Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833663
rs386833663
PPT1
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: rs386833665
rs386833665
PPT1
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: rs386833666
rs386833666
PPT1
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: rs386833669
rs386833669
PPT1
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: rs386833671
rs386833671
PPT1
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: rs148412181
rs148412181
PPT1
A 0.800 GeneticVariation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
dbSNP: rs148412181
rs148412181
PPT1
T 0.800 CausalMutation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
dbSNP: rs386833631
rs386833631
PPT1
T 0.800 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs386833631
rs386833631
PPT1
T 0.800 GeneticVariation CLINVAR Structural basis of neuronal ceroid lipofuscinosis 1. 19793631

2010
dbSNP: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852695
rs137852695
PPT1
A 0.800 CausalMutation CLINVAR Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852696
rs137852696
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852696
rs137852696
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852697
rs137852697
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852697
rs137852697
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852698
rs137852698
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852698
rs137852698
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852701
rs137852701
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852701
rs137852701
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852702
rs137852702
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852702
rs137852702
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs148412181
rs148412181
PPT1
A 0.800 GeneticVariation CLINVAR Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. 19302939

2009
dbSNP: rs148412181
rs148412181
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs148412181
rs148412181
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009