Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833645
rs386833645
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. 10191107

1999

dbSNP: rs386833645
rs386833645
T 0.700 GeneticVariation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998

dbSNP: rs386833645
rs386833645
T 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses: research update. 11073228

2000

dbSNP: rs386833645
rs386833645
T 0.700 GeneticVariation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660

2007

dbSNP: rs386833645
rs386833645
T 0.700 GeneticVariation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996

2001