Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015