rs2001546
This is a downstream gene variant variant in the CDC123 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
chronic obstructive pulmonary disease
Cosentino J et al. “Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.” Nature Genetics 55(5):787-795 (2023)
Allele A
OR 0.04
p 7.0e-83
N 325,027
Large GWAS
European
Joo J et al. “Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.” Amia ... Annual Symposium Proceedings. Amia Symposium 2021:601-610 (2021)
Allele A
OR 0.92
p 7.0e-10
N 135,025
Large GWAS
European
FEV/FVC ratio
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 0.03
p 9.0e-74
N 394,642
Large GWAS
European
About CDC123
Enables ATP binding activity and magnesium ion binding activity. Involved in eukaryotic translation initiation factor 2 complex assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all CDC123 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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