Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. 26984608

2016
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. 23774949

2014
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. 23427322

2013
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. 23433426

2013
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease. 22750297

2012
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Molecular analysis of 30 Niemann-Pick type C patients from Spain. 20718790

2011
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. 15459971

2004
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs28942108
rs28942108
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001