Variant: rs483352923 

    present in Gene: REEP2
    present in Chromosome: 5
    Position on Chromosome: 138441386
    Alleles of this Variant: T/A

rs483352923 in REEP2 gene and SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE PMID 24388663 2014 Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.