Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833701
rs386833701
A 0.700 GeneticVariation CLINVAR Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. 14699076

2004

dbSNP: rs386833701
rs386833701
A 0.700 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