rs78069066

This is a coding sequence variant variant in the MAPKAPK5 gene.

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GWAS Catalog Trait Associations (7)

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

blood urea nitrogen amount

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.02
p 2.0e-19
N 58,406
Large GWAS
East Asian

glomerular filtration rate

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.83
p 2.0e-19
N 58,406
Large GWAS
East Asian

carbohydrate intake measurement

Nakamura Y et al. “A genome-wide association study on adherence to low-carbohydrate diets in Japanese.” European Journal of Clinical Nutrition 76(8):1103-1110 (2022)
Allele A
OR —
p 7.0e-16
N 14,076
Large GWAS
East Asian

cirrhosis of liver

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele A
OR 0.76
p 1.0e-12
N 212,453
Large GWAS
East Asian

blood copper level

Yang W et al. “Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.” Communications Biology 5(1):405 (2022)
Allele A
OR 0.24
p 4.0e-9
N 1,798
Large GWAS
East Asian

About MAPKAPK5

The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

View all MAPKAPK5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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