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: rs749838192
rs749838192 		22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1064792891
rs1064792891 		1.000 22 50525819 inframe deletion AATGGC/- del
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1060499535
rs1060499535 		1.000 22 50526317 frameshift variant C/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009
dbSNP: rs1064792881
rs1064792881 		1.000 22 50526393 inframe insertion -/CCGTCGTCCAGCGCCGCG delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2002 2002
dbSNP: rs1064792885
rs1064792885 		1.000 22 50525787 frameshift variant -/A delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009
dbSNP: rs1064792887
rs1064792887 		1.000 22 50527210 frameshift variant G/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2002 2002
dbSNP: rs1064792888
rs1064792888 		1.000 22 50526720 frameshift variant G/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792889
rs1064792889 		1.000 22 50525908 frameshift variant C/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792890
rs1064792890 		1.000 22 50525873 frameshift variant CTGAGCGCGGGGCCGTCCCG/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792892
rs1064792892 		1.000 22 50526386 frameshift variant AGGGCCGAGC/TT delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1556486029
rs1556486029 		1.000 22 50525867 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs1556486467
rs1556486467 		1.000 22 50526089 frameshift variant -/A delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs201685922
rs201685922 		1.000 22 50526479 splice region variant CGGG/- delins 1.4E-02 1.3E-02
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
dbSNP: rs786205098
rs786205098 		1.000 22 50526103 inframe deletion CCAGCG/- delins 1.2E-05 2.1E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs1471478620
rs1471478620 		1.000 22 50525910 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs1556486107
rs1556486107 		1.000 22 50525898 frameshift variant -/C delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs1556488264
rs1556488264 		0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs1556488264
rs1556488264 		0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs1556488264
rs1556488264 		0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556488264
rs1556488264 		0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs786205097
rs786205097 		1.000 22 50525808 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs28937598
rs28937598 		1.000 0.200 22 50523901 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: rs759452074
rs759452074 		0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 5 1999 2013