LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hypercholesterolemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989887
rs875989887
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia. 21538688 2011
dbSNP: rs875989887
rs875989887
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		G 0.700 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025 2009