Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909674
rs121909674
GABRG2
8 0.790 0.080 5 162153132 stop gained C/T snv 0.030 1.000 3 2015 2017
dbSNP: rs1135401732
rs1135401732
HNRNPU
1 1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135401733
rs1135401733
HNRNPU
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555703272
rs1555703272
SLC25A10
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs375108991
rs375108991
PIGO
1 1.000 0.040 9 35092599 stop gained G/A;C snv 2.8E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs74315392
rs74315392
KCNQ2
4 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs764159748
rs764159748
PIGO
1 1.000 0.040 9 35092602 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519537
rs1057519537
STXBP1
1 1.000 0.040 9 127682423 stop gained G/A snv 0.700 0
dbSNP: rs1057519539
rs1057519539
STXBP1
1 1.000 0.040 9 127678479 stop gained G/A;T snv 0.700 0
dbSNP: rs1179351306
rs1179351306
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374576 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1562159088
rs1562159088
WASF1
2 1.000 0.040 6 110100644 stop gained G/A snv 0.700 0
dbSNP: rs759766243
rs759766243
WWOX
1 1.000 0.040 16 78109788 stop gained C/A;T snv 4.0E-06; 4.8E-05 0.700 0
dbSNP: rs763777257
rs763777257
VARS1
4 0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs796053366
rs796053366
STXBP1
2 0.925 0.040 9 127673250 stop gained C/T snv 0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs1392120633
rs1392120633
SCN8A
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs796053228
rs796053228
SCN8A
4 0.882 0.160 12 51807100 missense variant C/G;T snv 0.720 1.000 2 2019 2020
dbSNP: rs1043614377
rs1043614377
CNNM2
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs104894629
rs104894629
PNPO
2 0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1060499553
rs1060499553
GABRA1
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121917750
rs121917750
SCN2A
2 0.925 0.080 2 165386881 missense variant C/G snv 0.010 1.000 1 2019 2019