Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
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
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

dbSNP: rs148412181
rs148412181
0.010 GeneticVariation BEFREE We report two novel mutations in a patient without epilepsy to date and describe the features of two siblings homozygous for the V181M (c.541G>A) mutation, associated with the most severe INCL phenotype. 22387303

2012

dbSNP: rs137852696
rs137852696
0.010 GeneticVariation BEFREE Two of the mutations (delPhe84 and insCys45) cause a classical INCL phenotype and two (Thr75Pro and Leu219Gln) result in a late onset disease phenotype. 11520175

2001

dbSNP: rs137852698
rs137852698
0.010 GeneticVariation BEFREE Two of the mutations (delPhe84 and insCys45) cause a classical INCL phenotype and two (Thr75Pro and Leu219Gln) result in a late onset disease phenotype. 11520175

2001