rs17819994

This variant is located in the TCF12 gene.

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GWAS Catalog Trait Associations (1)

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

type 2 diabetes mellitus

Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)
Allele G
OR 0.08
p 2.0e-8
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
4 submitters2 publications

not specified; not provided

View on ClinVar →

About TCF12

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

View all TCF12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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