rs119455956, TPP1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 CausalMutation CLINVAR
Late-Infantile Neuronal Ceroid Lipfuscinosis
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
0.010 GeneticVariation BEFREE Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity. 11462245 2001