Disease: MPS III C ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554537841
rs1554537841
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1554537841
rs1554537841
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		G 0.700 GeneticVariation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962 2009