Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752596535
rs752596535
LDLR
A 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016
dbSNP: rs752596535
rs752596535
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: rs752596535
rs752596535
LDLR
A 0.700 CausalMutation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs752596535
rs752596535
LDLR
A 0.700 CausalMutation CLINVAR Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. 12406975

2002
dbSNP: rs752596535
rs752596535
LDLR
A 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs752596535
rs752596535
LDLR
A 0.700 CausalMutation 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: rs752596535
rs752596535
LDLR
A 0.700 CausalMutation CLINVAR Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. 7616128

1995