Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143124972
rs143124972
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. 23146215

2012
dbSNP: rs143124972
rs143124972
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. 21245028

2011
dbSNP: rs143124972
rs143124972
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs143124972
rs143124972
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. 16126423

2006
dbSNP: rs143124972
rs143124972
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
dbSNP: rs143124972
rs143124972
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290

1999