Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5