Disease: Niemann-Pick Disease, Type C1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044431
rs797044431
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		C 0.700 GeneticVariation CLINVAR Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. 11182931 2000
dbSNP: rs797044431
rs797044431
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		C 0.700 GeneticVariation CLINVAR NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 10480349 1999