rs1065359

This variant is located in the CAMK2B gene.

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GWAS Catalog Trait Associations (1)

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

vital capacity

Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)

Allele A

OR 6.57

p 5.0e-11

N 588,452

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

Intellectual disability, autosomal dominant 54; not provided

View on ClinVar →

About CAMK2B

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

rs1065359

GWAS Catalog Trait Associations (1)

vital capacity

ClinVar annotation

About CAMK2B

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