rs36001488

This variant is located in the ATG16L1 gene.

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GWAS Catalog Trait Associations (1)

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

autoimmune thyroid disease, systemic lupus erythematosus, type 1 diabetes mellitus, ankylosing spondylitis, psoriasis, common variable immunodeficiency, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, juvenile idiopathic arthritis

Li YR et al. “Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.” Nature Medicine 21(9):1018-27 (2015)

Allele C

OR —

p 8.0e-11

N 16,754

Meta-analysisLarge GWAS

European

About ATG16L1

The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

View all ATG16L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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