rs3918253

This variant is located in the MMP9 gene.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)

Allele C

OR 0.00

p 1.0e-26

N 437,438

Large GWAS

European

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 0.02

p 2.0e-23

N 394,642

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts

AssociationN=2,288Ariadne Letra et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology

Association study of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts in Brazilian case-control (494 cases, 413 controls) and US family-based (881 families) cohorts. MMP3 rs522616 showed strong association with all clefts (P=0.00002), cleft lip/palate (P=0.0009), and cleft palate (P=0.006). TIMP2 rs8179096 associated with all clefts (P=0.004), cleft lip/palate (P=0.01), and cleft palate (P=0.02). Significant gene-gene interaction between MMP3-TIMP2 detected (P=0.000001).

Traits studied:Cleft lipCleft lip and palateCleft palateNonsyndromic oral clefts

PubMed DOI Metascience Observatory

About MMP9

Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]