Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833720
rs386833720
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

dbSNP: rs386833720
rs386833720
A 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010

dbSNP: rs386833720
rs386833720
A 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997