rs76863441

This is a variant in the PLA2G7 gene that changes a valine to an phenylalanine.

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GWAS Catalog Trait Associations (2)

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

lipoprotein-associated phospholipase A(2) measurement

Yeo A et al. “Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.” Plos One 12(7):e0182115 (2017)
Allele A
OR 72.79
p 1.0e-178
N 22,156
Meta-analysisLarge GWAS
multi-ancestry
Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)
Allele A
OR 0.49
p 9.0e-38
N 10,210
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★☆☆☆
4 submitters4 publications

PLA2G7-related disorder; Platelet-activating factor acetylhydrolase deficiency (PAFAD)

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About PLA2G7

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

View all PLA2G7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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