Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746085696
rs746085696
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
G 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013