Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555273604
rs1555273604
GTGGATCCGGGC 0.700 CausalMutation CLINVAR

dbSNP: rs1555273881
rs1555273881
T 0.700 CausalMutation CLINVAR

dbSNP: rs546989392
rs546989392
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013