Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. 27366019

2016
dbSNP: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. 27549128

2016
dbSNP: rs753768576
rs753768576
NPC1
A 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: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. 22326530

2012
dbSNP: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687

2002