rs4590817
This is a intron variant variant in the CABCOCO1 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.
mean arterial pressure
Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele G
OR 0.58
p 2.0e-18
N 74,064
Large GWAS
European
diastolic blood pressure
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.44
p 4.0e-13
N 150,134
Large GWAS
multi-ancestry
diastolic blood pressure change measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 4.0e-13
N 609,486
Major Consortium StudyLarge GWAS
multi-ancestry
systolic blood pressure
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.70
p 1.0e-12
N 150,134
Large GWAS
multi-ancestry
About CABCOCO1
Predicted to enable calcium ion binding activity. Predicted to act upstream of or within sperm flagellum assembly. Predicted to be located in centrosome; cytoplasm; and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]
View all CABCOCO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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