Disease: X-linked infantile spasms
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 4
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv 3
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv 2