rs5742913

This is a protein-altering variant in the TCF7 gene.

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GWAS Catalog Trait Associations (3)

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

eosinophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 9.0e-19
N 408,112
Large GWAS
European
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.03
p 2.0e-17
N 474,237
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-12
N 394,642
Large GWAS
European
Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)
Allele A
OR 0.03
p 8.0e-9
N 365,954
Large GWAS
European

eosinophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 2.0e-16
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-14
N 394,642
Large GWAS
European

asthma

Saarentaus EC et al. “131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma.” Nature Communications 16(1):9879 (2025)
Allele A
OR 1.06
p 3.0e-10
N 757,083
Large GWAS
European

About TCF7

This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016]

View all TCF7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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