Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202189057
rs202189057
TPP1
T 0.700 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs202189057
rs202189057
TPP1
T 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810

2013
dbSNP: rs202189057
rs202189057
TPP1
T 0.700 GeneticVariation CLINVAR Genotype analysis of the TPP1 gene in the 'classical' CLN2 patients showed the presence of the known mutation p.Arg208X and the novel mutations p.Leu104X, p.Asp276Val, and p.Ala453Val. 19793312

2009
dbSNP: rs202189057
rs202189057
TPP1
T 0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116

2008
dbSNP: rs202189057
rs202189057
TPP1
T 0.700 CausalMutation CLINVAR