MPV17, mitochondrial inner membrane protein MPV17, 4358
N. diseases: 134; N. variants: 31
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 |