rs113994095
|
0.701 |
0.360 |
15 |
89327201 |
missense variant |
C/T
|
snv
|
5.1E-04
|
6.7E-04
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs11546842
|
0.925 |
0.200 |
15 |
89320890 |
missense variant |
G/A
|
snv
|
2.4E-05
|
1.1E-04
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918044
|
0.807 |
0.240 |
15 |
89329055 |
missense variant |
A/C
|
snv
|
5.7E-05
|
3.5E-05
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918054
|
0.807 |
0.240 |
15 |
89323460 |
missense variant |
C/G;T
|
snv
|
6.9E-04;
4.0E-06
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs144500145
|
0.807 |
0.240 |
15 |
89321780 |
missense variant |
G/A
|
snv
|
4.8E-05
|
6.3E-05
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201732356
|
0.807 |
0.240 |
15 |
89318737 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113994099
|
0.827 |
0.240 |
15 |
89320883 |
missense variant |
T/C
|
snv
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2002 |
2008 |
rs121918051
|
1.000 |
0.160 |
15 |
89320878 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2002 |
2008 |
rs121918055
|
0.925 |
0.200 |
15 |
89326965 |
missense variant |
C/T
|
snv
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2002 |
2008 |
rs41549716
|
0.882 |
0.200 |
15 |
89321842 |
missense variant |
T/C
|
snv
|
6.6E-03
|
7.0E-03
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2002 |
2008 |
rs776031396
|
1.000 |
0.160 |
15 |
89317492 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2002 |
2008 |
rs113994098
|
0.742 |
0.320 |
15 |
89321792 |
missense variant |
C/T
|
snv
|
1.5E-04
|
2.7E-04
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2011 |
rs1555453538
|
0.807 |
0.280 |
15 |
89326678 |
frameshift variant |
A/-
|
delins
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2010 |
2017 |