rs879254960, 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 0.120 19 11116119 missense variant A/G;T snv 0.020 0.500 2 1998 2006
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.882 0.120 19 11116119 missense variant A/G;T snv 0.010 1.000 1 2006 2006
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.120 19 11116119 missense variant A/G;T snv 0.010 1 1998 1998