Variant: rs104894632 

    present in Gene: MILR1;POLG2
    present in Chromosome: 17
    Position on Chromosome: 64477929
    Alleles of this Variant: C/T

rs104894632 in MILR1;POLG2 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 PMID 16685652 2006 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.