rs7934606

This variant is located in the MUC2 gene.

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GWAS Catalog Trait Associations (1)

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

interstitial lung disease

Fingerlin TE et al. “Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.” Nature Genetics 45(6):613-20 (2013)
Allele T
OR 1.52
p 7.0e-34
N 5,844
Large GWAS
European

About MUC2

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]

View all MUC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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