Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965019
rs121965019
IDUA
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.710 GeneticVariation BEFREE 678-7g-->a was found to be a mild mutation, since it was present in an index Scheie syndrome patient in combination with a severe allele (W402X). 8213840

1993