rs2489204

This is a intron variant variant in the CACNB2 gene.

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GWAS Catalog Trait Associations (2)

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 C

OR 0.25

p 1.0e-14

N 1,028,980

Large GWAS

multi-ancestry

diastolic blood pressure

Allele C

OR 0.15

p 8.0e-13

N 1,028,980

Large GWAS

multi-ancestry

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]

View all CACNB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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