Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782623477
rs782623477
A 0.700 CausalMutation CLINVAR A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 24462369

2014

dbSNP: rs782623477
rs782623477
A 0.700 CausalMutation CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769

2013

dbSNP: rs782623477
rs782623477
A 0.700 CausalMutation CLINVAR High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. 18583168

2009

dbSNP: rs782623477
rs782623477
A 0.700 CausalMutation CLINVAR SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. 14557577

2003

dbSNP: rs782623477
rs782623477
A 0.700 CausalMutation CLINVAR Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000

dbSNP: rs782623477
rs782623477
A 0.700 CausalMutation CLINVAR SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. 10558868

1999