rs66478136

This variant is located in the FGGY gene.

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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. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)

Allele T

OR 0.04

p 2.0e-10

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 T

OR 0.04

p 3.0e-9

N 33,637

Large GWAS

European

About FGGY

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

View all FGGY variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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