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: rs121913661
rs121913661
0.923 0.036 11 67610510 missense variant G/A snp 3.2E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 1 2001 2016
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1 1999 1999
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 1 1999 1999
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 1 1999 1999
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 1 1999 1999
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 1 1999 1999
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 1 1999 1999
dbSNP: rs121913659
rs121913659
0.769 0.107 11 67612225 missense variant C/T snp 1.2E-05
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 1 1999 1999
dbSNP: rs121913660
rs121913660
0.923 0.036 11 67611511 missense variant C/T snp 3.2E-05 3.2E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 1 1999 1999
dbSNP: rs121913660
rs121913660
0.923 0.036 11 67611511 missense variant C/T snp 3.2E-05 3.2E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 1999 1999
dbSNP: rs121913661
rs121913661
0.923 0.036 11 67610510 missense variant G/A snp 3.2E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2001 2001