rs730882085, LDLR

N. diseases: 3
Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 GeneticVariation CLINVAR Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia. 28964736 2018
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 GeneticVariation CLINVAR Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. 24014831 2013
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 GeneticVariation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525 2010