rs3792109
This is a coding sequence variant variant in the ATG16L1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 A
OR 1.34
p 7.0e-41
N 21,389
Meta-analysisLarge GWAS
European
Julià A et al. “A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.” Gut 62(10):1440-5 (2013)
Allele A
OR 1.38
p 5.0e-9
N 2,765
Large 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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