Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555634422
rs1555634422
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309

2017
dbSNP: rs1555634422
rs1555634422
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. 27139891

2016
dbSNP: rs1555634422
rs1555634422
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs1555634422
rs1555634422
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. 25236789

2014
dbSNP: rs1555634422
rs1555634422
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 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