Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
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
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs587782991
PURA
0.882 0.080 5 140114991 inframe deletion TCT/- delins 6
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs587782999
PURA
0.882 0.080 5 140114446 missense variant G/A;C snv 6
rs587783000
PURA
0.925 0.080 5 140114444 inframe deletion TCG/- del 5
rs587783001
PURA
0.882 0.080 5 140114777 missense variant G/C snv 6
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24