rs5764972

This is a intron variant variant in the PRR5 gene.

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GWAS Catalog Trait Associations (1)

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

drug use measurement, gut microbiome measurement

Stickley SA et al. “Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy.” The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele T
OR 1.16
p 5.0e-10
N 693
Small GWAS
multi-ancestry

About PRR5

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

View all PRR5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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