rs9821489

This is a intron variant variant in the CACNA1D gene.

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GWAS Catalog Trait Associations (5)

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

diastolic blood pressure

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 0.05
p 1.0e-23
N 609,354
Major Consortium StudyLarge GWAS
multi-ancestry
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 G
OR 0.50
p 1.0e-13
N 459,777
Large GWAS
multi-ancestry
Udosen B et al. “Meta-Analysis and Multivariate GWAS Analyses in 80,950 Individuals of African Ancestry Identify Novel Variants Associated with Blood Pressure Traits.” International Journal of Molecular Sciences 24(3) (2023)
Allele G
OR 0.04
p 2.0e-13
N 80,950
Meta-analysisLarge GWAS
African unspecified

hypertension

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 0.09
p 6.0e-14
N 608,262
Major Consortium StudyLarge GWAS
multi-ancestry

systolic blood pressure

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 2.0e-13
N 609,497
Major Consortium StudyLarge GWAS
multi-ancestry

essential hypertension

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 0.08
p 2.0e-11
N 116,845
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

potassium 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 0.04
p 4.0e-16
N 118,507
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

About CACNA1D

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all CACNA1D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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