SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 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
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 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)
Eye Diseases 0.800 1.000 3 2013 2015
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: rs28937868
rs28937868
1.000 0.200 22 50524014 missense variant C/T snv
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 0
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 0
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 8 1999 2015
dbSNP: rs121913036
rs121913036
1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 5 1999 2013
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)
Eye Diseases 0.700 1.000 3 2013 2015
dbSNP: rs121913040
rs121913040
1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2011
dbSNP: rs121913041
rs121913041
1.000 22 50527629 missense variant C/G;T snv 4.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2009
dbSNP: rs797044455
rs797044455
1.000 22 50526142 splice acceptor variant C/G;T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 1999 2000
dbSNP: rs1060499532
rs1060499532
1.000 22 50526338 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1060499533
rs1060499533
1.000 22 50526293 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2003 2003
dbSNP: rs1060499534
rs1060499534
1.000 22 50526246 missense variant C/T snv 7.1E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1060499535
rs1060499535
1.000 22 50526317 frameshift variant C/- delins
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2009 2009
dbSNP: rs1064792865
rs1064792865
1.000 22 50527716 start lost A/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2000 2000
dbSNP: rs1064792866
rs1064792866
1.000 22 50527704 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792867
rs1064792867
1.000 22 50527611 missense variant A/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792868
rs1064792868
1.000 22 50527223 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2005 2005
dbSNP: rs1064792869
rs1064792869
1.000 22 50527215 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792870
rs1064792870
1.000 22 50527170 missense variant T/G snv 7.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792871
rs1064792871
1.000 22 50526657 missense variant G/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792872
rs1064792872
1.000 22 50526611 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792873
rs1064792873
1.000 22 50526141 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2005 2005