Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA. 27998977

2017
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. 26374825

2015
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol. 24115837

2013
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia. 22683120

2012
dbSNP: rs1057519691
rs1057519691
PCSK9
C 0.700 CausalMutation CLINVAR