rs17593423
This variant is located in the UNC45A gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
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 C
OR 0.04
p 2.0e-8
N 39,893
Large GWAS
European, NR
▶ClinVar annotation
Benign★★★☆
4 submitters2 publicationsnot provided; UNC45A-related disorder; not specified
View on ClinVar →About UNC45A
This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]
View all UNC45A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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