Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 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: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR The natural history of Niemann-Pick disease type C in the UK. 17160617

2007
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 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: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR The NPC1 protein: structure implies function. 15465421

2004
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Niemann-Pick disease type C. 12974729

2003
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 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
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. 11333381

2001
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290

1999
dbSNP: rs786204714
rs786204714
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. 3378364

1988