MTOR, mechanistic target of rapamycin kinase, 2475
N. diseases: 765; N. variants: 17
Source: BEFREE ×
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 | 0.080 | 1 | 11114338 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 11274060 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 11274042 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv |
|
0.810 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Neoplasms | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Neoplasms | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 11195977 | 3 prime UTR variant | T/C | snv | 9.0E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 11195977 | 3 prime UTR variant | T/C | snv | 9.0E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 |