rs138832612

This is a regulatory region variant variant in the PRRX2 gene.

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GWAS Catalog Trait Associations (1)

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

cervix erosion

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)

Allele C

OR 0.13

p 3.0e-8

N 221,885

Large GWAS

European

About PRRX2

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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