rs9430347

This variant is located in the MASP2 gene.

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GWAS Catalog Trait Associations (2)

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

protein 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 0.15
p 2.0e-20
N 10,708
Large GWAS
European

blood protein amount

Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele T
OR 0.34
p 2.0e-14
N 1,257
Large GWAS
multi-ancestry

About MASP2

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

View all MASP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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