Gene: IDS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993946
rs113993946
IDS
0.810 GeneticVariation BEFREE In a sequence analysis of the iduronate-2-sulfatase gene, evidence was obtained for the R468Q (G1403 to A) mutation, a common one in Hunter disease. 9375851

1997
dbSNP: rs113993946
rs113993946
IDS
0.810 GeneticVariation BEFREE These findings strongly suggest that the severe form of Hunter disease in this girl was the result of selective expression of the maternal allele carrying the missense mutation R468Q, which in turn resulted from skewed X inactivation of the paternal nonmutant X chromosome. 9375851

1997
dbSNP: rs199422227
rs199422227
IDS
0.710 GeneticVariation BEFREE A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. 21108396

2010
dbSNP: rs61736892
rs61736892
IDS
0.710 GeneticVariation BEFREE In addition, three known polymorphisms/sequence variants: IVS3-16 (c.419-16 delT), T214M (c.641C > T), T146T (c.438 C > T), IVS5-87(c.709-87G > A) and one previously unknown: IVS7+38(c.1006+38T > C were identified in the MPS II patients. 21605424

2011
dbSNP: rs113993946
rs113993946
IDS
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
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
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
T 0.810 CausalMutation CLINVAR Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). 9875019

1998
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763

1997
dbSNP: rs113993946
rs113993946
IDS
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
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
T 0.810 CausalMutation CLINVAR Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. 25681085

2015
dbSNP: rs104894853
rs104894853
IDS
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894856
rs104894856
IDS
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894861
rs104894861
IDS
C 0.800 CausalMutation CLINVAR

dbSNP: rs113993949
rs113993949
IDS
T 0.800 CausalMutation CLINVAR Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 27351199

2017
dbSNP: rs1557340280
rs1557340280
IDS
A 0.800 CausalMutation CLINVAR Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. 26407519

2015
dbSNP: rs1557340280
rs1557340280
IDS
A 0.800 CausalMutation CLINVAR Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). 7728156

1995
dbSNP: rs1557340280
rs1557340280
IDS
A 0.800 CausalMutation CLINVAR COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations. 9573369

1998
dbSNP: rs1557340280
rs1557340280
IDS
A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157

2017
dbSNP: rs193302911
rs193302911
IDS
T 0.800 CausalMutation CLINVAR

dbSNP: rs199422228
rs199422228
IDS
G 0.800 CausalMutation CLINVAR

dbSNP: rs199422229
rs199422229
IDS
C 0.800 CausalMutation CLINVAR

dbSNP: rs199422231
rs199422231
IDS
A 0.800 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 24125893

2014
dbSNP: rs199422231
rs199422231
IDS
A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157

2017