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: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793 2012
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland. 22859806 2012
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417 2011
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. 20538126 2010
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		T 0.710 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. 19411563 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		T 0.710 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. 19411563 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. 19411563 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population. 18718593 2009
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246 2008
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246 2008
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. 18325082 2008
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 16314194 2006
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 16314194 2006
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. 15701167 2005
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436 2004
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		0.710 GeneticVariation BEFREE Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls. 12406975 2002
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241 2002
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 CausalMutation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241 2002
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		A 0.710 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272 2001