Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. 22390909

2012
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104

2000
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay. 9727746

1998
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
C 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992