rs192314256

This is a protein-altering variant in the PHLDA3 gene.

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GWAS Catalog Trait Associations (1)

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

Keloid

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)

Allele C

OR 9.56

p 3.0e-20

N 212,453

Large GWAS

East Asian

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 1.83

p 9.0e-19

N 660,638

Large GWAS

multi-ancestry

About PHLDA3

Enables phosphatidylinositol phosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all PHLDA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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