Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007

2013
dbSNP: rs121908202
rs121908202
TPP1
A 0.800 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: rs119455954
rs119455954
TPP1
T 0.800 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: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation 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: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121908200
rs121908200
TPP1
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121908200
rs121908200
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121908202
rs121908202
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121908202
rs121908202
TPP1
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121908202
rs121908202
TPP1
A 0.800 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: rs121908204
rs121908204
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121908204
rs121908204
TPP1
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121908204
rs121908204
TPP1
T 0.800 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: rs121908205
rs121908205
TPP1
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121908205
rs121908205
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs28940573
rs28940573
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs28940573
rs28940573
TPP1
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908200
rs121908200
TPP1
0.800 GeneticVariation UNIPROT Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908202
rs121908202
TPP1
0.800 GeneticVariation UNIPROT Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908202
rs121908202
TPP1
A 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010