rs114322470
This is a intron variant variant in the TCF7L2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele T
OR —
p 8.0e-51
N 2,535,601
Large GWAS
multi-ancestry
Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)
Allele T
OR 0.24
p 5.0e-17
N 421,743
Large GWAS
multi-ancestry
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele T
OR 0.15
p 1.0e-9
N 251,740
Large GWAS
European
About TCF7L2
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
View all TCF7L2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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