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 		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
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 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973 1993
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland. 22160468 2012
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662 1992
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 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
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 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. 22509010 2012
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548 1995
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. 17347910 2007
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 21600525 2011
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677 1998
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. 17142622 2006
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 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 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748 1992
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. 7550239 1995
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 2726768 1989
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 11462246 2001
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289 2014
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 		0.810 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921 2013
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum. 24636176 2014