Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074135
rs120074135
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Genome sequencing in a case of Niemann-Pick type C. 27900365

2016
dbSNP: rs120074135
rs120074135
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. 26984608

2016
dbSNP: rs120074135
rs120074135
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs120074135
rs120074135
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR The adult form of Niemann-Pick disease type C. 17003072

2007
dbSNP: rs120074135
rs120074135
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: rs120074135
rs120074135
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		T 0.800 CausalMutation CLINVAR