Disease: Niemann-Pick Disease, Type C1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352883
rs483352883
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		G 0.700 CausalMutation CLINVAR