Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. 16023078

2005

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. 14764913

2004

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003