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 |
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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
rs749838192
|
|
|
22 |
50524395 |
frameshift variant |
-/TGAGTCACTGCTGCATGCT
|
ins
|
5.8E-04;
4.2E-06
|
8.9E-04
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs150742660
|
0.925 |
0.080 |
22 |
50523735 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
< 0.001 |
1 |
2007 |
2007 |
rs12148
|
|
|
22 |
50523779 |
synonymous variant |
T/A;G
|
snv
|
0.64
|
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs140523
|
|
|
22 |
50524353 |
missense variant |
C/A;G;T
|
snv
|
1.7E-05;
0.64;
1.7E-05
|
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs2782
|
|
|
22 |
50523425 |
3 prime UTR variant |
T/C
|
snv
|
0.64
|
0.63
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
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 |
|
|
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 |
|
|
rs131804
|
|
|
22 |
50526433 |
missense variant |
G/A
|
snv
|
0.61
|
0.51
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
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
|
|
Gastrointestinal dysmotility
|
|
0.700 |
|
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 |
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 |
rs150742660
|
0.925 |
0.080 |
22 |
50523735 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.010 |
< 0.001 |
1 |
2007 |
2007 |
rs11479
|
0.925 |
0.080 |
22 |
50525807 |
stop gained |
G/A;C;T
|
snv
|
0.13;
1.3E-05;
4.3E-06
|
|
Malignant neoplasm of gastrointestinal tract
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
2014 |
2014 |
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 |
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 |