rs79215950

This is a intron variant variant in the TBX20 gene.

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GWAS Catalog Trait Associations (2)

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

ascending aorta diameter

Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)

Allele G

OR —

β 0.065

p 8.0e-23

N 38,694

Large GWAS

European

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)

Allele G

OR 0.06

p 1.0e-21

N 38,372

Large GWAS

European, NR

aortic measurement

Francis CM et al. “Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.” Nature Communications 13(1):4505 (2022)

Allele G

OR 8.84

p 4.0e-13

N 32,590

Large GWAS

European

About TBX20

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

rs79215950

GWAS Catalog Trait Associations (2)

ascending aorta diameter

aortic measurement

About TBX20

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