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: rs112954220
rs112954220
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		G 0.700 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs112954220
rs112954220
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394 2006
dbSNP: rs112954220
rs112954220
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. 15359125 2004
dbSNP: rs112954220
rs112954220
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		G 0.700 GeneticVariation CLINVAR Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations. 11933210 2002