rs17470137

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GWAS Catalog Trait Associations (3)

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

aortic measurement

Benjamins JW et al. “Genomic insights in ascending aortic size and distensibility.” Ebiomedicine 75:103783 (2022)
Allele G
OR 0.07
p 5.0e-19
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 G
OR 0.04
p 2.0e-9
N 32,639
Large GWAS
European, NR

bulb of aorta size

Ramachandran S. Vasan et al. “Genetic Variants Associated With Cardiac Structure and Function” Jama (2009)
Allele A
OR 0.03
p 1.0e-11
N 12,612
Large GWAS
European

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 G
OR 0.06
p 2.0e-18
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 G
OR 0.06
p 4.0e-17
N 33,637
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic Variants Associated With Cardiac Structure and Function
Meta-analysisN=16,706Ramachandran S. Vasan et al.(2009)· JAMA

Meta-analysis of genome-wide association studies in 12,612 individuals from the EchoGen consortium identified 16 genetic loci associated with echocardiographic traits in stage 1, with 5 loci replicating in stage 2: rs89107 and rs11153768 (6q22) associated with left ventricular diastolic dimensions (explaining <1% variance), and rs17470137, rs4026608, rs10770612, rs893817 (5q23, 12q14, 12p12, 15q24 loci) associated with aortic root size (explaining 1-3% variance).

Traits studied:Aortic root sizeLeft atrial sizeLeft ventricular diastolic internal dimensionsLeft ventricular massLeft ventricular systolic dysfunctionLeft ventricular wall thickness
PubMedDOIMetascience Observatory

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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