Variant: rs1057517518 

    present in Gene: PEX1;GATAD1
    present in Chromosome: 7
    Position on Chromosome: 92491503
    Alleles of this Variant: C/T

rs1057517518 in PEX1;GATAD1 gene and Infantile Refsum Disease (disorder) PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

rs1057517518 in PEX1;GATAD1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.