Disease: RETINITIS PIGMENTOSA 73 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563366896
rs1563366896
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 18024218 2008