Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 3 | 46370768 | intron variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 46371068 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 46371068 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |