Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1349528345
rs1349528345
PPT1
CT 0.700 GeneticVariation CLINVAR A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. 23857568

2013
dbSNP: rs1349528345
rs1349528345
PPT1
CT 0.700 GeneticVariation CLINVAR The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062

2000