rs4488133
This variant is located in the PYROXD2 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
X-12092 measurement
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.28
p —
N 7,500
Large GWAS
European
X-12112 measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 1.41
p —
N 4,883
Large GWAS
European
urinary metabolite measurement
Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)
Allele T
OR 1.46
p 1.0e-234
N 1,221
Large GWAS
X-12093 measurement
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.10
p 1.0e-48
N 2,854
Large GWAS
European
About PYROXD2
Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]
View all PYROXD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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