Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757043077
rs757043077
0.700 GeneticVariation UNIPROT Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 21607760

2012

dbSNP: rs267606689
rs267606689
0.700 GeneticVariation UNIPROT Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. 19542079

2010