rs7665090
This is a downstream gene variant variant in the MANBA gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
primary biliary cirrhosis
Liu JZ et al. “Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 44(10):1137-41 (2012)
Allele G
OR 1.26
p 8.0e-14
N 11,375
Large GWAS
European
biliary liver cirrhosis
Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)
Allele C
OR 1.26
p 4.0e-12
N 7,003
Large GWAS
European
multiple sclerosis
Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele G
OR 1.09
p 1.0e-8
N 38,589
Large GWAS
European
About MANBA
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
View all MANBA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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