Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833727
rs386833727
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
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
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998

dbSNP: rs386833727
rs386833727
0.800 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997

dbSNP: rs386833727
rs386833727
G 0.800 GeneticVariation CLINVAR