MTO1, mitochondrial tRNA translation optimization 1, 25821
N. diseases: 48; N. variants: 14
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 | 6 | 73482061 | missense variant | G/A | snv | 5.6E-05 | 4.2E-05 |
|
0.800 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
1.000 | 6 | 73482209 | missense variant | G/A | snv | 1.7E-04 | 2.7E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
1.000 | 6 | 73482208 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
6 | 73497766 | missense variant | T/A;G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 6 | 73482035 | splice region variant | T/C;G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 6 | 73479960 | missense variant | A/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 6 | 73497801 | frameshift variant | C/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 6 | 73479844 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 6 | 73497836 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 6 | 73480777 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
6 | 73500589 | missense variant | C/A | snv | 4.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 73482229 | missense variant | C/T | snv | 2.0E-05 | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 73482214 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.120 | 6 | 73482214 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 6 | 73482214 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 6 | 73482463 | missense variant | G/A | snv | 9.6E-05 | 9.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.120 | 6 | 73482463 | missense variant | G/A | snv | 9.6E-05 | 9.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.120 | 6 | 73482463 | missense variant | G/A | snv | 9.6E-05 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 |