Disease: Hypercholesterolemia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 29
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 24
rs1801132
ESR1
0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 22
rs3824260
CYP7A1
0.742 0.160 8 58500631 upstream gene variant A/G;T snv 11
rs6720173
ABCG5 ; DYNC2LI1
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 5
rs4148211
ABCG8 ; LOC102725159
0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35 3