LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. 25053660 2014
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803 1999
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 15177124 2004
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Recommendations for the management of patients with familial hypercholesterolemia. 25404096 2015
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia. 22364837 2012
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		A 0.810 CausalMutation CLINVAR
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		A 0.810 GeneticVariation CLINVAR