rs3176468

This is a intron variant variant in the CDKN2C gene.

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GWAS Catalog Trait Associations (7)

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

body height

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 T
OR 0.08
p 5.0e-64
N 607,511
Major Consortium StudyLarge GWAS
multi-ancestry
Graff M et al. “Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.” American Journal of Human Genetics 108(4):564-582 (2021)
Allele T
OR 0.06
p 1.0e-12
N 41,389
Large GWAS
multi-ancestry

body mass index

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 T
OR 0.04
p 5.0e-17
N 607,387
Major Consortium StudyLarge GWAS
multi-ancestry

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 T
OR 0.06
p 6.0e-15
N 611,168
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride measurement

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 T
OR 0.03
p 3.0e-11
N 558,012
Major Consortium StudyLarge GWAS
multi-ancestry

body weight

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 T
OR 0.06
p 9.0e-27
N 119,284
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

glucose measurement

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 T
OR 0.03
p 9.0e-15
N 601,111
Major Consortium StudyLarge GWAS
multi-ancestry

HbA1c measurement

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 T
OR 0.04
p 1.0e-11
N 98,578
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

About CDKN2C

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]

View all CDKN2C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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