rs149354459

This variant is located in the CKM gene.

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GWAS Catalog Trait Associations (1)

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

creatine kinase measurement

Kristjansson RP et al. “Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.” Nature Communications 7:10572 (2016)

Allele G

OR 0.55

p 6.0e-20

N 63,159

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

View on ClinVar →

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]

View all CKM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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