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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 72347711 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 15 | 72345540 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 11 | 687941 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 1992 | 1992 | |||||||
|
0.925 | 0.160 | 15 | 72353130 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 72346235 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.160 | 15 | 72356555 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.160 | 15 | 72344139 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 10 | 129957300 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 15 | 72346598 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 8 | 95052198 | missense variant | C/G | snv | 8.0E-06 |
|
0.700 | 0 |