rs470558

This is a synonymous variant in the MMP1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

interstitial collagenase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.11

p 5.0e-21

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Molecular and Genetic Evidence for Abnormalities in the Nodes of Ranvier in Schizophrenia

FunctionalN=56Roussos P. et al.(2012)· Archives of General Psychiatry

This gene expression study found that 13 schizophrenia-related biomarkers (CTGF, CXCR4, IL1B, IL10RA, MIF, MMP2, NPY1R, NRG1, NTRK2, SERPINA3, TIMP1, TIMP2, TNF) showed significantly altered expression in extraocular muscles from strabismus patients compared to normal controls. Notable fold-changes included TIMP1 (7.43-fold up, p=0.000459), CTGF (6.39-fold up, p=0.009380), and TIMP2 (5.81-fold up, p=0.002852), suggesting that ocular misalignment may alter brain-relevant gene expression patterns linked to schizophrenia risk.

Traits studied:EsotropiaExotropiaSchizophreniaStrabismus

PubMed DOI Metascience Observatory

About MMP1

This gene encodes a member of the peptidase M10 family 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]