Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455954
rs119455954
TPP1
T 0.700 CausalMutation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876

2015
dbSNP: rs119455954
rs119455954
TPP1
T 0.700 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999
dbSNP: rs119455954
rs119455954
TPP1
T 0.700 CausalMutation CLINVAR Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. 9788728

1998