Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 28379029

2017
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia. 28169869

2017
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735

2016
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. 25545329

2015
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149

2015
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241

2015
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. 19007590

2008
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. 16205024

2005
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. 15556094

2004
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. 9678702

1998
dbSNP: rs200727689
rs200727689
LDLR
A 0.700 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997