rs12447804

This is a intron variant variant in the MMP15 gene.

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GWAS Catalog Trait Associations (1)

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

FEV/FVC ratio, pulmonary function measurement

Soler Artigas M et al. “Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.” Nature Genetics 43(11):1082-90 (2011)
Allele T
OR 0.04
p 4.0e-8
N 48,201
Large GWAS
European

About MMP15

This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [provided by RefSeq, Jan 2016]

View all MMP15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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