rs4795371

This variant is located in the CDK12 gene.

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GWAS Catalog Trait Associations (1)

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

serum creatinine amount, histidine measurement

Valo E et al. “Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.” Nature Communications 16(1):325 (2025)

Allele T

OR 0.22

p 5.0e-18

N 4,969

Large GWAS

European

About CDK12

Enables RNA polymerase II CTD heptapeptide repeat kinase activity and cyclin binding activity. Involved in several processes, including positive regulation of transcription elongation by RNA polymerase II; protein autophosphorylation; and regulation of MAP kinase activity. Located in nuclear speck. Part of cyclin K-CDK12 complex. Biomarker of gastric adenocarcinoma; hepatocellular carcinoma; and stomach cancer. [provided by Alliance of Genome Resources, Apr 2025]

View all CDK12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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