NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
|
rs149229493
|
0.00309
|
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)
|
rs181413143
|
0.00289
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)
|
rs2070031
|
0.00262
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001385012.1(NBEA):c.-161C>T
|
rs924269207
|
0.00176
|
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg)
|
rs36080296
|
0.00155
|
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)
|
rs6011
|
0.00144
|
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
|
rs6034
|
0.00144
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)
|
rs140537724
|
0.00140
|
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile)
|
rs145280665
|
0.00137
|
NM_016363.5(GP6):c.172C>T (p.Arg58Cys)
|
rs199588110
|
0.00125
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
NM_000930.5(PLAT):c.1481G>C (p.Gly494Ala)
|
rs61755432
|
0.00107
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
|
rs200459002
|
0.00091
|
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)
|
rs200622688
|
0.00088
|
NM_000930.5(PLAT):c.928C>T (p.Arg310Cys)
|
rs151006962
|
0.00087
|
NM_000892.5(KLKB1):c.772C>T (p.Leu258Phe)
|
rs146650319
|
0.00061
|
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln)
|
rs140354422
|
0.00061
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)
|
rs200663004
|
0.00044
|
NM_001129820.2(SLFN14):c.916G>C (p.Asp306His)
|
rs373500415
|
0.00041
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_005577.4(LPA):c.5081C>G (p.Ser1694Ter)
|
rs41267811
|
0.00016
|
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met)
|
rs183119284
|
0.00011
|
NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp)
|
rs368923302
|
0.00011
|
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)
|
rs570515282
|
0.00010
|
NM_000504.4(F10):c.1222G>A (p.Asp408Asn)
|
rs369409423
|
0.00010
|
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met)
|
rs200135215
|
0.00008
|
NM_000552.5(VWF):c.6424C>T (p.Leu2142Phe)
|
rs190741083
|
0.00006
|
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp)
|
rs768296460
|
0.00006
|
NM_004991.4(MECOM):c.951G>T (p.Lys317Asn)
|
rs373255348
|
0.00005
|
NM_030773.4(TUBB1):c.68T>C (p.Met23Thr)
|
rs374942824
|
0.00005
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)
|
rs2056451758
|
0.00004
|
NM_004991.4(MECOM):c.580T>G (p.Tyr194Asp)
|
rs745797691
|
0.00004
|
NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met)
|
rs373495718
|
0.00004
|
NM_000361.3(THBD):c.716C>T (p.Ala239Val)
|
rs886056547
|
0.00003
|
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)
|
rs144210383
|
0.00003
|
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile)
|
rs775313250
|
0.00003
|
NM_139279.6(MCFD2):c.416C>T (p.Ala139Val)
|
rs80294301
|
0.00003
|
NM_001261826.3(AP3D1):c.1246G>A (p.Glu416Lys)
|
rs772939299
|
0.00002
|
NM_016180.5(SLC45A2):c.1471G>A (p.Gly491Arg)
|
rs779983065
|
0.00002
|
NM_019616.4(F7):c.791C>T (p.Ala264Val)
|
rs760341993
|
0.00002
|
NM_000093.5(COL5A1):c.2146G>A (p.Glu716Lys)
|
rs750450695
|
0.00001
|
NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser)
|
rs750203146
|
0.00001
|
NM_000361.3(THBD):c.407T>G (p.Leu136Trp)
|
rs550522588
|
0.00001
|
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)
|
rs747843876
|
0.00001
|
NM_000821.7(GGCX):c.2012G>A (p.Arg671His)
|
rs1350379349
|
0.00001
|
NM_001098671.2(RASGRP2):c.281C>T (p.Pro94Leu)
|
rs186484036
|
0.00001
|
NM_003290.3(TPM4):c.440C>T (p.Ala147Val)
|
rs1229151800
|
0.00001
|
NM_005523.6(HOXA11):c.248A>G (p.Tyr83Cys)
|
rs778467438
|
0.00001
|
NM_005720.4(ARPC1B):c.308G>A (p.Arg103His)
|
rs11556758
|
0.00001
|
NM_018668.5(VPS33B):c.434T>C (p.Leu145Ser)
|
rs778351669
|
0.00001
|
NM_022436.3(ABCG5):c.692T>C (p.Ile231Thr)
|
rs778172526
|
0.00001
|
NM_030773.4(TUBB1):c.4C>T (p.Arg2Cys)
|
rs754294863
|
0.00001
|
NM_138272.3(MPIG6B):c.132G>C (p.Trp44Cys)
|
rs1483726517
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+175T>G
|
rs782563004
|
0.00001
|
NM_000093.5(COL5A1):c.1715C>A (p.Pro572His)
|
rs1835824786
|
|
NM_000093.5(COL5A1):c.5411C>A (p.Thr1804Asn)
|
rs755260686
|
|
NM_000173.7(GP1BA):c.1277_1313del (p.Pro426fs)
|
rs774477655
|
|
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys)
|
rs2062438405
|
|
NM_000460.4(THPO):c.610dup (p.Glu204fs)
|
rs776536238
|
|
NM_000504.4(F10):c.1406G>A (p.Arg469Lys)
|
rs771971250
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000821.7(GGCX):c.1217G>A (p.Arg406His)
|
rs139574592
|
|
NM_001098671.2(RASGRP2):c.1159C>T (p.Arg387Cys)
|
rs746056618
|
|
NM_001129820.2(SLFN14):c.1481A>G (p.Gln494Arg)
|
rs2072613042
|
|
NM_001129820.2(SLFN14):c.2686T>C (p.Ser896Pro)
|
rs2072550081
|
|
NM_001129820.2(SLFN14):c.859A>G (p.Lys287Glu)
|
rs2072659987
|
|
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)
|
rs192640536
|
|
NM_003891.3(PROZ):c.647C>T (p.Thr216Ile)
|
rs200554916
|
|
NM_005359.6(SMAD4):c.904+3A>G
|
rs1326688620
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
NM_005373.3(MPL):c.305G>A (p.Arg102His)
|
rs28928907
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_024747.6(HPS6):c.256_264dup (p.Trp86_Ala88dup)
|
rs1208203730
|
|
NM_032383.5(HPS3):c.479G>A (p.Ser160Asn)
|
rs979740599
|
|
NM_138272.3(MPIG6B):c.621G>T (p.Pro207=)
|
rs147600887
|
|