rs42035

This variant is located in the CDK6 gene.

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GWAS Catalog Trait Associations (2)

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

platelet crit

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 5.0e-16

N 394,642

Large GWAS

European

platelet count

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)

Allele G

OR 0.08

p 4.0e-9

N 72,816

Large GWAS

East Asian

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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 & 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

PubMed DOI Metascience 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]