rs6857337
This variant is located in the UGT8 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.
nephrolithiasis
Lovegrove CE et al. “Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.” Journal of the American Society of Nephrology : Jasn 34(12):1991-2011 (2023)
Allele T
OR 1.10
p 3.0e-14
N 739,048
Large GWAS
European
About UGT8
The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
View all UGT8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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