rs12654043

This variant is located in the IRGM gene.

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GWAS Catalog Trait Associations (1)

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

Crohn's disease

Kim K et al. “Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2.” Journal of Crohn's & Colitis 18(1):47-53 (2024)

Allele G

OR 1.23

p 1.0e-8

N 79,121

Large GWAS

East Asian

About IRGM

This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]

View all IRGM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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