Gene: ARSB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554032110
rs1554032110
ARSB
G 0.700 CausalMutation CLINVAR The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia. 28914427

2018
dbSNP: rs765711776
rs765711776
ARSB
C 0.700 CausalMutation CLINVAR The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia. 28914427

2018
dbSNP: rs1255777033
rs1255777033
ARSB
A 0.700 CausalMutation CLINVAR Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. 28884960

2017
dbSNP: rs1554032217
rs1554032217
ARSB
T 0.700 GeneticVariation CLINVAR Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 27826022

2017
dbSNP: rs1554074132
rs1554074132
ARSB
T 0.700 GeneticVariation CLINVAR Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. 28884960

2017
dbSNP: rs1554079302
rs1554079302
ARSB
T 0.700 CausalMutation CLINVAR Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. 28884960

2017
dbSNP: rs1554089838
rs1554089838
ARSB
T 0.700 CausalMutation CLINVAR Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 27826022

2017
dbSNP: rs749989641
rs749989641
ARSB
C 0.700 GeneticVariation CLINVAR A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. 28552677

2017
dbSNP: rs773492223
rs773492223
ARSB
A 0.700 CausalMutation CLINVAR How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. 28858097

2017
dbSNP: rs781510986
rs781510986
ARSB
G 0.700 CausalMutation CLINVAR A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. 28552677

2017
dbSNP: rs79970603
rs79970603
ARSB
A 0.700 GeneticVariation CLINVAR Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 27826022

2017
dbSNP: rs1465993279
rs1465993279
ARSB
A 0.700 CausalMutation CLINVAR Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 26909334

2016
dbSNP: rs1554079318
rs1554079318
ARSB
T 0.700 CausalMutation CLINVAR Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 26909334

2016
dbSNP: rs431905495
rs431905495
ARSB
G 0.700 CausalMutation CLINVAR Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 26909334

2016
dbSNP: rs431905496
rs431905496
ARSB
C 0.700 GeneticVariation CLINVAR Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings. 26910003

2016
dbSNP: rs1408739927
rs1408739927
ARSB
T 0.700 GeneticVariation 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: rs1554032090
rs1554032090
ARSB
C 0.700 GeneticVariation CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033

2015
dbSNP: rs1554032090
rs1554032090
ARSB
C 0.700 GeneticVariation CLINVAR Mutations in ARSB in MPS VI patients in India. 26937411

2015
dbSNP: rs1554032216
rs1554032216
ARSB
T 0.700 GeneticVariation CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033

2015
dbSNP: rs1554032217
rs1554032217
ARSB
T 0.700 GeneticVariation CLINVAR Mutations in ARSB in MPS VI patients in India. 26937411

2015
dbSNP: rs1554032217
rs1554032217
ARSB
T 0.700 GeneticVariation CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033

2015
dbSNP: rs1554074118
rs1554074118
ARSB
G 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: rs1554079268
rs1554079268
ARSB
T 0.700 GeneticVariation CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs1554079284
rs1554079284
ARSB
G 0.700 GeneticVariation CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033

2015
dbSNP: rs1554079296
rs1554079296
ARSB
T 0.700 CausalMutation CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033

2015