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: rs145100473
rs145100473
0.923 0.036 22 50524071 missense variant C/T snp 8.3E-04 1.3E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.800 2 2013 2016
dbSNP: rs28937598
rs28937598
1.000 0.179 22 50523901 missense variant G/A snp 1.2E-05 3.2E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 2 2000 2016
dbSNP: rs121913036
rs121913036
1.000 0.143 22 50526638 missense variant T/G snp 5.3E-05
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
0.800 1 1993 1999
dbSNP: rs149977726
rs149977726
1.000 0.143 22 50527265 missense variant T/C snp 1.2E-05 1.3E-04
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
0.800 1 1993 2000
dbSNP: rs28937868
rs28937868
1.000 0.179 22 50524014 missense variant C/T snp
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 1 2004 2004
dbSNP: rs80358232
rs80358232
1.000 0.179 22 50523738 missense variant G/A,T snp 4.0E-06
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 1 1999 1999
dbSNP: rs74315511
rs74315511
0.923 0.214 22 50523994 missense variant C/T snp 8.0E-05 1.6E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.800 0 1999 2013
dbSNP: rs74315511
rs74315511
0.923 0.214 22 50523994 missense variant C/T snp 8.0E-05 1.6E-04
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 0 1999 2013
dbSNP: rs370130010
rs370130010
1.000 0.036 22 50524078 missense variant G/A,T snp 4.8E-05 6.4E-05; 3.2E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 1 2015 2015
dbSNP: rs375954523
rs375954523
1.000 0.036 22 50524054 missense variant G/A,T snp 8.0E-05; 4.0E-06 9.6E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 1 2015 2015
dbSNP: rs8139305
rs8139305
1.000 0.036 22 50523636 missense variant G/A,T snp 2.4E-03; 4.0E-06 7.6E-03
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 1 2013 2013
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 0
dbSNP: rs759452074
rs759452074
0.769 0.179 22 50523835 missense variant C/A,T snp 8.0E-06; 3.2E-05
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 0