Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs1555703272
SLC25A10
0.925 0.080 17 81715568 stop gained A/T snv 4
rs763777257
VARS1
0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 4
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv 4
rs1135401733
HNRNPU
1.000 0.040 1 244856757 stop gained G/A snv 3
rs74315392
KCNQ2
0.851 0.080 20 63442482 stop gained G/A;C;T snv 3
rs1562159088
WASF1
1.000 0.040 6 110100644 stop gained G/A snv 2
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv 2
rs1057519537
STXBP1
1.000 0.040 9 127682423 stop gained G/A snv 1
rs1057519539
STXBP1
1.000 0.040 9 127678479 stop gained G/A;T snv 1
rs1135401732
HNRNPU
1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 1
rs1179351306
LOC105372649 ; KCNB1
1.000 0.040 20 49374576 stop gained G/A;C snv 8.0E-06 1
rs121909674
GABRG2
0.790 0.080 5 162153132 stop gained C/T snv 1
rs759766243
WWOX
1.000 0.040 16 78109788 stop gained C/A;T snv 4.0E-06; 4.8E-05 1
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 4
rs747824231
VARS1
0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06 4