rs10895322

This is a regulatory region variant variant in the MMP20 gene.

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GWAS Catalog Trait Associations (1)

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

neuroblastoma

Chang X et al. “Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.” Nature Communications 8(1):569 (2017)
Allele G
OR 2.76
p 3.0e-10
N 5,222
Large GWAS
European
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ClinVar annotation

not_provided
1 submitter
View on ClinVar →

About MMP20

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 protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]

View all MMP20 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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