Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204553
rs786204553
TPP1
A 0.700 GeneticVariation CLINVAR A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. 26032578

2015
dbSNP: rs786204553
rs786204553
TPP1
G 0.700 GeneticVariation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs786204553
rs786204553
TPP1
T 0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs786204553
rs786204553
TPP1
T 0.700 GeneticVariation CLINVAR A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. 20820830

2011