Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773492223
rs773492223
A 0.700 CausalMutation CLINVAR How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. 28858097

2017

dbSNP: rs773492223
rs773492223
A 0.700 CausalMutation CLINVAR Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. 25654180

2015

dbSNP: rs773492223
rs773492223
A 0.700 CausalMutation CLINVAR [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 25190157

2014

dbSNP: rs773492223
rs773492223
A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332

2013

dbSNP: rs773492223
rs773492223
A 0.700 CausalMutation CLINVAR Mutational analysis of 105 mucopolysaccharidosis type VI patients. 17458871

2007

dbSNP: rs773492223
rs773492223
A 0.700 CausalMutation CLINVAR Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. 14974081

2004