Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555621442
rs1555621442
NAGLU
GGCGGC 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935

2010
dbSNP: rs1555621442
rs1555621442
NAGLU
GGCGGC 0.700 CausalMutation CLINVAR Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. 11153910

2000
dbSNP: rs1555621442
rs1555621442
NAGLU
GGCGGC 0.700 CausalMutation CLINVAR Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 10094189

1999