Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. 27366019

2016
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

2015
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. 24386122

2013
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. 22676771

2012
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. 12955717

2003
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001