Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148412181
rs148412181
T 0.800 CausalMutation CLINVAR The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells. 28878621

2017

dbSNP: rs137852695
rs137852695
A 0.800 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs137852696
rs137852696
G 0.800 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013

dbSNP: rs148412181
rs148412181
T 0.800 GeneticVariation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs148412181
rs148412181
T 0.800 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs137852695
rs137852695
A 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: rs137852695
rs137852695
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: rs137852696
rs137852696
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: rs137852697
rs137852697
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: rs137852698
rs137852698
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: rs137852701
rs137852701
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: rs137852702
rs137852702
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
T 0.800 CausalMutation CLINVAR Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series. 22387303

2012

dbSNP: rs148412181
rs148412181
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: rs386833626
rs386833626
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: rs386833627
rs386833627
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: rs386833631
rs386833631
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: rs386833631
rs386833631
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: rs386833642
rs386833642
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: rs386833647
rs386833647
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: rs386833650
rs386833650
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: rs386833650
rs386833650
C 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: rs386833657
rs386833657
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: rs386833658
rs386833658
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: rs386833661
rs386833661
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