Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
A 0.700 CausalMutation CLINVAR Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. 21364701

2011
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
A 0.700 CausalMutation CLINVAR Sequence variation in mitochondrial complex I genes: mutation or polymorphism? 15972314

2006
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
A 0.700 CausalMutation CLINVAR The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. 16849371

2006
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
A 0.700 CausalMutation CLINVAR Mutations of the mitochondrial ND1 gene as a cause of MELAS. 15466014

2004