Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422231
rs199422231
IDS
CUI: C0342842
Disease: Hunter's syndrome, mild form
Hunter's syndrome, mild form 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113993946
rs113993946
IDS
CUI: C0342841
Disease: Hunter's syndrome, severe form
Hunter's syndrome, severe form 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113993946
rs113993946
IDS
CUI: C0342841
Disease: Hunter's syndrome, severe form
Hunter's syndrome, severe form 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). 9950361

1999
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. 25681085

2015
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. 8364592

1993
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. 16480701

2006
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome. 18500569

2008
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 		T 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. 7581397

1995
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763

1997
dbSNP: rs113993946
rs113993946
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). 9875019

1998
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: rs864622779
rs864622779
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		G 0.800 CausalMutation CLINVAR

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 		C 0.800 CausalMutation CLINVAR

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 		A 0.800 CausalMutation CLINVAR

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 		A 0.800 CausalMutation CLINVAR Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. 9660053

1998
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 		A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157

2017