NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
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_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)
|
rs2306986
|
0.08726
|
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_001386140.1(MTTP):c.497A>G (p.Asn166Ser)
|
rs3792683
|
0.08314
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_001386140.1(MTTP):c.39C>G (p.Ser13=)
|
rs7667001
|
0.07507
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_001386140.1(MTTP):c.933C>A (p.Thr311=)
|
rs17029213
|
0.07360
|
NM_001386140.1(MTTP):c.1769+9C>T
|
rs34734558
|
0.07357
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)
|
rs61733139
|
0.04959
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
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_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)
|
rs113557405
|
0.02353
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
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_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
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_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)
|
rs145444300
|
0.00389
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000370.3(TTPA):c.664-4T>G
|
rs2045224
|
0.00304
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)
|
rs112506924
|
0.00290
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_001386140.1(MTTP):c.-6G>A
|
rs41275707
|
0.00276
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)
|
rs115222767
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
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_000370.3(TTPA):c.24C>G (p.Pro8=)
|
rs140010311
|
0.00172
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
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_000370.3(TTPA):c.147C>T (p.Asp49=)
|
rs199805621
|
0.00160
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr)
|
rs10011440
|
0.00073
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)
|
rs199636231
|
0.00046
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)
|
rs568253718
|
0.00036
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)
|
rs145545828
|
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_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=)
|
rs151204426
|
0.00026
|
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
|
rs140028127
|
0.00026
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
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_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
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_000370.3(TTPA):c.204+6C>T
|
rs574780098
|
0.00018
|
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr)
|
rs374606907
|
0.00018
|
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_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His)
|
rs370868184
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.13272C>T (p.Ala4424=)
|
rs567495567
|
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_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)
|
rs150615169
|
0.00014
|
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln)
|
rs141163645
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_014363.6(SACS):c.4998A>G (p.Thr1666=)
|
rs184994682
|
0.00012
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)
|
rs369294392
|
0.00011
|
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met)
|
rs754693915
|
0.00011
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
NM_014363.6(SACS):c.12451C>T (p.Leu4151=)
|
rs780701057
|
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.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=)
|
rs374820674
|
0.00010
|
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln)
|
rs199537553
|
0.00010
|
NM_014363.6(SACS):c.1464G>A (p.Pro488=)
|
rs375352514
|
0.00010
|
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro)
|
rs549957998
|
0.00010
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)
|
rs756998920
|
0.00009
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
NM_014363.6(SACS):c.10221A>G (p.Leu3407=)
|
rs143243372
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr)
|
rs146513720
|
0.00008
|
NM_014363.6(SACS):c.10482A>G (p.Leu3494=)
|
rs149643158
|
0.00008
|
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
|
rs142926244
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser)
|
rs200114105
|
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.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly)
|
rs9552930
|
0.00007
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00006
|
NM_000370.3(TTPA):c.75G>C (p.Gln25His)
|
rs751638180
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00006
|
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met)
|
rs375982037
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)
|
rs138909482
|
0.00006
|
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
|
rs1299454627
|
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.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)
|
rs886050088
|
0.00006
|
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=)
|
rs200350631
|
0.00006
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_014363.6(SACS):c.4743C>T (p.Phe1581=)
|
rs143310473
|
0.00006
|
NM_014363.6(SACS):c.5529G>C (p.Leu1843=)
|
rs148091738
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
|
rs373428306
|
0.00005
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
NM_001386140.1(MTTP):c.173G>A (p.Arg58His)
|
rs201464944
|
0.00005
|
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)
|
rs148696330
|
0.00005
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
NM_014363.6(SACS):c.1152T>G (p.Thr384=)
|
rs185643322
|
0.00005
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014363.6(SACS):c.3729A>G (p.Glu1243=)
|
rs756663705
|
0.00005
|
NM_014363.6(SACS):c.396A>G (p.Leu132=)
|
rs1256540997
|
0.00005
|
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)
|
rs199998045
|
0.00005
|
NM_014363.6(SACS):c.51C>T (p.Cys17=)
|
rs763979020
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)
|
rs577558935
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val)
|
rs147321244
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
|
rs368617773
|
0.00004
|
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)
|
rs541257103
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_001386140.1(MTTP):c.163G>A (p.Val55Met)
|
rs369453726
|
0.00004
|
NM_001386140.1(MTTP):c.1867+1G>A
|
rs764189338
|
0.00004
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=)
|
rs761984561
|
0.00004
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)
|
rs764357849
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
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.10438C>T (p.His3480Tyr)
|
rs761189797
|
0.00004
|
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile)
|
rs199970621
|
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.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
|
rs770677319
|
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.346-3T>A
|
rs186506382
|
0.00004
|
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
|
rs374961109
|
0.00004
|
NM_014363.6(SACS):c.5274C>T (p.Cys1758=)
|
rs201982449
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
|
rs201690040
|
0.00004
|
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
|
rs764516788
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr)
|
rs202144442
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)
|
rs369713918
|
0.00004
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys)
|
rs368131865
|
0.00003
|
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu)
|
rs780927834
|
0.00003
|
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)
|
rs539356203
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=)
|
rs751421159
|
0.00003
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu)
|
rs765341695
|
0.00003
|
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)
|
rs1249405862
|
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.11886A>G (p.Ile3962Met)
|
rs1252737332
|
0.00003
|
NM_014363.6(SACS):c.159C>G (p.Arg53=)
|
rs968138431
|
0.00003
|
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)
|
rs760505057
|
0.00003
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.4098G>C (p.Leu1366=)
|
rs200381539
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)
|
rs754748296
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)
|
rs201977288
|
0.00003
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
|
rs764764261
|
0.00002
|
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=)
|
rs765555645
|
0.00002
|
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
|
rs1378044084
|
0.00002
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu)
|
rs779794737
|
0.00002
|
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)
|
rs1441727203
|
0.00002
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu)
|
rs751715076
|
0.00002
|
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp)
|
rs1419028802
|
0.00002
|
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe)
|
rs146548751
|
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.11264T>C (p.Ile3755Thr)
|
rs781590547
|
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.11901A>G (p.Gln3967=)
|
rs572068106
|
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.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)
|
rs748972179
|
0.00002
|
NM_014363.6(SACS):c.2403A>G (p.Pro801=)
|
rs758503842
|
0.00002
|
NM_014363.6(SACS):c.2472G>A (p.Ser824=)
|
rs554395185
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.2733C>T (p.Thr911=)
|
rs199702597
|
0.00002
|
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
|
rs200831217
|
0.00002
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
NM_014363.6(SACS):c.4878C>T (p.Gly1626=)
|
rs778664565
|
0.00002
|
NM_014363.6(SACS):c.494C>T (p.Thr165Ile)
|
rs1419027987
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
|
rs763496360
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
|
rs776693219
|
0.00002
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)
|
rs754906806
|
0.00002
|
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)
|
rs760087813
|
0.00002
|
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
|
rs779973547
|
0.00002
|
NM_014363.6(SACS):c.7354T>C (p.Leu2452=)
|
rs761258047
|
0.00002
|
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
|
rs200106708
|
0.00002
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
|
rs761690372
|
0.00002
|
NM_000370.3(TTPA):c.117C>T (p.Gly39=)
|
rs750576019
|
0.00001
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr)
|
rs186021365
|
0.00001
|
NM_000370.3(TTPA):c.381T>C (p.Phe127=)
|
rs768075601
|
0.00001
|
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln)
|
rs748038814
|
0.00001
|
NM_000370.3(TTPA):c.471C>A (p.Ile157=)
|
rs572263038
|
0.00001
|
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)
|
rs756313678
|
0.00001
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
|
rs1453048118
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
|
rs370013480
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=)
|
rs748075933
|
0.00001
|
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
|
rs548299486
|
0.00001
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)
|
rs774225426
|
0.00001
|
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
|
rs367737418
|
0.00001
|
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
|
rs528271337
|
0.00001
|
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr)
|
rs765712127
|
0.00001
|
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)
|
rs368711749
|
0.00001
|
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=)
|
rs749203075
|
0.00001
|
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu)
|
rs780688378
|
0.00001
|
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)
|
rs200992175
|
0.00001
|
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)
|
rs199422219
|
0.00001
|
NM_001386140.1(MTTP):c.1868-2A>G
|
rs760547155
|
0.00001
|
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu)
|
rs1159084242
|
0.00001
|
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg)
|
rs1309109456
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys)
|
rs149228079
|
0.00001
|
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His)
|
rs752590883
|
0.00001
|
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile)
|
rs572336571
|
0.00001
|
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=)
|
rs781654995
|
0.00001
|
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn)
|
rs1459889971
|
0.00001
|
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr)
|
rs1283368181
|
0.00001
|
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val)
|
rs1252692732
|
0.00001
|
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg)
|
rs746001155
|
0.00001
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)
|
rs372494676
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
|
rs748237614
|
0.00001
|
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
|
rs1883567634
|
0.00001
|
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)
|
rs759433888
|
0.00001
|
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)
|
rs750167647
|
0.00001
|
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
|
rs766487632
|
0.00001
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
|
rs1236705431
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
|
rs1328721442
|
0.00001
|
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
|
rs778310483
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
|
rs764098635
|
0.00001
|
NM_014363.6(SACS):c.12606A>C (p.Thr4202=)
|
rs780674369
|
0.00001
|
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys)
|
rs1490155590
|
0.00001
|
NM_014363.6(SACS):c.13119C>T (p.Asp4373=)
|
rs368124828
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
NM_014363.6(SACS):c.13506A>G (p.Pro4502=)
|
rs1593119067
|
0.00001
|
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)
|
rs745361567
|
0.00001
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)
|
rs750412600
|
0.00001
|
NM_014363.6(SACS):c.1683G>A (p.Val561=)
|
rs1485932032
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
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.2023A>T (p.Asn675Tyr)
|
rs374667929
|
0.00001
|
NM_014363.6(SACS):c.2278T>C (p.Leu760=)
|
rs770454726
|
0.00001
|
NM_014363.6(SACS):c.2451C>T (p.Leu817=)
|
rs756595744
|
0.00001
|
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
|
rs759265754
|
0.00001
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
NM_014363.6(SACS):c.2830T>C (p.Leu944=)
|
rs1348417682
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3096G>A (p.Glu1032=)
|
rs529746813
|
0.00001
|
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu)
|
rs377493083
|
0.00001
|
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
|
rs771915442
|
0.00001
|
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys)
|
rs756303420
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.4149T>C (p.His1383=)
|
rs749219225
|
0.00001
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
|
rs1305721973
|
0.00001
|
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
|
rs746069731
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4846A>C (p.Asn1616His)
|
rs979327782
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)
|
rs1035497308
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
|
rs776656956
|
0.00001
|
NM_014363.6(SACS):c.5064G>A (p.Gln1688=)
|
rs760628805
|
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.5930A>G (p.Lys1977Arg)
|
rs774492331
|
0.00001
|
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)
|
rs1461096954
|
0.00001
|
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
|
rs758101602
|
0.00001
|
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
|
rs762268076
|
0.00001
|
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly)
|
rs369388933
|
0.00001
|
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu)
|
rs150098233
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
|
rs754381972
|
0.00001
|
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
|
rs759201960
|
0.00001
|
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
|
rs752273313
|
0.00001
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)
|
rs1213144547
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
|
rs1288769278
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
0.00001
|
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val)
|
rs1269342975
|
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.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)
|
rs182864646
|
0.00001
|
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
|
rs745462710
|
0.00001
|
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
|
rs372119773
|
0.00001
|
NM_014363.6(SACS):c.8356G>C (p.Asp2786His)
|
rs753607639
|
0.00001
|
NM_014363.6(SACS):c.83C>T (p.Ser28Phe)
|
rs1365453773
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
|
rs1382975968
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=)
|
rs779302353
|
0.00001
|
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)
|
rs184407783
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
|
rs777753707
|
0.00001
|
NM_014363.6(SACS):c.8922A>G (p.Leu2974=)
|
rs563864403
|
0.00001
|
NM_014363.6(SACS):c.8931A>G (p.Leu2977=)
|
rs376228714
|
0.00001
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
|
rs755698899
|
0.00001
|
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
|
rs1025915131
|
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_000370.3(TTPA):c.123G>A (p.Pro41=)
|
rs1368032681
|
|
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu)
|
rs928983374
|
|
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile)
|
rs2129795826
|
|
NM_000370.3(TTPA):c.166C>T (p.Leu56=)
|
rs1482746572
|
|
NM_000370.3(TTPA):c.177G>C (p.Arg59=)
|
rs1805742361
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=)
|
rs1268917075
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
|
rs911534514
|
|
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
|
rs1943692342
|
|
NM_000784.4(CYP27A1):c.446+1G>T
|
rs587778797
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
|
rs200753815
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=)
|
rs770631614
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
NM_001173990.3(TMEM216):c.137-7T>C
|
rs1554972545
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
NM_001173990.3(TMEM216):c.230-10T>C
|
rs1858829914
|
|
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)
|
rs1238443381
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)
|
rs1554972409
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser)
|
rs772602972
|
|
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr)
|
rs1368249156
|
|
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln)
|
rs746293101
|
|
NM_001386140.1(MTTP):c.1868-6C>T
|
rs772185759
|
|
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=)
|
rs1578257313
|
|
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=)
|
rs1578257346
|
|
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys)
|
rs1726222895
|
|
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=)
|
rs1272679414
|
|
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val)
|
rs1726272076
|
|
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)
|
rs762901763
|
|
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)
|
rs563558722
|
|
NM_001386140.1(MTTP):c.543T>G (p.His181Gln)
|
rs150319930
|
|
NM_001386140.1(MTTP):c.759G>A (p.Lys253=)
|
rs1725509234
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
NM_014363.6(SACS):c.10227A>G (p.Ser3409=)
|
rs1593123878
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
|
rs1883623876
|
|
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.10731A>C (p.Thr3577=)
|
rs759287298
|
|
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)
|
rs1883577094
|
|
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)
|
rs1027336196
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
|
rs1883510768
|
|
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)
|
rs1883504909
|
|
NM_014363.6(SACS):c.12232C>A (p.Arg4078=)
|
rs141315518
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
|
rs781029021
|
|
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
|
rs778808568
|
|
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
|
rs775817492
|
|
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)
|
rs951437363
|
|
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.1332A>G (p.Ala444=)
|
rs1039811925
|
|
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
NM_014363.6(SACS):c.141G>A (p.Ser47=)
|
rs1593160882
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg)
|
rs1348513054
|
|
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
|
rs764516069
|
|
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)
|
rs374680967
|
|
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.2322A>G (p.Pro774=)
|
rs1869225328
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2904C>T (p.Asp968=)
|
rs149585868
|
|
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)
|
rs139993038
|
|
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)
|
rs1869134973
|
|
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser)
|
rs1202128043
|
|
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)
|
rs1869096503
|
|
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
|
rs1869039514
|
|
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)
|
rs550057119
|
|
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
|
rs768209419
|
|
NM_014363.6(SACS):c.4522A>C (p.Asn1508His)
|
rs144653411
|
|
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)
|
rs764832688
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
|
rs1344578174
|
|
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)
|
rs758570844
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)
|
rs1428265468
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)
|
rs1234193312
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser)
|
rs1566066009
|
|
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val)
|
rs1415663565
|
|
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
|
rs1044714793
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
NM_014363.6(SACS):c.6844T>C (p.Leu2282=)
|
rs1868678889
|
|
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)
|
rs1397588851
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7812T>C (p.Ile2604=)
|
rs1593127031
|
|
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.8768T>C (p.Val2923Ala)
|
rs1566062448
|
|
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
|
rs1868452276
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)
|
rs1085307569
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.972C>T (p.Asp324=)
|
rs546652936
|
|