rs4135240

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GWAS Catalog Trait Associations (4)

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

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 T

OR 0.04

p 4.0e-11

N 39,893

Large GWAS

European, NR

aspartate aminotransferase measurement

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)

Allele T

OR 6.44

p 1.0e-10

N 389,565

Large GWAS

multi-ancestry

heart failure

Shah S et al. “Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.” Nature Communications 11(1):163 (2020)

Allele T

OR 1.05

p 7.0e-9

N 977,323

Large GWAS

European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)

Allele C

OR 0.01

p 1.0e-9

N 370,125

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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