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

rs1148259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) lowest sphingomyelin ratios
(G;T) intermediate sphingomyelin ratios
(T;T) highest sphingomyelin ratios
ReferenceGRCh38 38.1/142
Chromosome10
Position37219522
GeneANKRD30A
is asnp
is mentioned by
dbSNPrs1148259
ebirs1148259
HLIrs1148259
Exacrs1148259
Varsomers1148259
Maprs1148259
PheGenIrs1148259
hapmaprs1148259
1000 genomesrs1148259
hgdprs1148259
ensemblrs1148259
gopubmedrs1148259
geneviewrs1148259
scholarrs1148259
googlers1148259
pharmgkbrs1148259
gwascentralrs1148259
openSNPrs1148259
23andMers1148259
23andMe allrs1148259
SNP Nexus

SNPshotrs1148259
SNPdbers1148259
MSV3drs1148259
GWAS Ctlgrs1148259
GMAF0.4867
Max Magnitude
? (G;G) (G;T) (T;T) 28
rs1148259 is a SNP located in the ankyrin repeat domain 30A ANKRD30A 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 rs1148259(T) allele was associated with increased sphingomyelin ratios. 10.1371/journal.pgen.1000282
Rs1148259 296x292.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 3E-9
Odds Ratio NR NR



GET Evidence
rs1148259
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.408647
summary