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: rs113993946
rs113993946
IDS
0.810 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

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

2012
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. 11683780

2001
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). 7728156

1995
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763

1997
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. 10215411

1998
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). 7981716

1994
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT "Mucopolysaccharidosis type II (Hunter syndrome): mutation ""hot spots"" in the iduronate-2-sulfatase gene." 8940265

1996
dbSNP: rs104894853
rs104894853
IDS
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: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. 8566953

1996
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 1303211

1992
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. 1284597

1992
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. 7599640

1995
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. 9921913

1998
dbSNP: rs104894853
rs104894853
IDS
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: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Hunter disease in the Spanish population: molecular analysis in 31 families. 9762601

1998
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754

2006
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Expression of five iduronate-2-sulfatase site-directed mutations. 10838181

2000
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. 9375851

1997
dbSNP: rs104894853
rs104894853
IDS
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: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. 11731225

2001