Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1434169374
rs1434169374
GUSB
T 0.700 CausalMutation CLINVAR Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 19224584

2009
dbSNP: rs1434169374
rs1434169374
GUSB
T 0.700 CausalMutation CLINVAR Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. 9490302

1998
dbSNP: rs1434169374
rs1434169374
GUSB
T 0.700 CausalMutation CLINVAR A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. 9921904

1998