Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv 4
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
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins 6
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
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
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
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
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
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del 4