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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.710 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 3 | 2012 | 2016 | |||||||||
|
0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 1 | 162775707 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 162778617 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 10 | 121518810 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |