Gene: TPP1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750428882
rs750428882
TPP1
A 0.700 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
dbSNP: rs750428882
rs750428882
TPP1
A 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: rs750428882
rs750428882
TPP1
A 0.700 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs750428882
rs750428882
TPP1
A 0.700 GeneticVariation CLINVAR Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967

2009
dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554901898
rs1554901898
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554902217
rs1554902217
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1564855725
rs1564855725
TPP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs553522118
rs553522118
TPP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs56144125
rs56144125
TPP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs796053439
rs796053439
TPP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs864309505
rs864309505
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878855331
rs878855331
TPP1
G 0.700 GeneticVariation CLINVAR