Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		G 0.700 CausalMutation CLINVAR An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. 23837464

2013