Rs505151

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs505151
PheGenI	rs505151
nextbio	rs505151
hapmap	rs505151
1000 genomes	rs505151
hgdp	rs505151
ensembl	rs505151
gopubmed	rs505151
geneview	rs505151
scholar	rs505151
google	rs505151
pharmgkb	rs505151
gwascentral	rs505151
openSNP	rs505151
23andMe	rs505151
23andMe all	rs505151
SNP Nexus
SNPshot	rs505151
SNPdbe	rs505151
MSV3d	rs505151

Gene

PCSK9

Chromosome

1

Orientation

plus

GMAF

0.098

Position

55529187

Reference

GRCh37 37.1/131

Max Magnitude

0

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(G;G)	0	common in clinvar

Make rs505151(A;G)

?	(A;A) (A;G) (G;G)	28

rs505151 is a SNP, also known as E670G or 23968A>G, in the proprotein convertase subtilisin/kexin type 9 PCSK9 gene. rs505151(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.

Neighbor	rs28362286
Distance	28

Venter snp
Source	plos
Gene	PCSK9
allele	A
frequency	0.958
sift	TOLERATED
HuRef	1103675097464
Disease Association	Defects in PCSK9 are the cause of familial hypercholesterolemia 3 (FH3) (MIM:603776). FH3 inheritance is autosomal dominant.

ClinVar
Risk	rs505151(A;A)
Normal	rs505151(G;G)
Significance	2
Disease	Familial Hypercholesterolemia
ClinVar	info
Gene	PCSK9
CLNDBN	Familial Hypercholesterolemia
Reversed	0
CLNHGVS	NC_000001.10:g.55529187G>A
CLNSRC	Correlagen

[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.

GET Evidence
PCSK9-G670E
aa_change	Gly670Glu
aa_change_short	G670E
impact	benign
qualified_impact	Low clinical importance, Uncertain benign
overall_frequency	0.888269
summary	This variant is likely benign.