Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199476117
rs199476117
ND3
0.846 0.107 MT 10158 missense variant snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 2 2004 2010
dbSNP: rs267606890
rs267606890
ND3
0.878 0.107 MT 10191 missense variant snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 2 2001 2010
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 0 2007 2009
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 0 1993 2007
dbSNP: rs199476117
rs199476117
ND3
0.846 0.107 MT 10158 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 2 2004 2010
dbSNP: rs267606890
rs267606890
ND3
0.878 0.107 MT 10191 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 2 2001 2010
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 0
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 0
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 0
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 0
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 0
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 0
dbSNP: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 0