Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555468632
rs1555468632
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: rs1555468632
rs1555468632
A 0.700 CausalMutation CLINVAR Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) 10332042

1999

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

1995