rs4947534
This is a 3 prime utr variant variant in the PSPH gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serine measurement
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 17.31
p 4.0e-67
N 30,955
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele C
OR —
β 0.018
p 2.0e-14
N 7,796
Large GWAS
European
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele C
OR —
β 0.041
p 4.0e-18
N 7,478
Large GWAS
European
glycine measurement
Wittemans LBL et al. “Assessing the causal association of glycine with risk of cardio-metabolic diseases.” Nature Communications 10(1):1060 (2019)
Allele C
OR 0.07
p 7.0e-34
N 80,003
Large GWAS
European
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 12.13
p 7.0e-34
N 80,003
Large GWAS
European
serum alanine aminotransferase amount
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.02
p 5.0e-29
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-13
N 494,681
Large GWAS
multi-ancestry
▶ClinVar annotation
About PSPH
The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
View all PSPH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…