rs55715427
This variant is located in the NAGA 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.
chronotype measurement
Jansen PR et al. “Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.” Nature Genetics 51(3):394-403 (2019)
Allele C
OR 0.02
p 1.0e-9
N 434,835
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
5 submitters2 publicationsAlpha-N-acetylgalactosaminidase deficiency type 1; Alpha-N-acetylgalactosaminidase deficiency type 2; not provided
View on ClinVar →About NAGA
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
View all NAGA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…