rs72664341

This is a intron variant variant in the PLPP3 gene.

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GWAS Catalog Trait Associations (1)

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

heart failure

Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)
Allele A
OR 9.49
p 2.0e-21
N 762,151
Large GWAS
European
Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)
Allele A
OR 0.04
p 1.0e-10
N 2,358,556
Large GWAS
multi-ancestry

About PLPP3

The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]

View all PLPP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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