Gene: IDS ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557339927
rs1557339927
IDS
T 0.700 CausalMutation CLINVAR Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 27351199

2017
dbSNP: rs886044835
rs886044835
IDS
T 0.700 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157

2017
dbSNP: rs864622772
rs864622772
IDS
A 0.700 CausalMutation CLINVAR Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. 27246110

2016
dbSNP: rs886044835
rs886044835
IDS
T 0.700 CausalMutation CLINVAR Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. 27246110

2016
dbSNP: rs886044835
rs886044835
IDS
T 0.700 CausalMutation CLINVAR Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. 26762690

2016
dbSNP: rs113993948
rs113993948
IDS
A 0.700 CausalMutation CLINVAR Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. 26693516

2015
dbSNP: rs113993948
rs113993948
IDS
A 0.700 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: rs104894860
rs104894860
IDS
A 0.700 CausalMutation CLINVAR Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene. 24780617

2014
dbSNP: rs1557338581
rs1557338581
IDS
A 0.700 GeneticVariation CLINVAR Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 24125893

2014
dbSNP: rs1569560527
rs1569560527
IDS
A 0.700 CausalMutation CLINVAR Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. 24268528

2014
dbSNP: rs193302904
rs193302904
IDS
T 0.700 GeneticVariation CLINVAR Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome). 27896113

2014
dbSNP: rs886044835
rs886044835
IDS
T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 24125893

2014
dbSNP: rs1569560392
rs1569560392
IDS
C 0.700 CausalMutation CLINVAR Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells. 22990955

2012
dbSNP: rs104894860
rs104894860
IDS
A 0.700 CausalMutation CLINVAR Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing. 21829674

2011
dbSNP: rs113993948
rs113993948
IDS
A 0.700 CausalMutation CLINVAR Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing. 21829674

2011
dbSNP: rs1569560392
rs1569560392
IDS
C 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type II: an update on mutation spectrum. 17391447

2007
dbSNP: rs864622772
rs864622772
IDS
A 0.700 CausalMutation CLINVAR [Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]. 17284421

2007
dbSNP: rs113993948
rs113993948
IDS
A 0.700 CausalMutation CLINVAR Among 16 unrelated Portuguese MPS II patients, 15 different mutations were identified: six intronic splice mutations (c.104-2AG, c.241-2A>G, c.241-1G>A, c.418+1G>A, c.880-8AG and c.1181-1G>C); two exonic splice mutations (c.1006G>lC and c.1122C>T); five missense mutations (D269V, D69V, D148N, R88C and P86L); one nonsense mutation (Q465Ter); one total IDS gene deletion; and one rearrangement involving a IDS gene inversion. 17063374

2006
dbSNP: rs145807417
rs145807417
IDS
0.700 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006
dbSNP: rs146458524
rs146458524
IDS
0.700 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006
dbSNP: rs1557338581
rs1557338581
IDS
A 0.700 GeneticVariation CLINVAR Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. 17063374

2006
dbSNP: rs193302905
rs193302905
IDS
0.700 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006
dbSNP: rs193302909
rs193302909
IDS
0.700 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006
dbSNP: rs201048643
rs201048643
IDS
0.700 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006
dbSNP: rs398123250
rs398123250
IDS
0.700 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006