Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Molecular-genetic aspects of familial hypercholesterolemia. 26238499

2015

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. 25463123

2014

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. 21865347

2011

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. 21925044

2011

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. 20663204

2010

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. 20506408

2010

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Evaluation of high-resolution melting analysis for screening the LDL receptor gene. 19118540

2009

dbSNP: rs137929307
rs137929307
0.710 GeneticVariation BEFREE LDLR gene resequencing showed that proband I.G., with the clinical diagnosis of homozygous FH, was homozygous for a mutation in exon 12 (c.1775 G>A, G571E) known to be pathogenic, and heterozygous for a mutation in intron 14 (c.2140 +5G>A). 19467224

2009

dbSNP: rs137929307
rs137929307
A 0.710 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
A 0.710 CausalMutation CLINVAR Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. 19026292

2008

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening. 17196209

2008

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population. 18206115

2008

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. 17335829

2007

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. 17539906

2007

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia. 15864114

2005

dbSNP: rs137929307
rs137929307
A 0.710 GeneticVariation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004

dbSNP: rs137929307
rs137929307
A 0.710 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004