rs62422878

This is a intron variant variant in the ATG5 gene.

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GWAS Catalog Trait Associations (2)

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

rheumatoid arthritis

Ha E et al. “Large-scale meta-analysis across East Asian and European populations updated genetic architecture and variant-driven biology of rheumatoid arthritis, identifying 11 novel susceptibility loci.” Annals of the Rheumatic Diseases 80(5):558-565 (2021)
Allele T
OR 1.11
p 4.0e-9
N 311,292
Meta-analysisLarge GWAS
multi-ancestry
Saevarsdottir S et al. “Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.” Annals of the Rheumatic Diseases 81(8):1085-1095 (2022)
Allele T
OR 1.07
p 3.0e-8
N 1,026,690
Large GWAS
European

About ATG5

The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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