Have questions? Visit https://www.reddit.com/r/SNPedia

rs9309413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) lowest sphingomyelin values
(C;G) intermediate sphingomyelin values
(G;G) highest sphingomyelin values
ReferenceGRCh38 38.1/141
Chromosome2
Position68343640
is asnp
is mentioned by
dbSNPrs9309413
ebirs9309413
HLIrs9309413
Exacrs9309413
Varsomers9309413
Maprs9309413
PheGenIrs9309413
hapmaprs9309413
1000 genomesrs9309413
hgdprs9309413
ensemblrs9309413
gopubmedrs9309413
geneviewrs9309413
scholarrs9309413
googlers9309413
pharmgkbrs9309413
gwascentralrs9309413
openSNPrs9309413
23andMers9309413
23andMe allrs9309413
SNP Nexus

SNPshotrs9309413
SNPdbers9309413
MSV3drs9309413
GWAS Ctlgrs9309413
GMAF0.3664
Max Magnitude
? (C;C) (C;G) (G;G) 28
rs9309413 is a SNP located near the PLEK gene. A study of metabolite concentrations in the blood of 284 adult males from Southern Germany determined that several SNPs were associated either directly with a metabolite range or with a ratio of metabolites. The rarer rs9309413(G) allele was associated with increased sphingomyelin (SM) values. 10.1371/journal.pgen.1000282
Rs9309413 320x298.jpg
GWAS snp
PMID [PMID 19043545OA-icon.png]
Trait Serum metabolites
Title Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
Risk Allele
P-val 2E-9
Odds Ratio NR NR



GET Evidence
rs9309413
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.460938
summary