Disease: Retinal Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908282
rs121908282
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006