Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894598
rs104894598
NAGLU
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis. 23380547

2013
dbSNP: rs104894598
rs104894598
NAGLU
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. 9950362

1999