Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989911
rs875989911
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: rs875989911
rs875989911
LDLR
A 0.700 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations. 27680772

2016
dbSNP: rs875989911
rs875989911
LDLR
A 0.700 GeneticVariation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs875989911
rs875989911
LDLR
A 0.700 GeneticVariation CLINVAR Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. 11857755

2002
dbSNP: rs875989911
rs875989911
LDLR
A 0.700 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs875989911
rs875989911
LDLR
A 0.700 GeneticVariation CLINVAR Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. 11040093

2000
dbSNP: rs875989911
rs875989911
LDLR
A 0.700 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997