Variant: rs1057516575 

    present in Gene: PPT1
    present in Chromosome: 1
    Position on Chromosome: 40074160
    Alleles of this Variant: -/A

rs1057516575 in PPT1 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 1 PMID 10781062 2000 The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.