Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement. 26020417

2016
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735

2015
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149

2015
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 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: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793

2012
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. 21925044

2011
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. 21865347

2011
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. 18263977

2008
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. 11754108

2002
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece. 11317361

2001
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205

1998
dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992