Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.810 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs864622779
rs864622779
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs864622779
rs864622779
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs864622773
rs864622773
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs864622773
rs864622773
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs398123249
rs398123249
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs398123249
rs398123249
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs199422231
rs199422231
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs199422231
rs199422231
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs199422229
rs199422229
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs199422229
rs199422229
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs199422228
rs199422228
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs199422228
rs199422228
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Expression of five iduronate-2-sulfatase site-directed mutations. 10838181

2000
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. 7887413

1995
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). 9501270

1998
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. 7599640

1995
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. 7581397

1995
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. 11731225

2001
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). 7728156

1995
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. 11683780

2001
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. 8566953

1996
dbSNP: rs193302911
rs193302911
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 1303211

1992