Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs154774633
rs154774633
0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341

2011

dbSNP: rs154774634
rs154774634
0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341

2011

dbSNP: rs154774635
rs154774635
0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341

2011

dbSNP: rs154774636
rs154774636
0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341

2011

dbSNP: rs154774638
rs154774638
0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341

2011

dbSNP: rs154774641
rs154774641
0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341

2011

dbSNP: rs387907043
rs387907043
0.010 GeneticVariation BEFREE Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease. 25905915

2015

dbSNP: rs63750391
rs63750391
0.010 GeneticVariation BEFREE The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient. 21212640

2011

dbSNP: rs765758974
rs765758974
0.010 GeneticVariation BEFREE Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. 29120254

2018