rs7979305

This variant is located in the PYROXD1 gene.

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GWAS Catalog Trait Associations (1)

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

pulse pressure measurement, depressive symptom measurement

Lee S et al. “Large-scale blood pressure GWAS accounting for gene-depression interactions in 564,680 individuals from diverse populations.” Hgg Advances 7(2):100566 (2026)
Allele C
OR 8.63
p 3.0e-8
N 29,626
Large GWAS
African American or Afro-Caribbean, African unspecified

About PYROXD1

This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]

View all PYROXD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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