Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373822756
rs373822756
LDLR
G 0.700 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
LDLR
G 0.700 CausalMutation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149

2015
dbSNP: rs373822756
rs373822756
LDLR
G 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs373822756
rs373822756
LDLR
G 0.700 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs373822756
rs373822756
LDLR
G 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992