Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138867882
rs138867882
NDUFS3 ; KBTBD4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211

2005
dbSNP: rs121913659
rs121913659
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913659
rs121913659
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 26345448

2015
dbSNP: rs121913659
rs121913659
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999
dbSNP: rs121908985
rs121908985
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs118161496
rs118161496
NUBPL
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs104893899
rs104893899
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104893898
rs104893898
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR