rs4849169

This is a intron variant variant in the PSD4 gene.

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GWAS Catalog Trait Associations (2)

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 A

OR 0.88

p 2.0e-21

N 221,885

Large GWAS

European

lymphocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR —

p 2.0e-26

N 643,370

Large GWAS

multi-ancestry

About PSD4

Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Located in ruffle membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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