Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778232650
rs778232650
TPP1
T 0.700 GeneticVariation CLINVAR Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 11589013

2001
dbSNP: rs778232650
rs778232650
TPP1
T 0.700 GeneticVariation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999