Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894064
rs104894064
G 0.700 CausalMutation CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397

2004

dbSNP: rs104894064
rs104894064
G 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 10861296

2000

dbSNP: rs587779411
rs587779411
G 0.700 GeneticVariation CLINVAR

dbSNP: rs104894060
rs104894060
T 0.700 CausalMutation CLINVAR Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737

2010

dbSNP: rs104894060
rs104894060
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs104894060
rs104894060
T 0.700 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

dbSNP: rs104894060
rs104894060
T 0.700 CausalMutation CLINVAR Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724

2004

dbSNP: rs144495588
rs144495588
T 0.700 CausalMutation CLINVAR