rs12930452
This variant is located in the CFDP1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
smoking status measurement, chronic obstructive pulmonary disease
Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)
Allele A
OR —
p 1.0e-16
N 200,766
Large GWAS
European
coronary artery disease
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.05
p 1.0e-15
N 296,525
Large GWAS
chronic obstructive pulmonary disease
Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)
Allele A
OR 0.90
p 2.0e-9
N 200,766
Large GWAS
European
About CFDP1
Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in kinetochore. Predicted to be part of Swr1 complex. [provided by Alliance of Genome Resources, Jul 2025]
View all CFDP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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