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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 29220734 | missense variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.882 | 0.160 | X | 47566722 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.882 | 0.160 | X | 47566721 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
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 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.480 | 7 | 140753333 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |