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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.160 | 2 | 27309934 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 16 | 2006 | 2019 | ||||||||
|
1.000 | 0.160 | 2 | 27309945 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 16 | 2006 | 2019 | ||||||||
|
1.000 | 0.160 | 2 | 27309958 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 16 | 2006 | 2019 | ||||||||
|
1.000 | 0.160 | 2 | 27311899 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 16 | 2006 | 2019 | ||||||||
|
1.000 | 0.160 | 2 | 27312213 | splice donor variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 |