rs2765042

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

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GWAS Catalog Trait Associations (1)

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

intelligence

Davies G et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nature Communications 9(1):2098 (2018)

Allele A

OR 5.52

p 3.0e-8

N 300,486

Large GWAS

European

About CKB

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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