Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908292
rs121908292
T 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013

dbSNP: rs121908292
rs121908292
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908292
rs121908292
T 0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116

2008