rs1410492

This is a regulatory region variant variant in the CCND3 gene.

GWAS Catalog Trait Associations (4)

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

erythrocyte volume

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 G
OR 0.16
p 9.9e-324
N 583,955
Major Consortium StudyLarge GWAS
multi-ancestry

Red cell distribution width

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 G
OR 0.09
p 2.0e-120
N 548,926
Major Consortium StudyLarge GWAS
multi-ancestry

erythrocyte count

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 G
OR 0.07
p 3.0e-11
N 114,767
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

mean corpuscular hemoglobin concentration

Allele C
OR
p 1.0e-10
N 642,173
Large GWAS
multi-ancestry

About CCND3

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through 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 activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

View all CCND3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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