Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203929
rs118203929
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
0.800 GeneticVariation UNIPROT

dbSNP: rs267606689
rs267606689
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
0.800 GeneticVariation UNIPROT

dbSNP: rs757043077
rs757043077
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
0.800 GeneticVariation UNIPROT Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 21607760

2012

dbSNP: rs757043077
rs757043077
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
0.800 GeneticVariation UNIPROT Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. 19542079

2010

dbSNP: rs757043077
rs757043077
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
0.800 GeneticVariation UNIPROT Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 18940309

2008