rs74317375

This variant is located in the ADA2 gene.

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GWAS Catalog Trait Associations (1)

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

interleukin-17 receptor A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.55
p 4.0e-24
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
12 submitters3 publications

Behcet disease; not provided; Deficiency of adenosine deaminase 2; not specified; Autoinflammatory syndrome; ADA2-related disorder

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About ADA2

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

View all ADA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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