rs2240736

This variant is located in the TBX2 gene.

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GWAS Catalog Trait Associations (5)

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

glomerular filtration rate

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele T
OR 0.57
p 3.0e-17
N 58,406
Large GWAS
East Asian

hypertension, Antihypertensive use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 1.0e-13
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

systolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.29
p 1.0e-10
N 321,262
Large GWAS
multi-ancestry
Teixeira SK et al. “Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts.” Scientific Reports 14(1):28123 (2024)
Allele C
OR 0.37
p 1.0e-8
N 286,581
Large GWAS
European

nephrolithiasis

Lovegrove CE et al. “Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.” Journal of the American Society of Nephrology : Jasn 34(12):1991-2011 (2023)
Allele T
OR 1.07
p 4.0e-8
N 739,048
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Vertebral anomalies and variable endocrine and T-cell dysfunction; 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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