FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial, 10667
N. diseases: 89; N. variants: 27
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 | 5545261 | missense variant | T/C | snv | 1.2E-05 |
|
0.800 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
1.000 | 6 | 5545261 | missense variant | T/C | snv | 1.2E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 6 | 5613266 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 5369100 | missense variant | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 6 | 5736510 | intron variant | G/C | snv | 0.48 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 5736979 | intron variant | G/C | snv | 0.62 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 6 | 5545179 | splice acceptor variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.160 | 6 | 5368994 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 6 | 5368994 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.120 | 6 | 5545248 | missense variant | G/A;T | snv | 7.6E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 6 | 5545248 | missense variant | G/A;T | snv | 7.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 6 | 5545248 | missense variant | G/A;T | snv | 7.6E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 6 | 5545248 | missense variant | G/A;T | snv | 7.6E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 6 | 5545200 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 5600205 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 5741203 | intron variant | G/A | snv | 0.21 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 5736889 | intron variant | C/T | snv | 0.60 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 6 | 5369031 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 6 | 5613185 | missense variant | C/T | snv | 1.4E-04 | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 6 | 5771328 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 6 | 5404596 | missense variant | C/T | snv | 2.6E-04 | 2.7E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 6 | 5613185 | missense variant | C/T | snv | 1.4E-04 | 1.0E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 6 | 5368973 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 6 | 5368823 | missense variant | C/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 6 | 5368762 | missense variant | C/G | snv |
|
0.700 | 0 |