Gene: LDLR ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803

1999
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. 10090484

1999
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677

1998
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118

1998
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431

1997
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997
dbSNP: rs121908025
rs121908025
LDLR
0.860 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: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548

1995
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. 7635482

1995
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973

1993
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662

1992
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748

1992
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200

1991
dbSNP: rs121908025
rs121908025
LDLR
0.860 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: rs121908025
rs121908025
LDLR
G 0.860 GeneticVariation CLINVAR

dbSNP: rs121908025
rs121908025
LDLR
G 0.860 CausalMutation CLINVAR

dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT Recommendations for the management of patients with familial hypercholesterolemia. 25404096

2015
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum. 24636176

2014
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289

2014
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 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: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921

2013
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
0.840 GeneticVariation UNIPROT Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. 22509010

2012