rs12258967

This is a intron variant variant in the CACNB2 gene.

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GWAS Catalog Trait Associations (7)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele G

OR 0.55

p 1.0e-90

N 1,028,980

Large GWAS

multi-ancestry

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele G

OR 0.03

p 3.0e-42

N 928,679

Large GWAS

multi-ancestry

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele G

OR 0.65

p 4.0e-58

N 526,001

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.03

p 1.0e-37

N 485,664

Large 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 0.45

p 8.0e-34

N 459,777

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.03

p 1.0e-34

N 394,642

Large GWAS

European

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele G

OR 0.03

p 3.0e-35

N 349,328

Large GWAS

multi-ancestry

diastolic blood pressure

Allele G

OR 0.32

p 2.0e-82

N 1,028,980

Large GWAS

multi-ancestry

Allele G

OR 0.03

p 2.0e-26

N 928,679

Large GWAS

multi-ancestry

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele G

OR 0.37

p 8.0e-56

N 526,001

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.03

p 1.0e-22

N 485,677

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 7.0e-21

N 394,642

Large GWAS

European

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele G

OR 0.03

p 1.0e-13

N 174,664

Large GWAS

multi-ancestry

pulse pressure measurement

Allele G

OR 0.25

p 2.0e-37

N 1,028,980

Large GWAS

multi-ancestry

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele G

OR 0.25

p 7.0e-20

N 526,001

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.02

p 7.0e-24

N 506,308

Large 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 0.23

p 8.0e-16

N 459,777

Large GWAS

multi-ancestry

mean arterial pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.03

p 1.0e-33

N 506,365

Large GWAS

multi-ancestry

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 0.43

p 2.0e-16

N 74,064

Large GWAS

European

hypertension

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.06

p 2.0e-28

N 394,626

Large GWAS

European

Diuretic use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.06

p 1.0e-11

N 407,812

Large GWAS

multi-ancestry

Calcium channel blocker use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)

Allele G

OR 0.06

p 3.0e-11

N 204,378

Major Consortium StudyLarge GWAS

European

About CACNB2

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

rs12258967

GWAS Catalog Trait Associations (7)

systolic blood pressure

diastolic blood pressure

pulse pressure measurement

mean arterial pressure

hypertension

Diuretic use measurement

Calcium channel blocker use measurement

About CACNB2

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