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: rs1352878283
rs1352878283
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2016 2016
dbSNP: rs145100473
rs145100473
1.000 0.040 22 50524071 missense variant C/T snv 8.3E-04 7.6E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 0
dbSNP: rs149977726
rs149977726
1.000 22 50527265 missense variant T/C snv 1.2E-05 9.8E-05
Mitochondrial DNA Depletion Syndrome 1
0.800 1.000 2 1999 2002
dbSNP: rs28937598
rs28937598
1.000 0.200 22 50523901 missense variant G/A snv 1.2E-05 7.0E-06
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 1.000 8 1999 2015
dbSNP: rs28937868
rs28937868
1.000 0.200 22 50524014 missense variant C/T snv
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 0
dbSNP: rs370130010
rs370130010
1.000 0.040 22 50524078 missense variant G/A;T snv 4.8E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 1.000 3 2013 2015
dbSNP: rs375954523
rs375954523
1.000 0.040 22 50524054 missense variant G/A;T snv 8.0E-05; 4.0E-06
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 0
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 1.000 8 1999 2015
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.800 1.000 3 2013 2015
dbSNP: rs759452074
rs759452074
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 1.000 8 1999 2015
dbSNP: rs759452074
rs759452074
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2016 2016
dbSNP: rs80358232
rs80358232
1.000 0.200 22 50523738 missense variant G/A;T snv 4.0E-06
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 0
dbSNP: rs8139305
rs8139305
1.000 0.040 22 50523636 missense variant G/A;T snv 2.4E-03; 4.0E-06
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 0