Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759075595
rs759075595
NPC1
A 0.700 CausalMutation 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: rs759075595
rs759075595
NPC1
A 0.700 CausalMutation CLINVAR Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. 23433426

2013
dbSNP: rs759075595
rs759075595
NPC1
A 0.700 CausalMutation CLINVAR Molecular analysis of 30 Niemann-Pick type C patients from Spain. 20718790

2011
dbSNP: rs759075595
rs759075595
NPC1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. 19223215

2009
dbSNP: rs759075595
rs759075595
NPC1
A 0.700 CausalMutation CLINVAR NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 10480349

1999