ALK, ALK receptor tyrosine kinase, 238
N. diseases: 519; N. variants: 41
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
Neoplasms | 0.080 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
Neoplasms | 0.080 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
Neoplasms | 0.040 | 1.000 | 4 | 2017 | 2020 | ||||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
Neoplasms | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
2 | 29220897 | 3 prime UTR variant | T/C | snv | 3.8E-03 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 2 | 29220756 | missense variant | T/A;G | snv | 4.0E-06 | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 29193487 | missense variant | C/G | snv | 4.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
2 | 29209910 | intron variant | T/C | snv | 3.9E-02 | 9.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 29220759 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 |