rs121908037, LDLR

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.882 0.080 19 11129654 missense variant G/A snv 0.700 1.000 1 1995 1995
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.080 19 11129654 missense variant G/A snv 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.882 0.080 19 11129654 missense variant G/A snv 0.010 1.000 1 1995 1995