Variant: rs1470797555 

    present in Gene: EPG5
    present in Chromosome: 18
    Position on Chromosome: 45951239
    Alleles of this Variant: C/T

rs1470797555 in EPG5 gene and Absent corpus callosum cataract immunodeficiency PMID 23222957 2013 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

PMID 23674064 2013 Role of Epg5 in selective neurodegeneration and Vici syndrome.