Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735

2015

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

2013

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

2011

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009

dbSNP: rs373822756
rs373822756
T 0.720 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025

2009

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Vascular calcifications in homozygote familial hypercholesterolemia. 18239150

2008

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Molecular modeling of D151Y and M391T mutations in the LDL receptor. 18929537

2008

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. 18279815

2008

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. 17539906

2007

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. 17094996

2007

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. 16159606

2005

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR LDL-receptor mutations in Europe. 15523646

2004

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004

dbSNP: rs373822756
rs373822756
0.720 GeneticVariation BEFREE The study was performed with 70 carriers of two LDL-receptor mutations common in northern Italy (i.e., the 4 bp insertion in exon 10 known as FH-Savona and the D200G missense mutation in the exon 4, known as FH-Padova 1) and 100 healthy controls. 11700734

2001

dbSNP: rs373822756
rs373822756
0.720 GeneticVariation BEFREE The screening of 420 familial hypercholesterolemia heterozygotes suggests that C127R and D200G account for about 0.7% of mutations causing familial hypercholesterolemia in Croatia. 11506462

2001

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. 10978268

2000

dbSNP: rs373822756
rs373822756
G 0.720 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104

2000

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. 10208479

1999

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR Molecular genetics of familial hypercholesterolaemia in Norway. 9104431

1997

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. 7649546

1995

dbSNP: rs373822756
rs373822756
G 0.720 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992