rs12449170
This is a intron variant variant in the CFDP1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
pulse pressure measurement
Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele T
OR 0.23
p 1.0e-19
N 459,777
Large GWAS
multi-ancestry
systolic blood pressure
Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele T
OR 0.30
p 1.0e-19
N 459,777
Large GWAS
multi-ancestry
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 C
OR —
p 6.0e-17
N 200,766
Large GWAS
European
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 C
OR 0.90
p 9.0e-16
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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