rs42033

This is a 3 prime utr variant variant in the CDK6 gene.

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GWAS Catalog Trait Associations (7)

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

leukocyte quantity

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.08
p 5.0e-65
N 408,112
Large GWAS
European

neutrophil count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 2.0e-41
N 394,642
Large GWAS
European

eosinophil measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.11
p 1.0e-28
N 30,531
Large GWAS
European

neutrophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 6.0e-24
N 394,642
Large GWAS
European

lymphocyte percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 8.0e-23
N 394,642
Large GWAS
European

basophil count, eosinophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.03
p 2.0e-13
N 171,771
Large GWAS
European

platelet count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 1.0e-12
N 394,642
Large GWAS
European
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Research that mentions this SNP (1)

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CDK6 3'UTR polymorphisms alter the susceptibility to cervical cancer among Uyghur females
AssociationN=616Kailibinuer Aierken et al.(2019)· Molecular Genetics &amp; Genomic Medicine

A case-control study of 306 cervical cancer cases and 310 healthy Uyghur female controls found that CDK6 3'UTR variants rs8179 and rs42033 reduced cervical cancer susceptibility (OR=0.60, 95% CI 0.37-0.99, p=0.043). rs8179, rs42032, and rs42033 showed stronger protective effects against high-grade cervical cancer (OR=0.35-0.43, p<0.01). CDK6 expression was significantly reduced in cervical tumors.

Traits studied:Cervical cancerHigh-grade cervical cancer
PubMedDOIMetascience Observatory

About CDK6

The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]

View all CDK6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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