rs879254714, 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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.080 19 11107476 missense variant A/C;G snv 0.700 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.882 0.080 19 11107476 missense variant A/C;G snv 0.700 1.000 4 1996 2005
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.882 0.080 19 11107476 missense variant A/C;G snv 0.010 1.000 1 1999 1999