rs7904519
This is a intron variant variant in the TCF7L2 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
breast carcinoma
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele G
OR 1.03
p 2.0e-13
N 139,274
Large GWAS
multi-ancestry
Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele G
OR 0.96
p 2.0e-13
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele G
OR 1.05
p 9.0e-13
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele G
OR 1.06
p 3.0e-8
N 22,627
Large GWAS
European
promotilin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 3.0e-12
N 47,745
Large GWAS
European
estrogen-receptor negative breast cancer
Milne RL et al. “Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.” Nature Genetics 49(12):1767-1778 (2017)
Allele G
OR 1.08
p 8.0e-10
N 72,261
Large GWAS
European
thoracic aortic aneurysm
Roychowdhury T et al. “Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.” American Journal of Human Genetics 108(9):1578-1589 (2021)
Allele G
OR 0.09
p 3.0e-9
N 19,646
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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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