rs4678680
This is a intergenic variant variant in the GLB1 gene.
▶Research that mentions this SNP (1)
▶Genetic Variations at Loci Involved in the Immune Response Are Risk Factors for Hepatocellular CarcinomaAssociationN=1,159Robert J. Clifford et al.(2010)· Hepatology
Genome-wide association study identifying genetic variations affecting hepatocellular carcinoma (HCC) susceptibility in Korean populations. Strong associations found with CNV at T-cell receptor loci (TRA@, TRG@; P < 1×10^-15) and SNPs in MHC class II regions (rs9267673, rs2647073, rs3997872). Antigen presentation and processing pathway showed highly significant association (P = 1×10^-11). TPTE2 SNP rs2880301 distinguished HCC from cirrhosis (P = 1.74×10^-12).
About GLB1
This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
View all GLB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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