Disease: Hypercholesterolemia, Familial
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10455872
LPA
0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 33
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 28
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 24
rs5742904
APOB
0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 22
rs2303790
CETP
0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 19
rs505151
PCSK9
0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 18
rs17321515 0.776 0.200 8 125474167 intron variant A/G snv 0.49 16
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 14
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 12
rs515135 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 9
rs562556
PCSK9
0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 8
rs28362261
PCSK9
0.851 0.160 1 55058129 missense variant A/G snv 1.2E-03 4.8E-03 6
rs1529711
CARM1
1.000 0.080 19 10912758 intron variant C/T snv 0.13 4
rs72658860
LDLR
1.000 0.080 19 11110681 missense variant G/A snv 8.8E-04 3.9E-03 4
rs28362263
PCSK9
1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 3