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rs4947534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4947534(C;C)
Make rs4947534(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position56011401
GenePSPH
is asnp
is mentioned by
dbSNPrs4947534
dbSNP (classic)rs4947534
ClinGenrs4947534
ebirs4947534
HLIrs4947534
Exacrs4947534
Gnomadrs4947534
Varsomers4947534
LitVarrs4947534
Maprs4947534
PheGenIrs4947534
Biobankrs4947534
1000 genomesrs4947534
hgdprs4947534
ensemblrs4947534
geneviewrs4947534
scholarrs4947534
googlers4947534
pharmgkbrs4947534
gwascentralrs4947534
openSNPrs4947534
23andMers4947534
SNPshotrs4947534
SNPdbers4947534
MSV3drs4947534
GWAS Ctlgrs4947534
Max Magnitude0
? (C;C) (C;T) (T;T) 28


GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele T
P-val 2E-14
Odds Ratio .02 [0.014-0.022] unit decrease
ClinVar
Risk rs4947534(C;C)
Alt rs4947534(C;C)
Reference Rs4947534(T;T)
Significance Non-pathogenic
Disease Deficiency of phosphoserine phosphatase
Variation info
Gene PSPH
CLNDBN Deficiency of phosphoserine phosphatase
Reversed 0
HGVS NC_000007.13:g.56079094T>C
CLNSRC
CLNACC RCV000306293.1,