rs77245812

This is a variant in the MATN3 gene that changes a threonine to an methionine.

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GWAS Catalog Trait Associations (1)

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 A
OR 0.46
p 1.0e-17
N 10,708
Large GWAS
European
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ClinVar annotation

Risk Factor★★★☆
8 submitters4 publications

Connective tissue disorder; MATN3-related disorder; Multiple epiphyseal dysplasia type 5 (EDM5); Osteoarthritis susceptibility 2 (OS2); Spondyloepimetaphyseal dysplasia, matrilin-3 type (SEMDBCD); not specified

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About MATN3

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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