Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833659
rs386833659
A 0.700 CausalMutation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660

2007

dbSNP: rs386833659
rs386833659
A 0.700 CausalMutation CLINVAR New mutations in the neuronal ceroid lipofuscinosis genes. 11589012

2001

dbSNP: rs386833659
rs386833659
A 0.700 CausalMutation CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943

2000