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: rs113994099
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
dbSNP: rs121918051
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
dbSNP: rs121918055
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
dbSNP: rs41549716
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
dbSNP: rs776031396
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
dbSNP: rs113994098
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
dbSNP: rs1555453538
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
dbSNP: rs113994095
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
dbSNP: rs11546842
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
dbSNP: rs121918044
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
dbSNP: rs121918054
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
dbSNP: rs144500145
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
dbSNP: rs201732356
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