
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_004385.5(VCAN):c.7030C>T (p.Pro2344Ser) rs61733401 0.02963
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02837
NM_004385.5(VCAN):c.9075G>A (p.Thr3025=) rs113014073 0.02820
NM_004385.5(VCAN):c.1043-10A>G rs115912456 0.02772
NM_004385.5(VCAN):c.1045A>G (p.Lys349Glu) rs61749613 0.02772
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_001379500.1(COL18A1):c.915G>T (p.Val305=) rs17338853 0.02722
NM_004385.5(VCAN):c.8090G>A (p.Arg2697His) rs61733389 0.02711
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) rs2838952 0.02704
NM_007055.4(POLR3A):c.*1782G>A rs11817392 0.02657
NM_007055.4(POLR3A):c.*1589G>A rs16935486 0.02655
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_001379500.1(COL18A1):c.1221+14T>C rs9976881 0.02526
NM_001379500.1(COL18A1):c.2277+14G>T rs145217573 0.02518
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_000330.4(RS1):c.184+35T>C rs6633109 0.02347
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_002032.3(FTH1):c.*319G>A rs75281081 0.02107
NM_001854.4(COL11A1):c.-78T>A rs12025921 0.02079
NM_012193.4(FZD4):c.*5077C>G rs143372848 0.02078
NM_004385.5(VCAN):c.*31A>G rs17206014 0.02076
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_001844.5(COL2A1):c.*295C>T rs41272781 0.02009
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
NM_004385.5(VCAN):c.393C>T (p.Asp131=) rs35042106 0.01920
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_012193.4(FZD4):c.*2G>T rs61749246 0.01897
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004385.5(VCAN):c.426G>A (p.Thr142=) rs35031282 0.01806
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) rs35004053 0.01800
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001376.5(DYNC1H1):c.3960+16G>A rs11850726 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_012193.4(FZD4):c.*3700A>G rs115341334 0.01592
NM_012193.4(FZD4):c.*4196A>G rs138561450 0.01587
NM_012193.4(FZD4):c.*5368C>T rs79807722 0.01583
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_012193.4(FZD4):c.*3574C>T rs78806773 0.01478
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) rs11544971 0.01462
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_012193.4(FZD4):c.*1932G>C rs77424184 0.01431
NM_012193.4(FZD4):c.502C>T (p.Pro168Ser) rs61735303 0.01408
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_001379500.1(COL18A1):c.1509C>T (p.Gly503=) rs112723616 0.01339
NM_004385.5(VCAN):c.5155A>T (p.Thr1719Ser) rs113965318 0.01319
NM_004385.5(VCAN):c.5576C>A (p.Ala1859Glu) rs34050047 0.01316
NM_007055.4(POLR3A):c.*1853C>T rs11002351 0.01315
NM_004385.5(VCAN):c.*1603T>C rs10233 0.01297
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_004385.5(VCAN):c.6123C>T (p.Ile2041=) rs113659987 0.01282
NM_004385.5(VCAN):c.6237G>A (p.Lys2079=) rs80200229 0.01278
NM_012193.4(FZD4):c.*203A>G rs3740661 0.01278
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) rs3096171 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_025136.4(OPA3):c.*2469G>A rs115566341 0.01165
NM_012193.4(FZD4):c.*4775C>T rs61903831 0.01158
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser) rs76547444 0.01152
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_001379500.1(COL18A1):c.126G>A (p.Val42=) rs115800039 0.01130
NM_012193.4(FZD4):c.*2660C>T rs11234890 0.01129
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_007055.4(POLR3A):c.*1695G>A rs61152426 0.01087
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) rs12255950 0.01052
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_004385.5(VCAN):c.899C>T (p.Ser300Leu) rs2652098 0.00988
NM_004385.5(VCAN):c.4422T>C (p.Thr1474=) rs61733395 0.00980
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val) rs111512368 0.00955
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=) rs115470104 0.00930
NM_004385.5(VCAN):c.*1678G>T rs10411 0.00929
NM_130837.3(OPA1):c.*2408A>G rs73069788 0.00927
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_004385.5(VCAN):c.2065A>G (p.Thr689Ala) rs61754531 0.00895
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536 0.00819
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met) rs116111018 0.00795
NM_004385.5(VCAN):c.2378T>C (p.Leu793Ser) rs76165877 0.00793
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
NM_000382.3(ALDH3A2):c.*36G>A rs138462610 0.00775
NM_012193.4(FZD4):c.*2581G>T rs60226660 0.00774
NM_012338.4(TSPAN12):c.360+9A>G rs116938497 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_000153.4(GALC):c.*395C>T rs3850376 0.00770
NM_012193.4(FZD4):c.*2542T>C rs115557428 0.00769
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_007055.4(POLR3A):c.*1152G>A rs143418325 0.00728
NM_007055.4(POLR3A):c.3594+15G>A rs116003372 0.00728
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_000330.4(RS1):c.523-10A>C rs142428831 0.00691
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_130837.3(OPA1):c.*623G>A rs146468889 0.00689
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574 0.00680
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_130837.3(OPA1):c.*1031A>T rs114606850 0.00670
NM_012193.4(FZD4):c.*5451G>A rs58750277 0.00668
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_012193.4(FZD4):c.*827A>G rs61088092 0.00664
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_001376.5(DYNC1H1):c.13516-16C>T rs28669726 0.00656
NM_000153.4(GALC):c.195+10A>G rs191767015 0.00653
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=) rs77540138 0.00650
NM_012193.4(FZD4):c.*3402G>T rs139460265 0.00650
NM_001379500.1(COL18A1):c.*6G>A rs138930698 0.00643
NM_012193.4(FZD4):c.*4335T>C rs141874425 0.00612
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) rs147591223 0.00606
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_012193.4(FZD4):c.*2101C>G rs77034986 0.00599
NM_004385.5(VCAN):c.2887C>T (p.Pro963Ser) rs76914270 0.00597
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=) rs373748503 0.00581
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_012193.4(FZD4):c.*764T>C rs145679440 0.00573
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_004385.5(VCAN):c.2875A>T (p.Ser959Cys) rs78164236 0.00525
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758 0.00502
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) rs16935497 0.00487
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn) rs61738822 0.00478
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=) rs2230689 0.00474
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_000330.4(RS1):c.258G>A (p.Pro86=) rs147290350 0.00472
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_004385.5(VCAN):c.*1614G>T rs145490018 0.00455
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) rs116197727 0.00444
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116 0.00437
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000153.4(GALC):c.-66G>T rs146439771 0.00434
NM_007055.4(POLR3A):c.*994C>T rs148339082 0.00428
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_130837.3(OPA1):c.*220A>G rs76421015 0.00427
NM_012338.4(TSPAN12):c.*1270T>G rs147549883 0.00424
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_004385.5(VCAN):c.*1652G>C rs148439157 0.00406
NM_007055.4(POLR3A):c.*673A>G rs150842225 0.00405
NM_007055.4(POLR3A):c.*1718G>C rs144088118 0.00404
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_012193.4(FZD4):c.*947G>A rs141895567 0.00396
NM_007055.4(POLR3A):c.2247+8C>T rs147475356 0.00385
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_014249.4(NR2E3):c.1005C>A (p.Gly335=) rs142621527 0.00379
NM_007055.4(POLR3A):c.*345A>C rs74538796 0.00371
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497 0.00332
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377 0.00321
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_000330.4(RS1):c.76G>A (p.Glu26Lys) rs140983930 0.00308
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048 0.00302
NM_000153.4(GALC):c.1670+19A>T rs141839955 0.00298
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_012193.4(FZD4):c.*4883G>T rs147967476 0.00280
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_000096.4(CP):c.394+19G>A rs188121726 0.00272
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn) rs143368552 0.00271
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=) rs139453864 0.00270
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) rs753363173 0.00267
NM_012193.4(FZD4):c.*2639A>G rs145929150 0.00265
NM_004385.5(VCAN):c.*1031T>C rs548595991 0.00264
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935 0.00261
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
NM_004385.5(VCAN):c.574G>A (p.Gly192Arg) rs141008923 0.00245
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_004385.5(VCAN):c.5750A>T (p.Tyr1917Phe) rs141477510 0.00225
NM_007055.4(POLR3A):c.621G>A (p.Val207=) rs149192341 0.00223
NM_004385.5(VCAN):c.2159T>C (p.Val720Ala) rs76418670 0.00222
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.*376A>G rs142349183 0.00211
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.195+19G>A rs189853941 0.00198
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064 0.00196
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_004385.5(VCAN):c.7551C>T (p.Asp2517=) rs77870162 0.00182
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624 0.00177
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_012193.4(FZD4):c.-262C>T rs568903306 0.00168
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000520.6(HEXA):c.254-33G>A rs186468379 0.00164
NM_004385.5(VCAN):c.*910A>C rs201146484 0.00164
NM_004385.5(VCAN):c.7743T>C (p.Asp2581=) rs75771891 0.00160
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_012338.4(TSPAN12):c.*1139A>T rs192303288 0.00150
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_015560.2(OPA1):c.-172T>A rs146295726 0.00129
NM_012338.4(TSPAN12):c.*334A>T rs545129654 0.00128
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=) rs17512877 0.00110
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_001379500.1(COL18A1):c.*918C>T rs117981301 0.00108
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_001376.5(DYNC1H1):c.3157-11T>C rs367593677 0.00103
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_004385.5(VCAN):c.*961T>C rs531984651 0.00097
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001376.5(DYNC1H1):c.8637+12G>A rs17512551 0.00096
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_130837.3(OPA1):c.*2993C>A rs143991575 0.00094
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_004183.4(BEST1):c.482-15C>T rs201010315 0.00088
NM_004385.5(VCAN):c.2668G>T (p.Gly890Cys) rs146527005 0.00088
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=) rs143258359 0.00083
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu) rs145676655 0.00079
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00078
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275 0.00075
NM_012193.4(FZD4):c.*3639A>G rs577322047 0.00073
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_004385.5(VCAN):c.*18A>G rs187567161 0.00071
NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr) rs146560021 0.00071
NM_012338.4(TSPAN12):c.*998G>A rs182626886 0.00069
NM_001376.5(DYNC1H1):c.12684+19A>G rs377124918 0.00068
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_004385.5(VCAN):c.854C>T (p.Ala285Val) rs144939909 0.00066
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_000096.4(CP):c.2878+14T>C rs75520320 0.00063
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_001376.5(DYNC1H1):c.12903-14C>T rs139935428 0.00060
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293 0.00052
NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu) rs148104757 0.00051
NM_004385.5(VCAN):c.591C>T (p.Asp197=) rs148875090 0.00051
NM_012193.4(FZD4):c.*3775C>T rs112177728 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_007055.4(POLR3A):c.*1303C>T rs188968443 0.00049
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_000096.4(CP):c.2554+18G>A rs201627704 0.00046
NM_001376.5(DYNC1H1):c.11595+12T>C rs200110362 0.00046
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522 0.00046
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=) rs181697853 0.00044
NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu) rs140606678 0.00044
NM_012193.4(FZD4):c.76C>A (p.Gln26Lys) rs140601725 0.00044
NM_004385.5(VCAN):c.3201G>A (p.Glu1067=) rs201157092 0.00043
NM_004385.5(VCAN):c.9124G>A (p.Asp3042Asn) rs144214095 0.00041
NM_004385.5(VCAN):c.7374A>G (p.Thr2458=) rs148715382 0.00040
NM_012193.4(FZD4):c.*3770A>T rs182049165 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_004385.5(VCAN):c.4272A>G (p.Pro1424=) rs150960939 0.00039
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_004385.5(VCAN):c.7480G>C (p.Glu2494Gln) rs147255921 0.00038
NM_004385.5(VCAN):c.9380-4T>A rs139854446 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_000153.4(GALC):c.1147A>G (p.Ile383Val) rs199723885 0.00036
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737 0.00035
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_014249.4(NR2E3):c.966C>T (p.Cys322=) rs148900690 0.00031
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_004385.5(VCAN):c.-119A>C rs557823406 0.00030
NM_004385.5(VCAN):c.1895C>T (p.Thr632Met) rs143729093 0.00030
NM_004385.5(VCAN):c.4643C>T (p.Ser1548Leu) rs61754534 0.00030
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_000096.4(CP):c.981G>A (p.Val327=) rs144467178 0.00026
NM_001376.5(DYNC1H1):c.9774A>G (p.Gln3258=) rs528520653 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_001376.5(DYNC1H1):c.13515+18G>A rs200633553 0.00025
NM_004385.5(VCAN):c.9025G>A (p.Glu3009Lys) rs146090207 0.00024
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NC_000019.10:g.45529113G>A rs201078416 0.00022
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_004385.5(VCAN):c.9758A>G (p.Asn3253Ser) rs141195210 0.00022
NM_012193.4(FZD4):c.*1481C>T rs149837228 0.00021
NM_130837.3(OPA1):c.*2115G>A rs144079165 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=) rs34287672 0.00019
NM_004385.5(VCAN):c.160C>T (p.Pro54Ser) rs140063016 0.00019
NM_004385.5(VCAN):c.2315C>G (p.Ala772Gly) rs141007991 0.00019
NM_004385.5(VCAN):c.2943A>T (p.Thr981=) rs144070403 0.00019
NM_004385.5(VCAN):c.7715C>T (p.Ser2572Leu) rs149032014 0.00019
NM_012193.4(FZD4):c.*4518C>G rs542033644 0.00019
NM_012193.4(FZD4):c.-130C>T rs544568108 0.00019
NM_012338.4(TSPAN12):c.-43G>A rs377745738 0.00019
NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr) rs144502710 0.00018
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) rs192742245 0.00017
NM_004385.5(VCAN):c.6322C>G (p.Gln2108Glu) rs62364883 0.00017
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_000096.4(CP):c.457G>A (p.Glu153Lys) rs138646392 0.00016
NM_000153.4(GALC):c.1251+18A>G rs369997150 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=) rs75222922 0.00016
NM_004385.5(VCAN):c.221A>G (p.Asn74Ser) rs144766017 0.00016
NM_004385.5(VCAN):c.3094C>G (p.Gln1032Glu) rs201255257 0.00016
NM_012193.4(FZD4):c.*135C>T rs377696818 0.00016
NM_012193.4(FZD4):c.1405G>A (p.Ala469Thr) rs185157734 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_004183.4(BEST1):c.*45T>C rs201586629 0.00015
NM_004385.5(VCAN):c.1369G>A (p.Glu457Lys) rs145029761 0.00015
NM_004385.5(VCAN):c.6127G>A (p.Glu2043Lys) rs138937534 0.00015
NM_004385.5(VCAN):c.9291G>A (p.Pro3097=) rs375652154 0.00015
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_004385.5(VCAN):c.157C>T (p.Pro53Ser) rs201466502 0.00014
NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) rs144610900 0.00014
NM_004385.5(VCAN):c.5615C>T (p.Pro1872Leu) rs150017263 0.00014
NM_004385.5(VCAN):c.7638C>T (p.Asp2546=) rs144914004 0.00014
NM_004385.5(VCAN):c.7966A>G (p.Thr2656Ala) rs756823982 0.00014
NM_012193.4(FZD4):c.*4079G>A rs562725038 0.00014
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500 0.00013
NM_001376.5(DYNC1H1):c.8584G>A (p.Asp2862Asn) rs139461837 0.00013
NM_004385.5(VCAN):c.7581C>T (p.Phe2527=) rs149880697 0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001844.5(COL2A1):c.147G>A (p.Pro49=) rs372734539 0.00012
NM_004385.5(VCAN):c.1896G>A (p.Thr632=) rs377633742 0.00012
NM_004385.5(VCAN):c.2925T>C (p.Leu975=) rs139028655 0.00012
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_001376.5(DYNC1H1):c.13667G>A (p.Cys4556Tyr) rs142519155 0.00011
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164 0.00011
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe) rs141725839 0.00011
NM_004385.5(VCAN):c.8089C>T (p.Arg2697Cys) rs146336600 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328 0.00010
NM_004385.5(VCAN):c.*1081C>T rs78087172 0.00010
NM_004385.5(VCAN):c.2220T>C (p.Ser740=) rs201834775 0.00010
NM_004385.5(VCAN):c.5190A>G (p.Gly1730=) rs201888251 0.00010
NM_004385.5(VCAN):c.6649C>T (p.Pro2217Ser) rs139730890 0.00010
NM_004385.5(VCAN):c.7035G>A (p.Thr2345=) rs200757689 0.00010
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu) rs201256460 0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_001376.5(DYNC1H1):c.11460+18_11460+57del rs768638049 0.00009
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217 0.00009
NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys) rs188853533 0.00009
NM_004385.5(VCAN):c.5526C>T (p.Ala1842=) rs150593011 0.00009
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_001376.5(DYNC1H1):c.12102+20C>T rs200362531 0.00008
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004385.5(VCAN):c.7371C>T (p.Thr2457=) rs199626605 0.00008
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) rs199559258 0.00008
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601 0.00007
NM_004385.5(VCAN):c.*218G>A rs532122355 0.00007
NM_004385.5(VCAN):c.1192G>A (p.Val398Met) rs186214606 0.00007
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val) rs183984308 0.00007
NM_012193.4(FZD4):c.*4618G>A rs147043943 0.00007
NM_012338.4(TSPAN12):c.*1243A>T rs189221112 0.00007
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_004385.5(VCAN):c.*1296A>G rs572066915 0.00006
NM_004385.5(VCAN):c.329T>G (p.Val110Gly) rs750836310 0.00006
NM_004385.5(VCAN):c.5202G>A (p.Thr1734=) rs138599596 0.00006
NM_004385.5(VCAN):c.7884C>A (p.Asn2628Lys) rs201327923 0.00006
NM_012193.4(FZD4):c.*647A>G rs552492300 0.00006
NM_012193.4(FZD4):c.1009C>A (p.His337Asn) rs146895719 0.00006
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_130837.3(OPA1):c.678+13G>C rs561115644 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_000330.4(RS1):c.7C>G (p.Arg3Gly) rs571944937 0.00005
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=) rs373496930 0.00005
NM_001376.5(DYNC1H1):c.13407G>A (p.Val4469=) rs1445271324 0.00005
NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu) rs747348966 0.00005
NM_004385.5(VCAN):c.*672A>G rs532790573 0.00005
NM_004385.5(VCAN):c.*89A>G rs369600306 0.00005
NM_012193.4(FZD4):c.*799A>G rs573013571 0.00005
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252 0.00004
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg) rs368026551 0.00004
NM_001376.5(DYNC1H1):c.5239-12T>C rs377506256 0.00004
NM_001376.5(DYNC1H1):c.5364C>T (p.Thr1788=) rs748651294 0.00004
NM_001376.5(DYNC1H1):c.5594A>G (p.Lys1865Arg) rs146678667 0.00004
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_004385.5(VCAN):c.8338C>T (p.Leu2780=) rs541755820 0.00004
NM_004385.5(VCAN):c.8683G>C (p.Asp2895His) rs202198791 0.00004
NM_004385.5(VCAN):c.9009G>A (p.Thr3003=) rs200462738 0.00004
NM_004385.5(VCAN):c.9275G>C (p.Arg3092Pro) rs528022086 0.00004
NM_004385.5(VCAN):c.9619A>G (p.Ile3207Val) rs763005838 0.00004
NM_012193.4(FZD4):c.*3888G>A rs541479825 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_000096.4(CP):c.1038C>T (p.Ala346=) rs146895584 0.00003
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr) rs748133009 0.00003
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821 0.00003
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile) rs561339487 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) rs757536535 0.00003
NM_004385.5(VCAN):c.1457C>T (p.Ser486Leu) rs186544077 0.00003
NM_004385.5(VCAN):c.690T>C (p.Tyr230=) rs539798172 0.00003
NM_004385.5(VCAN):c.6943G>C (p.Val2315Leu) rs3734094 0.00003
NM_012193.4(FZD4):c.-12C>A rs532417375 0.00003
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001376.5(DYNC1H1):c.3765C>T (p.Thr1255=) rs150953878 0.00002
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn) rs776226690 0.00002
NM_001376.5(DYNC1H1):c.5717-8T>G rs748085549 0.00002
NM_001376.5(DYNC1H1):c.6660G>A (p.Leu2220=) rs567417919 0.00002
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys) rs780160519 0.00002
NM_004385.5(VCAN):c.5681T>C (p.Val1894Ala) rs780104369 0.00002
NM_004385.5(VCAN):c.7999G>C (p.Gly2667Arg) rs774497812 0.00002
NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu) rs755806449 0.00002
NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile) rs774728139 0.00002
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_001376.5(DYNC1H1):c.11749A>C (p.Ser3917Arg) rs201024297 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn) rs749297332 0.00001
NM_001376.5(DYNC1H1):c.13449C>T (p.Ser4483=) rs112444677 0.00001
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser) rs571005578 0.00001
NM_001376.5(DYNC1H1):c.270T>C (p.Asp90=) rs760330950 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5818-17C>A rs563758908 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7627G>A (p.Gly2543Arg) rs892693926 0.00001
NM_001379500.1(COL18A1):c.*1129A>C rs576842258 0.00001
NM_004385.5(VCAN):c.1794G>A (p.Glu598=) rs760822691 0.00001
NM_004385.5(VCAN):c.3282A>G (p.Pro1094=) rs140613404 0.00001
NM_004385.5(VCAN):c.7885C>A (p.Leu2629Ile) rs531546493 0.00001
NM_004385.5(VCAN):c.909C>T (p.Ser303=) rs754375176 0.00001
NM_012193.4(FZD4):c.*128G>A rs530994733 0.00001
NM_012193.4(FZD4):c.*2517A>G rs556412849 0.00001
NM_012193.4(FZD4):c.1440A>G (p.Lys480=) rs751738021 0.00001
NM_012338.4(TSPAN12):c.-127G>T rs541379054 0.00001
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.1209-11del rs748250466
NM_000096.4(CP):c.1209-11dup rs748250466
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15_2286-14del rs201677287
NM_000096.4(CP):c.2286-4del rs561633350
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+19dup
NM_000096.4(CP):c.694C>T (p.Leu232=)
NM_000153.4(GALC):c.-287G>A rs73312836
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1162-4dup rs11300320
NM_000153.4(GALC):c.1339-8dup rs779423756
NM_000153.4(GALC):c.1671-10dup
NM_000153.4(GALC):c.196-19del
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.196-3dup rs561184126
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.583-108G>T rs17797993
NM_000153.4(GALC):c.753-13_753-12dup rs533067313
NM_000153.4(GALC):c.753-5dup rs533067313
NM_000153.4(GALC):c.909-3del rs1212915595
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877CA[1]
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.1207+130del rs59755039
NM_000382.3(ALDH3A2):c.681-37_681-30del rs3034928
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+19del
NM_000521.4(HEXB):c.*82_*83del rs56312827
NM_000521.4(HEXB):c.1170-11del
NM_000521.4(HEXB):c.1170-11dup
NM_000521.4(HEXB):c.446-16dup
NM_000521.4(HEXB):c.512-112T>G rs1696979
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_001098.3(ACO2):c.174-52G>T rs2076199
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001376.5(DYNC1H1):c.11055+22dup rs777865098
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=) rs777210028
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)
NM_001376.5(DYNC1H1):c.12564G>A (p.Ala4188=) rs370064490
NM_001376.5(DYNC1H1):c.12685-3del rs751203379
NM_001376.5(DYNC1H1):c.13118G>A (p.Arg4373His) rs1366928812
NM_001376.5(DYNC1H1):c.13515+17C>G
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)
NM_001376.5(DYNC1H1):c.3296A>G (p.Lys1099Arg)
NM_001376.5(DYNC1H1):c.3565-12dup
NM_001376.5(DYNC1H1):c.3804+20del
NM_001376.5(DYNC1H1):c.6144A>G (p.Leu2048=)
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6222-9_6222-7del rs747347010
NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)
NM_001376.5(DYNC1H1):c.6858-15dup
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs769311346
NM_001376.5(DYNC1H1):c.7158G>A (p.Pro2386=) rs773186619
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=) rs532073330
NM_001376.5(DYNC1H1):c.9469-8del
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001376.5(DYNC1H1):c.9643-6C>T
NM_001379500.1(COL18A1):c.*1148_*1149insCA rs78063943
NM_001379500.1(COL18A1):c.*306G>C rs17004785
NM_001379500.1(COL18A1):c.*71G>A rs8199
NM_001379500.1(COL18A1):c.*852G>C rs17004786
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=) rs1131102
NM_001379500.1(COL18A1):c.1312-37G>A rs9979845
NM_001379500.1(COL18A1):c.1398+7C>G rs74439012
NM_001379500.1(COL18A1):c.2157+14G>A rs200650755
NM_001379500.1(COL18A1):c.2157+79dup rs148502711
NM_001379500.1(COL18A1):c.2577+37del rs397867048
NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=)
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.3495+14del rs3835286
NM_001379500.1(COL18A1):c.624G>A (p.Ala208=) rs76148908
NM_001379500.1(COL18A1):c.776G>T (p.Arg259Leu) rs62000965
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=) rs2230687
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=) rs2230687
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3817-13dup rs34228277
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup) rs72555376
NM_002778.4(PSAP):c.1193-26G>A rs3747860
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_004183.4(BEST1):c.868-99G>T rs195158
NM_004385.5(VCAN):c.*1266G>C rs544686778
NM_004385.5(VCAN):c.*1548del rs397998455
NM_004385.5(VCAN):c.*1717C>A rs537687030
NM_004385.5(VCAN):c.*816C>A rs111455323
NM_004385.5(VCAN):c.1009C>G (p.Pro337Ala) rs199827515
NM_004385.5(VCAN):c.1650C>T (p.Phe550=) rs532077063
NM_004385.5(VCAN):c.3188T>C (p.Leu1063Pro) rs61754532
NM_004385.5(VCAN):c.630C>T (p.Ile210=) rs538498172
NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr) rs160278
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.8362A>G (p.Met2788Val) rs201444192
NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr) rs160277
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380
NM_007055.4(POLR3A):c.*272G>C rs2241547
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.1771-6C>T rs115020338
NM_012193.4(FZD4):c.*2047C>T rs527339048
NM_012193.4(FZD4):c.*2960T>C rs59987244
NM_012338.4(TSPAN12):c.-277C>T rs549451459
NM_014249.4(NR2E3):c.195C>T (p.Asn65=) rs367603365
NM_014249.4(NR2E3):c.76A>C (p.Lys26Gln) rs373237215
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_018082.6(POLR3B):c.1102-3dup rs202125845
NM_018082.6(POLR3B):c.1102-4_1102-3dup rs202125845
NM_018082.6(POLR3B):c.72+184_72+188del rs139244819
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.143-5dup
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_130837.3(OPA1):c.*1610C>A rs73069785
NM_130837.3(OPA1):c.*560T>C rs7643844
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448

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