Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833719
rs386833719
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: rs386833719
rs386833719
CLN3
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012
dbSNP: rs386833727
rs386833727
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: rs386833727
rs386833727
CLN3
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012
dbSNP: rs386833731
rs386833731
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: rs386833731
rs386833731
CLN3
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012
dbSNP: rs386833744
rs386833744
CLN3
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012
dbSNP: rs386833744
rs386833744
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 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
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: rs386833694
rs386833694
CLN3
A 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 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 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. 12189165

2002
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein. 10924275

2000
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 CausalMutation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR A yeast model for the study of Batten disease. 9618513

1998
dbSNP: rs386833694
rs386833694
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
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 A yeast model for the study of Batten disease. 9618513

1998
dbSNP: rs386833714
rs386833714
CLN3
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs386833719
rs386833719
CLN3
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs386833727
rs386833727
CLN3
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs386833731
rs386833731
CLN3
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998