Disease: Familial hypercholesterolemia - heterozygous
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799883
FABP2
0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs750594245
LPL
0.925 0.080 8 19948248 missense variant A/G snv 8.0E-06 2