rs1042704

This is a variant in the MMP14 gene that changes a aspartate to an asparagine.

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GWAS Catalog Trait Associations (9)

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

angiopoietin-1 receptor measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.08
p 4.0e-48
N 47,745
Large GWAS
European

level of membrane primary amine oxidase in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 3.0e-45
N 47,745
Large GWAS
European

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele G
OR 0.03
p 1.0e-34
N 426,824
Large GWAS
European
Kemp JP et al. “Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.” Nature Genetics 49(10):1468-1475 (2017)
Allele G
OR 0.03
p 9.0e-14
N 142,487
Large GWAS
European

Dupuytren Contracture

Riesmeijer SA et al. “A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease.” Nature Communications 15(1):199 (2024)
Allele A
OR 0.20
p 3.0e-26
N 58,343
Meta-analysisLarge GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.15
p 1.0e-13
N 447,363
Major Consortium StudyLarge GWAS
European
Ng M et al. “A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.” American Journal of Human Genetics 101(3):417-427 (2017)
Allele A
OR 1.26
p 2.0e-19
N 8,557
Large GWAS
multi-ancestry

amount of CD276 antigen (human) in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 5.0e-19
N 47,745
Large GWAS
European

plexin-A1 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 0.13
p 9.0e-16
N 10,708
Large GWAS
European

Abnormality of the skeletal system

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 7.0e-13
N 394,642
Large GWAS
European

frozen shoulder

Green HD et al. “A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor.” Plos Genetics 17(6):e1009577 (2021)
Allele A
OR 1.12
p 1.0e-12
N 627,998
Large GWAS
European

BMI-adjusted waist-hip ratio

Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)
Allele A
OR 0.02
p 3.0e-8
N 295,214
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters2 publications
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
PubMedDOIMetascience Observatory

About MMP14

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. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]

View all MMP14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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