rs1061657

This variant is located in the TBX3 gene.

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GWAS Catalog Trait Associations (6)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.01
p 5.0e-81
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

IGF-1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.02
p 7.0e-17
N 353,824
Major Consortium StudyLarge GWAS
multi-ancestry

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.02
p 4.0e-16
N 450,243
Major Consortium StudyLarge GWAS
European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.13
p 2.0e-11
N 1,028,980
Large GWAS
multi-ancestry

breast carcinoma

Zhang H et al. “Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.” Nature Genetics 52(6):572-581 (2020)
Allele C
OR 1.04
p 3.0e-10
N 247,173
Large GWAS
European

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.17
p 1.0e-9
N 1,028,980
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Ulnar-mammary syndrome; not provided

View on ClinVar →

About TBX3

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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

View all TBX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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