|| common in complete genomics
|| common in clinvar
|?|| (A;A) (A;G) (G;G) ||28|
is a SNP, also known as E670G or 23968A>G, in the proprotein convertase subtilisin/kexin type 9 PCSK9
(G) encodes the Gly (G), and rs505151
(A) encodes the Glutamic acid (E).
In a study of 506 European polygenic hypercholesterolemia patients, the rs505151(G) allele was found with increased frequency in men but not in women.[PMID 16875509]
[PMID 18300938] rs505151 rs562556 show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.
| Disease Association
|| Defects in PCSK9 are the cause of familial hypercholesterolemia 3 (FH3) (MIM:603776). FH3 inheritance is autosomal dominant.
[PMID 20031607] Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.
[PMID 21232153] The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.
[PMID 21741043] Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.
[PMID 19191301] Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
|| Low clinical importance, Uncertain benign
|| This variant is likely benign.
[PMID 23355348] Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.