Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894483
rs104894483
CLN6
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 11791207

2002