rs35771982

This is a variant in the PLA2R1 gene that changes a histidine to an aspartate.

GWAS Catalog Trait Associations (1)

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

macrophage mannose receptor 1 level

Allele C
OR 0.11
p 6.0e-99
N 47,745
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter1 publication

Atypical hemolytic-uremic syndrome

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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