rs747249
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 A
OR 0.04
p 7.0e-13
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 A
OR 0.05
p 1.0e-11
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 A
OR 0.05
p 2.0e-12
N 31,908
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 A
OR 8.33
p 2.0e-11
N 32,590
Large GWAS
European
BMI-adjusted waist-hip ratio
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.01
p 1.0e-9
N 379,501
Meta-analysisLarge GWAS
European
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele A
OR 0.01
p 2.0e-9
N 660,648
Large GWAS
European
waist-hip ratio
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.01
p 3.0e-9
N 697,734
Meta-analysisLarge GWAS
European
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele A
OR —
p 5.0e-8
N 663,598
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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