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: rs1057519540
rs1057519540
SCN8A
2 0.925 0.160 12 51768895 missense variant A/G snv 0.700 0
dbSNP: rs1057519542
rs1057519542
CDKL5
1 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0
dbSNP: rs1057519545
rs1057519545
SYNGAP1
1 1.000 0.040 6 33435225 missense variant G/C snv 0.700 0
dbSNP: rs1057519547
rs1057519547
HCN1
2 0.925 0.040 5 45396550 missense variant C/T snv 0.700 0
dbSNP: rs1057519548
rs1057519548
HCN1
2 0.925 0.040 5 45645575 missense variant C/G snv 0.700 0
dbSNP: rs1057519549
rs1057519549
GABRB3
2 0.925 0.040 15 26567655 missense variant G/A snv 0.700 0
dbSNP: rs1057519550
rs1057519550
GABRB3
2 0.925 0.040 15 26621403 missense variant T/G snv 0.700 0
dbSNP: rs1064794262
rs1064794262
CACNA1A
3 0.925 0.040 19 13303831 frameshift variant CT/- del 0.700 0
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 0
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
3 0.882 0.080 20 63413471 missense variant C/A;T snv 0.700 0
dbSNP: rs1485894376
rs1485894376
CACNA2D2
1 1.000 0.040 3 50375876 missense variant C/G;T snv 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1553567473
rs1553567473
SCN2A
2 0.925 0.040 2 165309193 missense variant A/G snv 0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1555850842
rs1555850842
KCNQ2
1 1.000 0.040 20 63407136 frameshift variant -/G delins 0.700 0
dbSNP: rs1555889090
rs1555889090
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374416 missense variant C/G;T snv 0.700 0
dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
2 0.925 0.040 20 49374559 missense variant A/G snv 0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
6 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
3 0.882 0.040 20 49374644 missense variant G/A snv 0.700 0
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
6 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 0
dbSNP: rs1562159088
rs1562159088
WASF1
2 1.000 0.040 6 110100644 stop gained G/A snv 0.700 0
dbSNP: rs1568658507
rs1568658507
KCNB1
1 1.000 0.040 20 49482353 missense variant T/C snv 0.700 0
dbSNP: rs1569017015
rs1569017015
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374312 missense variant G/T snv 0.700 0
dbSNP: rs1569017045
rs1569017045
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374359 missense variant C/T snv 0.700 0