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 |
rs74315511
|
0.925 |
0.240 |
22 |
50523994 |
missense variant |
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
MYOPIA 6 (disorder)
|
Eye Diseases
|
0.800 |
1.000 |
3 |
2013 |
2015 |
rs74315511
|
0.925 |
0.240 |
22 |
50523994 |
missense variant |
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Stridor
|
Pathological Conditions, Signs and Symptoms
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs74315511
|
0.925 |
0.240 |
22 |
50523994 |
missense variant |
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Neuropathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs74315511
|
0.925 |
0.240 |
22 |
50523994 |
missense variant |
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Cardiomyopathies
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs74315510
|
0.925 |
0.240 |
22 |
50524255 |
stop gained |
G/A
|
snv
|
8.4E-05
|
3.5E-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 |
|
0 |
|
|
rs74315510
|
0.925 |
0.240 |
22 |
50524255 |
stop gained |
G/A
|
snv
|
8.4E-05
|
3.5E-05
|
MYOPIA 6 (disorder)
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs74315511
|
0.925 |
0.240 |
22 |
50523994 |
missense variant |
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Severe global developmental delay
|
|
0.700 |
|
0 |
|
|
rs74315511
|
0.925 |
0.240 |
22 |
50523994 |
missense variant |
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
rs759452074
|
0.925 |
0.200 |
22 |
50523835 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
3.2E-05
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs121908508
|
1.000 |
0.200 |
22 |
50524305 |
stop gained |
C/A;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
|
0.700 |
|
0 |
|
|
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 |
|
|
rs74315512
|
1.000 |
0.200 |
22 |
50524144 |
stop gained |
G/A
|
snv
|
1.6E-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 |
|
0 |
|
|
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 |
|
|
rs1352878283
|
1.000 |
0.120 |
22 |
50523639 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1556488264
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion |
AGC/-
|
delins
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
|
0.700 |
|
0 |
|
|
rs1556488264
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion |
AGC/-
|
delins
|
|
|
Peripheral Neuropathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556488264
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion |
AGC/-
|
delins
|
|
|
Extraocular Muscle Paresis
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556488264
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion |
AGC/-
|
delins
|
|
|
Gastrointestinal dysmotility
|
|
0.700 |
|
0 |
|
|
rs761665644
|
0.925 |
0.120 |
22 |
50527606 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Mitochondrial DNA Depletion Syndrome 1
|
|
0.700 |
|
0 |
|
|
rs761665644
|
0.925 |
0.120 |
22 |
50527606 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Extraocular Muscle Paresis
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs761665644
|
0.925 |
0.120 |
22 |
50527606 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Gastrointestinal dysmotility
|
|
0.700 |
|
0 |
|
|
rs761665644
|
0.925 |
0.120 |
22 |
50527606 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Peripheral Neuropathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|