rs445

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

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GWAS Catalog Trait Associations (43)

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

myeloid leukocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 3.0e-310
N 746,667
Large GWAS
multi-ancestry
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 0.11
p 3.0e-73
N 169,219
Large GWAS
European

basophil 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 0.10
p 1.0e-141
N 408,112
Large GWAS
European
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 3.0e-106
N 577,663
Large GWAS
multi-ancestry
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR —
p 3.0e-80
N 234,678
Large GWAS
European
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 0.07
p 5.0e-31
N 171,846
Large GWAS
European

neutrophil 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 0.28
p 1.0e-126
N 38,341
Large GWAS
European

lymphocyte 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 0.08
p 2.0e-89
N 408,112
Large GWAS
European
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 0.06
p 9.0e-65
N 394,642
Large GWAS
European
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 0.07
p 2.0e-27
N 171,748
Large GWAS
European

granulocyte 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 0.10
p 2.0e-65
N 169,822
Large GWAS
European
Sun P et al. “An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.” Human Molecular Genetics 30(9):836-842 (2021)
Allele T
OR —
β 0.040
p 9.0e-11
N 5,257
Large GWAS
East Asian

neutrophil 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 0.10
p 4.0e-64
N 170,384
Large GWAS
European

neutrophil count, basophil 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 0.10
p 5.0e-60
N 170,143
Large GWAS
European

basophil 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 0.06
p 1.0e-54
N 408,112
Large GWAS
European

monocyte 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 0.18
p 3.0e-52
N 39,608
Large GWAS
European

neutrophil 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 0.05
p 3.0e-44
N 408,112
Large GWAS
European
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 0.04
p 3.0e-28
N 394,642
Large GWAS
European
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 0.04
p 2.0e-12
N 171,542
Large GWAS
European
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Research that mentions this SNP (2)

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A functional single nucleotide polymorphism at the promoter region of cyclin A2 is associated with increased risk of colon, liver, and lung cancers
AssociationN=3,085Duk‐Hwan Kim et al.(2011)· Cancer

A functional SNP at the CCNA2 promoter (rs769236, +1 G→A) was associated with significantly increased risk of colorectal cancer (OR=1.67, P<.0001), hepatocellular carcinoma (OR=1.31, P=.02), and lung cancer (OR=2.28, P<.0001) in an expanded case-control study of 1,989 cancer patients and 1,096 controls. Functional assays demonstrated the A allele had 1.5-fold greater luciferase activity than the G allele, independent of cell cycle.

Traits studied:Breast cancerColorectal cancerGastric cancerHepatocellular carcinomaLung cancer
PubMedDOIMetascience Observatory
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Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
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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