rs36225067

This variant is located in the CCND1 gene.

GWAS Catalog Trait Associations (4)

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

serum gamma-glutamyl transferase measurement

Allele A
OR 0.06
p 2.0e-16
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 8.0e-13
N 477,575
Large GWAS
multi-ancestry

calcium measurement

Allele C
OR 0.01
p 9.0e-15
N 305,349
Major Consortium StudyLarge GWAS
European
Allele C
OR 0.05
p 2.0e-12
N 394,642
Large GWAS
European

diabetes mellitus

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 A
OR 0.12
p 4.0e-12
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

prostate carcinoma

Allele C
OR 1.17
p 2.0e-10
N 80,999
Large GWAS
African American or Afro-Caribbean

About CCND1

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]

View all CCND1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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