Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825

2011
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. 15300847

2004
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846

2003
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. 10735634

2000
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 10466419

1999
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 7550232

1995
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242

1995
dbSNP: rs750496798
rs750496798
IDUA
0.700 GeneticVariation UNIPROT Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene. 8401515

1993