Gene: LDLR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254558
rs879254558
LDLR
C 0.720 CausalMutation CLINVAR Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward. 27578104

2017
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 GeneticVariation CLINVAR Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. 27765764

2016
dbSNP: rs121908031
rs121908031
LDLR
A 0.720 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735

2015
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 CausalMutation CLINVAR Universal Screening for Familial Hypercholesterolemia in Children. 26361156

2015
dbSNP: rs373822756
rs373822756
LDLR
G 0.720 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735

2015
dbSNP: rs373822756
rs373822756
LDLR
G 0.720 CausalMutation CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241

2015
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 CausalMutation CLINVAR Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. 25463123

2014
dbSNP: rs879254558
rs879254558
LDLR
C 0.720 CausalMutation CLINVAR Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. 25463123

2014
dbSNP: rs121908031
rs121908031
LDLR
A 0.720 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 GeneticVariation CLINVAR Mutation detection in Croatian patients with familial hypercholesterolemia. 23130880

2013
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs368657165
rs368657165
LDLR
A 0.720 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs373822756
rs373822756
LDLR
G 0.720 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs121908031
rs121908031
LDLR
0.720 GeneticVariation BEFREE A similar effect was detected in familial hypercholesterolaemia (FH) patients with the p.C681X mutation of LDL-receptor (LDLR). 21920719

2012
dbSNP: rs121908031
rs121908031
LDLR
A 0.720 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793

2012
dbSNP: rs368657165
rs368657165
LDLR
0.720 GeneticVariation BEFREE The analysis of three heterozygous variants with a single point mutation within the low-density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH. 21990180

2012
dbSNP: rs368657165
rs368657165
LDLR
A 0.720 GeneticVariation CLINVAR Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. 21990180

2012
dbSNP: rs879254597
rs879254597
LDLR
A 0.720 CausalMutation CLINVAR Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. 22390909

2012
dbSNP: rs879255000
rs879255000
LDLR
C 0.720 CausalMutation CLINVAR Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R). 22528129

2012
dbSNP: rs121908031
rs121908031
LDLR
A 0.720 CausalMutation CLINVAR Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation. 21145767

2011
dbSNP: rs368657165
rs368657165
LDLR
T 0.720 CausalMutation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs373822756
rs373822756
LDLR
G 0.720 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs879254558
rs879254558
LDLR
C 0.720 CausalMutation CLINVAR Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. 21925044

2011
dbSNP: rs140241383
rs140241383
LDLR
A 0.720 GeneticVariation CLINVAR Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms. 19837725

2010