rs3749117

This is a variant in the PLA2R1 gene that changes a methionine to an valine.

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GWAS Catalog Trait Associations (2)

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

secretory phospholipase A2 receptor measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.62
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.900
p —
N 3,301
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

Atypical hemolytic-uremic syndrome

View on ClinVar →

About PLA2R1

This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

View all PLA2R1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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