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
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
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
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del 7
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
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del 5
rs587776508
C12orf65 ; CDK2AP1
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 4
rs886039903
FGF12
0.807 0.200 3 192335434 missense variant C/T snv 4
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 4
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 4
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv 4
rs1555703272
SLC25A10
0.925 0.080 17 81715568 stop gained A/T snv 4
rs747824231
VARS1
0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06 4
rs763777257
VARS1
0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 4
rs1064794262
CACNA1A
0.925 0.040 19 13303831 frameshift variant CT/- del 3
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv 3
rs397514737
GABRG2
0.882 0.080 5 162149153 missense variant G/A snv 3