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: rs749012588
rs749012588
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.700 GeneticVariation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920 2010
dbSNP: rs749012588
rs749012588
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.700 GeneticVariation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231 2001
dbSNP: rs749012588
rs749012588
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.700 CausalMutation CLINVAR