Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516267
rs1057516267
CLN3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516335
rs1057516335
CLN3
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516343
rs1057516343
CLN3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516343
rs1057516343
CLN3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516677
rs1057516677
CLN3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517215
rs1057517215
CLN3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517287
rs1057517287
CLN3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517350
rs1057517350
CLN3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation BEFREE We have analysed the intracellular processing and localization of two mutants, 461-677del, which is present in 85% of CLN3 alleles and causes the classical JNCL, and E295K [corrected], which is a rare missense mutation associated with an atypical form of JNCL. 10332042

1999
dbSNP: rs121434286
rs121434286
CLN3
A 0.820 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121434286
rs121434286
CLN3
A 0.820 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: rs121434286
rs121434286
CLN3
0.820 GeneticVariation BEFREE Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs121434286
rs121434286
CLN3
T 0.820 CausalMutation CLINVAR

dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs121434286
rs121434286
CLN3
0.820 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: rs121434286
rs121434286
CLN3
0.820 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012
dbSNP: rs1418997146
rs1418997146
CLN3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs142456044
rs142456044
CLN3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1478660606
rs1478660606
CLN3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555467473
rs1555467473
CLN3
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555468374
rs1555468374
CLN3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555468632
rs1555468632
CLN3
A 0.700 CausalMutation CLINVAR Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 7553855

1995
dbSNP: rs1555468632
rs1555468632
CLN3
A 0.700 CausalMutation CLINVAR Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) 10332042

1999
dbSNP: rs1555468632
rs1555468632
CLN3
A 0.700 CausalMutation CLINVAR A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 17947292

2008