rs10402747

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

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GWAS Catalog Trait Associations (3)

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

educational attainment

Okbay A et al. “Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.” Nature Genetics 54(4):437-449 (2022)

Allele T

OR 0.01

p 7.0e-11

N 3,037,499

Large GWAS

European

self reported educational attainment

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele T

OR 0.01

p 2.0e-9

N 1,311,438

Large GWAS

European

cognitive function measurement

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele T

OR 0.01

p 5.0e-9

N 402,382

Large GWAS

European

About CKM

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

rs10402747

GWAS Catalog Trait Associations (3)

educational attainment

self reported educational attainment

cognitive function measurement

About CKM

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