rs10065172

This is a synonymous variant in the IRGM gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★☆☆☆
3 submitters6 publications

Inflammatory bowel disease 19 (IBD19); not specified

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Research that mentions this SNP (1)

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Contribution of higher risk genes and European admixture to Crohnʼs disease in African Americans
AssociationN=708Ming-Hsi Wang et al.(2012)· Inflammatory Bowel Diseases

Study of 354 African American Crohn's disease cases and 354 controls examined the contribution of European admixture and major established CD risk genes. Mean European ancestry was similar between cases (20.9%) and controls (20.4%, p=0.58). Significant associations were found with NOD2 carrier status (OR 3.28, p=0.007), ATG16L1 Thr300Ala (p=0.003), IBD5 locus genes SLC22A4 L503F (p=0.05) and SLC22A5 g-207c (p=0.03), and IL23R rs2201841 (p=0.03), but not IRGM variants.

Traits studied:Crohn's 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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