Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965021
rs121965021
IDUA
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.710 GeneticVariation BEFREE In addition we have also analysed the P533R mutation because of its frequency in the close Mediterranean country Italy and mutations R89Q and 678-7g->a because of its prevalence in European Scheie syndrome. 10215409

1998