rs118124843
This variant is located in the VARS2 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.
Moderate albuminuria
Salem RM et al. “Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.” Journal of the American Society of Nephrology : Jasn 30(10):2000-2016 (2019)
Allele T
OR 3.79
p 4.0e-8
N 14,560
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout VARS2
This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
View all VARS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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