rs4947534
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs4947534(C;C) |
Make rs4947534(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 56011401 |
Gene | PSPH |
is a | snp |
is | mentioned by |
dbSNP | rs4947534 |
dbSNP (classic) | rs4947534 |
ClinGen | rs4947534 |
ebi | rs4947534 |
HLI | rs4947534 |
Exac | rs4947534 |
Gnomad | rs4947534 |
Varsome | rs4947534 |
LitVar | rs4947534 |
Map | rs4947534 |
PheGenI | rs4947534 |
Biobank | rs4947534 |
1000 genomes | rs4947534 |
hgdp | rs4947534 |
ensembl | rs4947534 |
geneview | rs4947534 |
scholar | rs4947534 |
rs4947534 | |
pharmgkb | rs4947534 |
gwascentral | rs4947534 |
openSNP | rs4947534 |
23andMe | rs4947534 |
SNPshot | rs4947534 |
SNPdbe | rs4947534 |
MSV3d | rs4947534 |
GWAS Ctlg | rs4947534 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 24816252] |
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, |