NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)
|
rs10882993
|
0.74523
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
NM_004820.5(CYP7B1):c.122+19A>T
|
rs7842714
|
0.39118
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)
|
rs3825798
|
0.19899
|
NM_002156.5(HSPD1):c.69T>C (p.Thr23=)
|
rs1050347
|
0.16721
|
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)
|
rs7143196
|
0.14152
|
NM_005619.5(RTN2):c.96T>C (p.Ser32=)
|
rs10401270
|
0.12040
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_024306.5(FA2H):c.1039+16T>G
|
rs7193407
|
0.07963
|
NM_020944.3(GBA2):c.33C>T (p.Thr11=)
|
rs34312177
|
0.06991
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04741
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03993
|
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)
|
rs17104689
|
0.03409
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
NC_000008.11:g.64798895G>C
|
rs117576566
|
0.02967
|
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile)
|
rs17108378
|
0.02833
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
NM_015346.4(ZFYVE26):c.2332+7del
|
rs145183291
|
0.02598
|
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=)
|
rs16887018
|
0.02568
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)
|
rs75060573
|
0.01901
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
NM_015346.4(ZFYVE26):c.6987-3C>T
|
rs76728509
|
0.01610
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_020435.4(GJC2):c.108C>T (p.Ile36=)
|
rs75469429
|
0.01203
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=)
|
rs74850270
|
0.00847
|
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)
|
rs760502262
|
0.00823
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)
|
rs61742500
|
0.00776
|
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)
|
rs61742502
|
0.00775
|
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)
|
rs140540720
|
0.00750
|
NM_004984.4(KIF5A):c.820-19G>T
|
rs181688415
|
0.00736
|
NM_005619.5(RTN2):c.1593C>T (p.Ala531=)
|
rs148630935
|
0.00720
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_004984.4(KIF5A):c.396+14G>A
|
rs17119769
|
0.00700
|
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)
|
rs78827970
|
0.00691
|
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)
|
rs116890187
|
0.00606
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_001478.5(B4GALNT1):c.812-7A>T
|
rs78105569
|
0.00555
|
NM_005619.5(RTN2):c.444C>G (p.Gly148=)
|
rs139232850
|
0.00550
|
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)
|
rs28463775
|
0.00543
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)
|
rs17419023
|
0.00508
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_015346.4(ZFYVE26):c.6588+7C>T
|
rs186040735
|
0.00471
|
NM_004733.4(SLC33A1):c.1482+7A>G
|
rs149522913
|
0.00458
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_005619.5(RTN2):c.351A>G (p.Gln117=)
|
rs144028452
|
0.00450
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_007175.8(ERLIN2):c.816T>C (p.Asn272=)
|
rs142722211
|
0.00412
|
NM_015346.4(ZFYVE26):c.5484+13G>A
|
rs140117984
|
0.00407
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_001012301.4(ARSI):c.87C>T (p.Ala29=)
|
rs200012526
|
0.00369
|
NM_015346.4(ZFYVE26):c.5653+16G>A
|
rs140437859
|
0.00367
|
NM_015346.4(ZFYVE26):c.2401+13C>G
|
rs77104978
|
0.00360
|
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)
|
rs144007962
|
0.00349
|
NM_014363.6(SACS):c.171+13C>T
|
rs374672041
|
0.00347
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)
|
rs144922627
|
0.00332
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_001478.5(B4GALNT1):c.768G>A (p.Pro256=)
|
rs144400738
|
0.00329
|
NM_001478.5(B4GALNT1):c.1455C>G (p.Ser485=)
|
rs145611777
|
0.00327
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=)
|
rs138164407
|
0.00311
|
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)
|
rs61733871
|
0.00293
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=)
|
rs147546892
|
0.00291
|
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)
|
rs143981992
|
0.00291
|
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)
|
rs76525703
|
0.00287
|
NM_007347.5(AP4E1):c.852A>G (p.Leu284=)
|
rs114575519
|
0.00287
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)
|
rs148552744
|
0.00276
|
NM_015346.4(ZFYVE26):c.2401+11T>A
|
rs191741115
|
0.00274
|
NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=)
|
rs74935043
|
0.00272
|
NM_015346.4(ZFYVE26):c.7371+18C>T
|
rs149769693
|
0.00272
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_014363.6(SACS):c.2721G>A (p.Leu907=)
|
rs140118958
|
0.00255
|
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)
|
rs35512910
|
0.00250
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_015346.4(ZFYVE26):c.7417-5G>C
|
rs201771769
|
0.00236
|
NM_007347.5(AP4E1):c.2346+10C>T
|
rs112190952
|
0.00228
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)
|
rs76327447
|
0.00220
|
NM_024306.5(FA2H):c.847G>A (p.Val283Ile)
|
rs138244546
|
0.00220
|
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile)
|
rs142676629
|
0.00214
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)
|
rs139279302
|
0.00192
|
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)
|
rs140017632
|
0.00191
|
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)
|
rs149571533
|
0.00190
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)
|
rs142277193
|
0.00188
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294
|
0.00156
|
NM_001012301.4(ARSI):c.1242C>T (p.Ala414=)
|
rs148519839
|
0.00155
|
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)
|
rs141357756
|
0.00155
|
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)
|
rs200545714
|
0.00152
|
NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=)
|
rs138543433
|
0.00148
|
NM_001478.5(B4GALNT1):c.1135C>T (p.Leu379=)
|
rs151177784
|
0.00147
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_014846.4(WASHC5):c.*3del
|
rs569426560
|
0.00146
|
NM_001478.5(B4GALNT1):c.1385-10C>T
|
rs200524912
|
0.00143
|
NM_002156.5(HSPD1):c.700+8C>T
|
rs185384719
|
0.00143
|
NM_007175.8(ERLIN2):c.557+8T>C
|
rs181608326
|
0.00141
|
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu)
|
rs148477072
|
0.00141
|
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)
|
rs114797034
|
0.00140
|
NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr)
|
rs147301375
|
0.00138
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_020944.3(GBA2):c.815T>C (p.Val272Ala)
|
rs142602400
|
0.00133
|
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)
|
rs144708625
|
0.00131
|
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys)
|
rs61755731
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_020944.3(GBA2):c.1146G>A (p.Thr382=)
|
rs144060698
|
0.00126
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)
|
rs147494935
|
0.00113
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)
|
rs148817957
|
0.00109
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met)
|
rs144790966
|
0.00107
|
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)
|
rs200243306
|
0.00105
|
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=)
|
rs112575270
|
0.00103
|
NM_004984.4(KIF5A):c.714+8G>A
|
rs199624091
|
0.00101
|
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)
|
rs113155897
|
0.00100
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser)
|
rs148983337
|
0.00086
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)
|
rs142883889
|
0.00081
|
NM_004187.5(KDM5C):c.108C>T (p.Pro36=)
|
rs139309563
|
0.00077
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
|
rs147632811
|
0.00075
|
NM_004187.5(KDM5C):c.408G>C (p.Arg136=)
|
rs149293316
|
0.00074
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_020435.4(GJC2):c.147C>T (p.Asp49=)
|
rs139992251
|
0.00071
|
NM_001128126.3(AP4S1):c.306+42G>A
|
rs74807133
|
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_024306.5(FA2H):c.537G>A (p.Leu179=)
|
rs75711361
|
0.00068
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys)
|
rs140506776
|
0.00066
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)
|
rs181854355
|
0.00056
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
NM_007175.8(ERLIN2):c.558-20C>T
|
rs76777169
|
0.00055
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=)
|
rs139178593
|
0.00052
|
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro)
|
rs145666414
|
0.00052
|
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_001128126.3(AP4S1):c.306+4283C>T
|
rs143795469
|
0.00050
|
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys)
|
rs148270789
|
0.00049
|
NM_004187.5(KDM5C):c.465C>T (p.Ser155=)
|
rs138520224
|
0.00048
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=)
|
rs146793500
|
0.00044
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln)
|
rs148661902
|
0.00042
|
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)
|
rs143624283
|
0.00042
|
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=)
|
rs143291826
|
0.00040
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
NM_001478.5(B4GALNT1):c.1144-7C>T
|
rs370107238
|
0.00038
|
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
|
rs145062338
|
0.00038
|
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=)
|
rs199661695
|
0.00037
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
NM_004733.4(SLC33A1):c.288A>C (p.Pro96=)
|
rs200885656
|
0.00035
|
NM_014363.6(SACS):c.3828A>G (p.Pro1276=)
|
rs369988818
|
0.00035
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
NM_001012301.4(ARSI):c.737G>A (p.Arg246His)
|
rs143734494
|
0.00033
|
NM_001012301.4(ARSI):c.1135G>A (p.Glu379Lys)
|
rs200384227
|
0.00032
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
NM_005619.5(RTN2):c.1241+12C>T
|
rs185630222
|
0.00032
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln)
|
rs185418119
|
0.00031
|
NM_001278116.2(L1CAM):c.630C>T (p.His210=)
|
rs28933683
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_001278116.2(L1CAM):c.1547-4T>A
|
rs200148275
|
0.00030
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_005619.5(RTN2):c.1450+17G>A
|
rs200479692
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
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_001278116.2(L1CAM):c.113C>T (p.Thr38Met)
|
rs201151358
|
0.00027
|
NM_020944.3(GBA2):c.1395G>A (p.Pro465=)
|
rs149501146
|
0.00027
|
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=)
|
rs370000816
|
0.00026
|
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)
|
rs542940704
|
0.00024
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_004984.4(KIF5A):c.60C>T (p.Asn20=)
|
rs200876187
|
0.00021
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
NM_024306.5(FA2H):c.271-8C>A
|
rs199610820
|
0.00021
|
NM_001012301.4(ARSI):c.680G>A (p.Arg227His)
|
rs144405126
|
0.00020
|
NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys)
|
rs200789237
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=)
|
rs114935472
|
0.00020
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00019
|
NM_004187.5(KDM5C):c.1734C>T (p.Ser578=)
|
rs200941258
|
0.00019
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)
|
rs150532740
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)
|
rs200340910
|
0.00019
|
NM_001278116.2(L1CAM):c.1547-18C>T
|
rs200876938
|
0.00018
|
NM_004187.5(KDM5C):c.4039-4G>A
|
rs371746707
|
0.00018
|
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser)
|
rs141278078
|
0.00018
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00017
|
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=)
|
rs150419364
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_004984.4(KIF5A):c.2040G>A (p.Val680=)
|
rs117670788
|
0.00016
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=)
|
rs4898371
|
0.00014
|
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
NM_004187.5(KDM5C):c.4117+9A>G
|
rs367909568
|
0.00014
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro)
|
rs147837803
|
0.00014
|
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)
|
rs200179480
|
0.00014
|
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)
|
rs750198250
|
0.00014
|
NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=)
|
rs138472735
|
0.00014
|
NM_006517.5(SLC16A2):c.634G>A (p.Ala212Thr)
|
rs376266144
|
0.00013
|
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser)
|
rs145541719
|
0.00013
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
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_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)
|
rs200815347
|
0.00012
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
NM_007347.5(AP4E1):c.1815C>T (p.Ser605=)
|
rs759539551
|
0.00012
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr)
|
rs142944337
|
0.00012
|
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=)
|
rs149733911
|
0.00011
|
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=)
|
rs15594
|
0.00011
|
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)
|
rs187436884
|
0.00011
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_015346.4(ZFYVE26):c.5321-3C>T
|
rs376234357
|
0.00011
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00010
|
NM_004820.5(CYP7B1):c.850+5G>C
|
rs202155727
|
0.00010
|
NM_004984.4(KIF5A):c.152G>A (p.Arg51His)
|
rs773336059
|
0.00010
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg)
|
rs140303247
|
0.00010
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_001278116.2(L1CAM):c.1547-14C>T
|
rs145192924
|
0.00009
|
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)
|
rs201081454
|
0.00009
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=)
|
rs200206375
|
0.00009
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)
|
rs767818359
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr)
|
rs143913941
|
0.00009
|
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)
|
rs199888009
|
0.00008
|
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=)
|
rs782341083
|
0.00008
|
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val)
|
rs370546591
|
0.00008
|
NM_002156.5(HSPD1):c.175-7C>T
|
rs374694909
|
0.00008
|
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=)
|
rs373545419
|
0.00008
|
NM_004187.5(KDM5C):c.792G>T (p.Gly264=)
|
rs782585482
|
0.00008
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=)
|
rs535511484
|
0.00008
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)
|
rs373740172
|
0.00008
|
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)
|
rs534497092
|
0.00008
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_001278116.2(L1CAM):c.1703+10G>C
|
rs781848372
|
0.00007
|
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=)
|
rs200561489
|
0.00007
|
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu)
|
rs201474883
|
0.00007
|
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His)
|
rs782413552
|
0.00007
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
NM_004984.4(KIF5A):c.820-9C>A
|
rs185306438
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
0.00007
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)
|
rs758563983
|
0.00007
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=)
|
rs200799618
|
0.00006
|
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=)
|
rs373931846
|
0.00006
|
NM_004187.5(KDM5C):c.3439-13C>A
|
rs45494602
|
0.00006
|
NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val)
|
rs200914930
|
0.00006
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
|
rs770895110
|
0.00006
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
NM_001278116.2(L1CAM):c.400+9C>T
|
rs201057718
|
0.00005
|
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met)
|
rs199796566
|
0.00005
|
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=)
|
rs111597352
|
0.00005
|
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser)
|
rs782770109
|
0.00005
|
NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile)
|
rs782529520
|
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_005619.5(RTN2):c.939del (p.Thr314fs)
|
rs768449676
|
0.00005
|
NM_006517.5(SLC16A2):c.525C>T (p.Thr175=)
|
rs754816447
|
0.00005
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00005
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu)
|
rs761261049
|
0.00005
|
NM_020944.3(GBA2):c.2425G>A (p.Val809Ile)
|
rs778985234
|
0.00005
|
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)
|
rs747965749
|
0.00005
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=)
|
rs782495914
|
0.00004
|
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326
|
0.00004
|
NM_001278116.2(L1CAM):c.3542+14G>A
|
rs782488294
|
0.00004
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln)
|
rs200809259
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)
|
rs372800597
|
0.00004
|
NM_004820.5(CYP7B1):c.850+18A>T
|
rs374380529
|
0.00004
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln)
|
rs144277716
|
0.00004
|
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met)
|
rs201039304
|
0.00004
|
NM_006517.5(SLC16A2):c.676C>T (p.Arg226Cys)
|
rs201194222
|
0.00004
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
0.00004
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.12367A>G (p.Met4123Val)
|
rs772068772
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_020435.4(GJC2):c.285G>A (p.Leu95=)
|
rs148764840
|
0.00004
|
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=)
|
rs387906970
|
0.00003
|
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=)
|
rs182851917
|
0.00003
|
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile)
|
rs200006286
|
0.00003
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)
|
rs1064796541
|
0.00003
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=)
|
rs45442400
|
0.00003
|
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His)
|
rs782272528
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)
|
rs201281307
|
0.00003
|
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg)
|
rs758987045
|
0.00003
|
NM_004984.4(KIF5A):c.750C>T (p.Asp250=)
|
rs375693647
|
0.00003
|
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu)
|
rs773263889
|
0.00003
|
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys)
|
rs756384880
|
0.00003
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)
|
rs201339450
|
0.00003
|
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met)
|
rs771937001
|
0.00003
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
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.1387G>A (p.Glu463Lys)
|
rs202175564
|
0.00002
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=)
|
rs201372074
|
0.00002
|
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys)
|
rs200688598
|
0.00002
|
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys)
|
rs1172761444
|
0.00002
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
NM_001278116.2(L1CAM):c.3322+19G>A
|
rs375076231
|
0.00002
|
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)
|
rs782420127
|
0.00002
|
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=)
|
rs782223025
|
0.00002
|
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys)
|
rs782423426
|
0.00002
|
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala)
|
rs782426227
|
0.00002
|
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg)
|
rs782367133
|
0.00002
|
NM_004733.4(SLC33A1):c.540T>A (p.Thr180=)
|
rs1020651893
|
0.00002
|
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=)
|
rs1471365409
|
0.00002
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)
|
rs748248329
|
0.00002
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
NM_004984.4(KIF5A):c.2538+8T>G
|
rs377005699
|
0.00002
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
|
rs146202502
|
0.00002
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys)
|
rs756065515
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=)
|
rs144063215
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_020944.3(GBA2):c.2054+6C>T
|
rs148315388
|
0.00002
|
NM_020944.3(GBA2):c.515G>A (p.Arg172His)
|
rs200268523
|
0.00002
|
NM_024306.5(FA2H):c.771C>T (p.His257=)
|
rs371293493
|
0.00002
|
NM_001128126.3(AP4S1):c.294+1G>T
|
rs886041127
|
0.00001
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)
|
rs371999853
|
0.00001
|
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu)
|
rs1557091552
|
0.00001
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu)
|
rs782568205
|
0.00001
|
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=)
|
rs201886318
|
0.00001
|
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)
|
rs782097679
|
0.00001
|
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)
|
rs199822230
|
0.00001
|
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)
|
rs149420127
|
0.00001
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=)
|
rs199910719
|
0.00001
|
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val)
|
rs781860875
|
0.00001
|
NM_001278116.2(L1CAM):c.3543-11T>C
|
rs782225211
|
0.00001
|
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=)
|
rs375862497
|
0.00001
|
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)
|
rs782615469
|
0.00001
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser)
|
rs748660256
|
0.00001
|
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp)
|
rs1018074229
|
0.00001
|
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His)
|
rs1556836492
|
0.00001
|
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=)
|
rs782180827
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
NM_004820.5(CYP7B1):c.339A>G (p.Val113=)
|
rs770923196
|
0.00001
|
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)
|
rs754730601
|
0.00001
|
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=)
|
rs746555297
|
0.00001
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=)
|
rs770297402
|
0.00001
|
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter)
|
rs1555178348
|
0.00001
|
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr)
|
rs757751684
|
0.00001
|
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His)
|
rs765503816
|
0.00001
|
NM_004984.4(KIF5A):c.2571G>A (p.Glu857=)
|
rs747531341
|
0.00001
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
|
rs751496558
|
0.00001
|
NM_004984.4(KIF5A):c.531G>A (p.Pro177=)
|
rs771476833
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_005619.5(RTN2):c.389C>T (p.Ala130Val)
|
rs745409162
|
0.00001
|
NM_005619.5(RTN2):c.79+6T>A
|
rs749104931
|
0.00001
|
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His)
|
rs780086745
|
0.00001
|
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr)
|
rs149254654
|
0.00001
|
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=)
|
rs557252541
|
0.00001
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
0.00001
|
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)
|
rs1237437677
|
0.00001
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro)
|
rs771914413
|
0.00001
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.2289A>G (p.Gln763=)
|
rs765734527
|
0.00001
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
|
rs769153924
|
0.00001
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
|
rs746764976
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_015346.4(ZFYVE26):c.1170G>A (p.Leu390=)
|
rs532292359
|
0.00001
|
NM_015346.4(ZFYVE26):c.1272-10T>C
|
rs773153713
|
0.00001
|
NM_015346.4(ZFYVE26):c.1819G>A (p.Gly607Arg)
|
rs142015707
|
0.00001
|
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=)
|
rs766701632
|
0.00001
|
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser)
|
rs1021631118
|
0.00001
|
NM_020944.3(GBA2):c.1905G>A (p.Thr635=)
|
rs369401526
|
0.00001
|
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)
|
rs387907040
|
0.00001
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_024306.5(FA2H):c.782A>G (p.His261Arg)
|
rs761645282
|
0.00001
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
NM_030954.4(RNF170):c.396+3A>G
|
rs1159600703
|
0.00001
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
|
rs766889023
|
0.00001
|
NM_001012301.4(ARSI):c.1007G>A (p.Arg336Gln)
|
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001128126.3(AP4S1):c.306+4182dup
|
rs766477779
|
|
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)
|
rs797045050
|
|
NM_001244008.2(KIF1A):c.865-24CT[2]
|
rs140674901
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)
|
rs746890435
|
|
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)
|
rs879255397
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001278116.2(L1CAM):c.108C>T (p.Val36=)
|
|
|
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
|
|
|
NM_001278116.2(L1CAM):c.1267+1G>A
|
rs1557092247
|
|
NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)
|
|
|
NM_001278116.2(L1CAM):c.1305G>A (p.Thr435=)
|
|
|
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)
|
|
|
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
|
|
|
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)
|
rs201131192
|
|
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
|
|
|
NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)
|
|
|
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
NM_001278116.2(L1CAM):c.2431+5G>A
|
rs1557090943
|
|
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
|
|
|
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
|
|
|
NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
|
|
|
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=)
|
rs139393266
|
|
NM_001278116.2(L1CAM):c.3323-24dup
|
rs782818719
|
|
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
|
|
|
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
|
|
|
NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)
|
|
|
NM_001278116.2(L1CAM):c.400+5G>A
|
rs1569544908
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
|
|
|
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg)
|
rs1064793162
|
|
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
|
rs121918262
|
|
NM_001478.5(B4GALNT1):c.139del (p.Arg47fs)
|
rs1555186937
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)
|
rs863224878
|
|
NM_004187.5(KDM5C):c.1243-2A>G
|
rs1569274606
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
|
rs370032584
|
|
NM_004187.5(KDM5C):c.2496G>T (p.Leu832=)
|
rs139444870
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp)
|
rs782388435
|
|
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
|
|
|
NM_004187.5(KDM5C):c.4338C>T (p.His1446=)
|
rs797044695
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter)
|
rs752598529
|
|
NM_004722.4(AP4M1):c.544-8_544-3del
|
rs1064794383
|
|
NM_004722.4(AP4M1):c.694dup (p.Glu232fs)
|
rs1584514057
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)
|
rs2129629942
|
|
NM_004820.5(CYP7B1):c.123-19dup
|
rs8192895
|
|
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)
|
rs769676029
|
|
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)
|
rs776075679
|
|
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)
|
rs891749853
|
|
NM_004820.5(CYP7B1):c.260-15dup
|
rs8192896
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
NM_004820.5(CYP7B1):c.730A>T (p.Lys244Ter)
|
|
|
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=)
|
rs754533279
|
|
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)
|
rs886063073
|
|
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=)
|
rs1045912447
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp)
|
rs1055742325
|
|
NM_004984.4(KIF5A):c.1717-6C>T
|
rs61935711
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
|
|
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)
|
rs1555178616
|
|
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
|
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
NM_004984.4(KIF5A):c.397-16_397-14del
|
rs375316447
|
|
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)
|
rs748551786
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro)
|
rs1594915468
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln)
|
rs2140163000
|
|
NM_005619.5(RTN2):c.1135G>A (p.Val379Met)
|
|
|
NM_005619.5(RTN2):c.1381-12del
|
rs537146226
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[4]
|
rs760787234
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
NM_006517.5(SLC16A2):c.129C>G (p.Pro43=)
|
|
|
NM_006517.5(SLC16A2):c.576-1G>A
|
rs886042238
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del)
|
rs753170095
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
|
NM_007175.8(ERLIN2):c.299-4_299-3del
|
rs778852699
|
|
NM_007175.8(ERLIN2):c.740-5C>G
|
rs191003311
|
|
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu)
|
rs142762839
|
|
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)
|
rs142762839
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
NM_014231.5(VAMP1):c.65del (p.Pro22fs)
|
rs886042861
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
|
|
|
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
|
|
|
NM_014363.6(SACS):c.346-19del
|
rs200011804
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
|
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014363.6(SACS):c.9972A>T (p.Leu3324=)
|
rs772412510
|
|
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs)
|
rs2140250002
|
|
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
|
rs1190463308
|
|
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)
|
rs531152715
|
|
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)
|
rs141880939
|
|
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)
|
rs1057518016
|
|
NM_015346.4(ZFYVE26):c.3017G>A (p.Arg1006Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)
|
rs7156492
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met)
|
rs201034965
|
|
NM_015346.4(ZFYVE26):c.475G>C (p.Asp159His)
|
|
|
NM_015346.4(ZFYVE26):c.5485-1del
|
rs878855013
|
|
NM_015346.4(ZFYVE26):c.5622-10_5622-9del
|
rs768978705
|
|
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter)
|
rs2140192948
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
|
|
|
NM_015346.4(ZFYVE26):c.7371+6C>G
|
rs894907950
|
|
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr)
|
rs565574386
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
|
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)
|
rs1057518032
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)
|
rs368625962
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs)
|
rs759033144
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr)
|
|
|
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr)
|
rs761095930
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
Single allele
|
|
|