rs3213423

This variant is located in the DHODH gene.

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GWAS Catalog Trait Associations (2)

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

level of ectonucleotide pyrophosphatase/phosphodiesterase family member 2 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.03

p 2.0e-12

N 47,745

Large GWAS

European

triglycerides:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.03

p 7.0e-12

N 136,016

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Consortium analysis of gene and gene–folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

AssociationN=36,045Linda E. Kelemen et al.(2014)· Molecular Nutrition & Food Research

Consortium analysis of 13,410 ovarian cancer cases and 22,635 controls examining 446 genetic variants in folate metabolism and purine/pyrimidine pathways. The strongest associations were DPYD rs11587873 (OR=0.92, p=6×10⁻⁵) and rs828054 (OR=1.06, p=1×10⁻⁴). While 13 pyrimidine metabolism variants showed significant folate intake interactions, they explained only 0.2% of ovarian carcinoma risk, suggesting limited clinical utility for folate-stratified risk modification.

Traits studied:Clear cell ovarian cancerEndometrioid ovarian cancerHigh-grade serous ovarian cancerLow-grade serous ovarian cancerMucinous ovarian cancerOvarian carcinoma

PubMed DOI Metascience Observatory

About DHODH

The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]