Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376213990
rs376213990
NPC1
T 0.700 GeneticVariation CLINVAR A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient. 26937389

2015
dbSNP: rs376213990
rs376213990
NPC1
T 0.700 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: rs376213990
rs376213990
NPC1
T 0.700 GeneticVariation CLINVAR Molecular analysis of 30 Niemann-Pick type C patients from Spain. 20718790

2011
dbSNP: rs376213990
rs376213990
NPC1
T 0.700 GeneticVariation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs376213990
rs376213990
NPC1
T 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