Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
A 0.710 CausalMutation CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475

2014

dbSNP: rs137852700
rs137852700
0.710 GeneticVariation BEFREE Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. 16720047

2006

dbSNP: rs137852700
rs137852700
A 0.710 CausalMutation CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237

1998

dbSNP: rs137852700
rs137852700
A 0.710 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998