Gene: LDLR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. 26343872

2015
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. 23669246

2013
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia. 23155708

2012
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Update of the Portuguese Familial Hypercholesterolaemia Study. 20828696

2010
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025

2009
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 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: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes. 19013141

2009
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. 15359125

2004
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR The UMD-LDLR database: additions to the software and 490 new entries to the database. 12124988

2002
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. 11031227

2000
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548

1995
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada. 1493640

1992
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK. 1884514

1991
dbSNP: rs28942084
rs28942084
LDLR
T 0.780 CausalMutation CLINVAR 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: rs28942084
rs28942084
LDLR
T 0.780 GeneticVariation CLINVAR 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: rs28942084
rs28942084
LDLR
A 0.780 GeneticVariation CLINVAR

dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
A 0.760 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013