rs7714584

This is a downstream gene variant variant 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

Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele G
OR 1.37
p 8.0e-19
N 21,389
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Association between genome-wide association studies reported SNPs and pediatric-onset Crohn’s disease in Canadian children
AssociationN=1,116Devendra K. Amre et al.(2010)· Human Genetics

This case-control study of 563 Canadian children with pediatric-onset Crohn's disease and 553 controls confirmed associations between SNPs at two novel pediatric-specific loci (rs1250550 at 10q22.3, p=0.026; rs8049439 at 16p11.2, p=0.04) and disease susceptibility. Additionally, 6 of 16 previously reported adult CD loci were significantly associated with pediatric CD, demonstrating substantial genetic overlap between disease forms.

Traits studied:Crohn's diseaseInflammatory bowel disease
PubMedDOIMetascience Observatory

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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