Variant: rs121908192 

    present in Gene: NOXO1;GFER
    present in Chromosome: 16
    Position on Chromosome: 1985991
    Alleles of this Variant: G/A

rs121908192 in NOXO1;GFER gene and Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay PMID 20593814 2010 Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy .

PMID 19409522 2009 The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.