rs11112482

This is a intron variant variant in the C12orf75 gene.

GWAS Catalog Trait Associations (1)

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 C
OR
β 0.039
p 2.0e-8
N 38,694
Large GWAS
European
Pirruccello JP et al. The Genetic Determinants of Aortic Distention. Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.04
p 3.0e-8
N 38,372
Large GWAS
European, NR

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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