rs7543130

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (6)

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

cardiovascular measurement

Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele C
OR 0.05
p 3.0e-30
N 96,385
Large GWAS
European

aortic stenosis, aortic valve calcification

Small AM et al. “Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.” Circulation 147(12):942-955 (2023)
Allele A
OR 1.14
p 6.0e-24
N 412,995
Major Consortium StudyLarge GWAS
multi-ancestry

heart valve prosthesis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.15
p 2.0e-23
N 448,713
Major Consortium StudyLarge GWAS
European

aortic stenosis

Helgadottir A et al. “Genome-wide analysis yields new loci associating with aortic valve stenosis.” Nature Communications 9(1):987 (2018)
Allele A
OR 1.20
p 1.0e-22
N 351,799
Large GWAS
European

Bicuspid aortic valve

Fulmer D et al. “Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis.” Circulation 140(16):1331-1341 (2019)
Allele A
OR —
p 2.0e-8
N 2,286
Large GWAS
European

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele A
OR 0.03
p 4.0e-19
N 1,840,341
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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