Variant: rs121918657 

    present in Gene: SURF1
    present in Chromosome: 9
    Position on Chromosome: 133352446
    Alleles of this Variant: G/A

rs121918657 in SURF1 gene and Leigh Disease PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 10636738 1999 Leigh syndrome transmitted by uniparental disomy of chromosome 9.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.