Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912638
rs121912638
NDUFS8 ; MIR4691 ; MIR7113
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.700 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
dbSNP: rs121912638
rs121912638
NDUFS8 ; MIR4691 ; MIR7113
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.700 GeneticVariation UNIPROT Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508

2004
dbSNP: rs121912638
rs121912638
NDUFS8 ; MIR4691 ; MIR7113
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.700 GeneticVariation UNIPROT The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998