Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833740
rs386833740
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs386833740
rs386833740
GT 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs386833740
rs386833740
GT 0.700 CausalMutation CLINVAR Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). 22013180

2011

dbSNP: rs386833740
rs386833740
GT 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997