rs61751978

This variant is located in the TBX2 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele C

OR 0.03

p 2.0e-9

N 405,540

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters

TBX2-related disorder; not provided

View on ClinVar →

About TBX2

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]

View all TBX2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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