Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1195505218
SLC25A22
0.925 0.040 11 792142 missense variant C/T snv 4.1E-06 4
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs121917984
SCN1A-AS1 ; SCN1A
0.790 0.080 2 166052869 missense variant G/A;C snv 8
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins 3
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs1560162116
ALG3
0.882 0.080 3 184242930 missense variant T/C snv 5
rs1560164682
ALG3
0.882 0.080 3 184245709 splice region variant T/C snv 5