rs72501962

This is a coding sequence variant variant in the CTBP1 gene.

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GWAS Catalog Trait Associations (3)

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

type 2 diabetes mellitus

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.09
p 2.0e-22
N 667,504
Large GWAS
multi-ancestry
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 0.07
p 5.0e-15
N 612,947
Major Consortium StudyLarge GWAS
multi-ancestry
Flannick J et al. “Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.” Nature 570(7759):71-76 (2019)
Allele T
OR 1.15
p 8.0e-12
N 35,912
Large 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 A
OR 0.07
p 5.0e-15
N 611,168
Major Consortium StudyLarge GWAS
multi-ancestry

About CTBP1

This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

View all CTBP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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