Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882085
rs730882085
LDLR
G 0.700 GeneticVariation CLINVAR Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia. 28964736

2018
dbSNP: rs730882085
rs730882085
LDLR
G 0.700 GeneticVariation CLINVAR Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. 24014831

2013
dbSNP: rs730882085
rs730882085
LDLR
G 0.700 GeneticVariation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525

2010