Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908202
rs121908202
A 0.700 CausalMutation 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

dbSNP: rs121908202
rs121908202
A 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs121908202
rs121908202
A 0.700 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010

dbSNP: rs121908202
rs121908202
A 0.700 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999