rs78010183

This is a protein-altering variant in the MUC17 gene.

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GWAS Catalog Trait Associations (1)

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

chronic kidney disease

Yamada Y et al. “Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.” International Journal of Molecular Medicine 42(5):2415-2436 (2018)

Allele A

OR 3.45

p 2.0e-8

N 2,556

Large GWAS

East Asian

About MUC17

The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]

View all MUC17 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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