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rs505151

From SNPedia

Orientationplus
Stabilizedplus
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
dbSNP (classic)rs505151
ClinGenrs505151
ebirs505151
HLIrs505151
Exacrs505151
Gnomadrs505151
Varsomers505151
LitVarrs505151
Maprs505151
PheGenIrs505151
Biobankrs505151
1000 genomesrs505151
hgdprs505151
ensemblrs505151
geneviewrs505151
scholarrs505151
googlers505151
pharmgkbrs505151
gwascentralrs505151
openSNPrs505151
23andMers505151
23andMe allrs505151
SNPshotrs505151
SNPdbers505151
MSV3drs505151
GWAS Ctlgrs505151
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.


ClinVar
Risk Rs505151(A;A)
Alt Rs505151(A;A)
Reference Rs505151(G;G)
Significance Other
Disease Familial hypercholesterolemia not specified Familial hypobetalipoproteinemia
Variation info
Gene PCSK9
CLNDBN Familial hypercholesterolemia not specified Familial hypobetalipoproteinemia
Reversed 0
HGVS NC_000001.10:g.55529187G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000030349.2, RCV000252382.2, RCV000364880.1,



[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.


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


[PMID 31144980] INSIG2 gene polymorphism is associated with higher blood pressure and triglyceride levels in Brazilian obese subjects.