Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942104
rs28942104
NPC1
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs28942104
rs28942104
NPC1
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. 22676771

2012
dbSNP: rs28942104
rs28942104
NPC1
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs28942104
rs28942104
NPC1
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation 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: rs28942104
rs28942104
NPC1
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 9211849

1997