rs9721183

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GWAS Catalog Trait Associations (4)

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

ascending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.05
p 6.0e-16
N 38,372
Large GWAS
European, NR
Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)
Allele C
OR 0.05
p 3.0e-15
N 33,637
Large GWAS
European

aortic measurement

Benjamins JW et al. “Genomic insights in ascending aortic size and distensibility.” Ebiomedicine 75:103783 (2022)
Allele C
OR 0.05
p 1.0e-13
N 35,110
Large GWAS
Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.04
p 8.0e-11
N 38,499
Large GWAS
European, NR
Tcheandjieu C et al. “High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease.” Nature Genetics 54(6):772-782 (2022)
Allele C
OR —
β 0.050
p 1.0e-9
N 32,215
Large GWAS
European
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 C
OR —
β 0.040
p 6.0e-10
N 29,895
Large GWAS
European

descending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.03
p 4.0e-9
N 39,893
Large GWAS
European, NR

aorta size trait

Basty N et al. “Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.” Communications Medicine 6(1):70 (2026)
Allele T
OR 0.05
p 1.0e-9
N 35,492
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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