rs2376549

This is a intron variant variant in the DEFB121 gene.

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GWAS Catalog Trait Associations (1)

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

gastric carcinoma

Tanikawa C et al. “Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21.” Cancer Science 109(12):4015-4024 (2018)

Allele C

OR 1.11

p 8.0e-10

N 33,349

Large GWAS

East Asian

About DEFB121

This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

View all DEFB121 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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