Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs904672363
rs904672363
NAGLU
A 0.700 CausalMutation CLINVAR Natural history of Sanfilippo syndrome in Spain. 24314109

2013
dbSNP: rs904672363
rs904672363
NAGLU
A 0.700 CausalMutation CLINVAR Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 10094189

1999
dbSNP: rs904672363
rs904672363
NAGLU
A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. 9950362

1999