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: rs137852768
rs137852768
0.923 0.071 5 251338 missense variant G/A snp 4.1E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
0.800 0
dbSNP: rs137852768
rs137852768
0.923 0.071 5 251338 missense variant G/A snp 4.1E-06
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
0.800 0
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 1 2000 2000
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 1 2000 2000
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1 2000 2000
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 1 2000 2000
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 1 2000 2000
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 1 2000 2000
dbSNP: rs137852767
rs137852767
0.784 0.107 5 251011 missense variant C/T snp
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 1 2000 2000
dbSNP: rs387906780
rs387906780
0.923 0.036 5 251439 missense variant C/T snp 1.2E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
0.700 1 2010 2010
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 1 1995 1995
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 1 1995 1995
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 1 1995 1995
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1 1995 1995
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 1 1995 1995
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 1 1995 1995
dbSNP: rs9809219
rs9809219
0.784 0.107 5 251100 missense variant C/T snp 4.0E-05
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 1 1995 1995