Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833695
rs386833695
CLN3
0.800 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833695
rs386833695
CLN3
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: rs386833695
rs386833695
CLN3
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: rs386833695
rs386833695
CLN3
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
dbSNP: rs386833695
rs386833695
CLN3
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR A yeast model for the study of Batten disease. 9618513

1998
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009