rs4539242

This is a regulatory region variant variant in the PYROXD2 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

N6-Acetyl-L-lysine measurement

Moore A et al. “Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.” The Journal of Biological Chemistry 298(12):102706 (2022)

Allele T

OR 1.04

p 4.0e-63

N 243

Small GWAS

urinary metabolite measurement

Rueedi R et al. “Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.” Plos Genetics 10(2):e1004132 (2014)

Allele T

OR 0.35

p 2.0e-20

N 835

Small GWAS

multi-ancestry

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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