rs2686630

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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 0.05

p 1.0e-16

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 G

OR 0.05

p 4.0e-13

N 35,110

Large GWAS

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 8.50

p 3.0e-12

N 32,590

Large GWAS

European

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 G

OR —

β 0.050

p 1.0e-10

N 32,215

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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