rs879254448, LDLR

N. diseases: 4
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 0.925 0.080 19 11102718 missense variant G/A;C;T snv 0.700 1.000 6 1994 2008
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.925 0.080 19 11102718 missense variant G/A;C;T snv 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.925 0.080 19 11102718 missense variant G/A;C;T snv 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.925 0.080 19 11102718 missense variant G/A;C;T snv 0.010 1.000 1 2004 2004