Rs505151

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Orientationplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs505151(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position55063514
GenePCSK9
is asnp
is mentioned by
dbSNPrs505151
PheGenIrs505151
nextbiors505151
hapmaprs505151
1000 genomesrs505151
hgdprs505151
ensemblrs505151
gopubmedrs505151
geneviewrs505151
scholarrs505151
googlers505151
pharmgkbrs505151
gwascentralrs505151
openSNPrs505151
23andMers505151
23andMe allrs505151
SNP Nexus

SNPshotrs505151
SNPdbers505151
MSV3drs505151
GMAF0.09826
Max Magnitude0
? (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 16875509OA-icon.png]

[PMID 18300938OA-icon.png] rs505151 rs562556 show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.

Neighborrs28362286
Distance28


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)
Alt rs505151(A;A)
Reference rs505151(G;G)
Significance Non-pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000001.11:g.55063514G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030349.1,



[PMID 20031607OA-icon.png] Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

[PMID 21232153OA-icon.png] The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

[PMID 21741043OA-icon.png] 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.



[PMID 23355348] Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.