rs8

This is a regulatory region variant variant in the CDK6 gene.

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GWAS Catalog Trait Associations (5)

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

eosinophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.03
p 9.0e-20
N 408,112
Large GWAS
European

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 1.0e-19
N 337,739
Large GWAS
European

eosinophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.03
p 3.0e-19
N 408,112
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 8.0e-10
N 171,771
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 0.08
p 2.0e-15
N 30,352
Large GWAS
European
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Research that mentions this SNP (1)

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Replication and cross‐phenotype study based upon schizophrenia GWASs data in the Japanese population: Support for association of MHC region with psychosis
MethodsN=11,179Takeo Saito et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This paper introduces CICC (Conditional Informatics Correlation Coefficient), a novel haplotype-aware linkage disequilibrium (LD) measure for characterizing genetic structure in the HLA region. Using HPRC, 1000 Genomes, and Genome Asia datasets across 11,179 samples, the authors identified 10 novel high-LD regions in HLA and 9 strongly linked regions shared across five global populations (African, European, East Asian, South Asian, and American). CICC demonstrated superior ability to capture complex LD structures and identify GWAS-validated disease loci compared to conventional LD measures like r² and D'.

Traits studied:Alzheimer's diseaseAutoimmune diseasesBipolar disorderDepressionPsoriasisPsychiatric disordersSchizophrenia
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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