rs1530440

This is a regulatory region variant variant in the CABCOCO1 gene.

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GWAS Catalog Trait Associations (4)

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

diastolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele T
OR 0.26
p 1.0e-18
N 321,262
Large GWAS
multi-ancestry
Newton-Cheh C et al. “Genome-wide association study identifies eight loci associated with blood pressure.” Nature Genetics 41(6):666-76 (2009)
Allele T
OR 0.39
p 1.0e-9
N 34,433
Large GWAS
multi-ancestry

cryptic phenotype measurement

Blair DR et al. “Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.” Nature Communications 13(1):3675 (2022)
Allele T
OR 0.01
p 6.0e-15
N 308,095
Large GWAS
European

systolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.32
p 7.0e-11
N 321,262
Large GWAS
multi-ancestry

mean arterial pressure

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele T
OR 0.36
p 3.0e-9
N 146,562
Meta-analysisLarge 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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