Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins 6
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6