rs4795384

This is a intron variant variant in the CDK12 gene.

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GWAS Catalog Trait Associations (3)

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

glomerular filtration rate

Morris AP et al. “Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.” Nature Communications 10(1):29 (2019)
Allele G
OR 0.40
p 2.0e-24
N 312,296
Large GWAS
multi-ancestry

bladder calculus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.07
p 2.0e-17
N 616,206
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 2.0e-13
N 570,819
Major Consortium StudyLarge GWAS
multi-ancestry

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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