Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122806
rs398122806
0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2012

dbSNP: rs782024654
rs782024654
0.700 GeneticVariation UNIPROT SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012

dbSNP: rs121918658
rs121918658
0.700 GeneticVariation UNIPROT Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 10647889

2000

dbSNP: rs28933402
rs28933402
0.700 GeneticVariation UNIPROT Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000

dbSNP: rs782033035
rs782033035
0.700 GeneticVariation UNIPROT