Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149

2015
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs139043155
rs139043155
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: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. 20663204

2010
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394

2006
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. 10657581

2000
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104

2000
dbSNP: rs139043155
rs139043155
LDLR
A 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992