rs2228056

This variant is located in the CPOX gene.

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GWAS Catalog Trait Associations (1)

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

vascular endothelial growth factor receptor 3 level

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele T

OR 0.34

p 4.0e-16

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Hereditary coproporphyria; not provided; not specified

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About CPOX

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

View all CPOX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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