Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352896
rs483352896
HGSNAT
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 0.700 CausalMutation CLINVAR Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 20825431

2011
dbSNP: rs483352896
rs483352896
HGSNAT
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 0.700 CausalMutation CLINVAR Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. 18518886

2008