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
Chronic progressive external ophthalmoplegia
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2007 2007
dbSNP: rs121918055
rs121918055
0.925 0.200 15 89326965 missense variant C/T snv
Chronic progressive external ophthalmoplegia
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1463467386
rs1463467386
1.000 0.200 15 89327059 missense variant T/C;G snv 4.0E-06 1.4E-05
Chronic progressive external ophthalmoplegia
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008