Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
PPT1
0.020 GeneticVariation BEFREE Here, we provide the initial characterization of the novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated. 25205113

2015
dbSNP: rs137852700
rs137852700
PPT1
0.020 GeneticVariation BEFREE Both CLN1 patients had a juvenile-onset phenotype with mutation studies of one patient demonstrating the known mutation p.Arg151X and a novel mutation in intron 3, c.363-3T>G. 19793312

2009