| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.880 | 1.000 | 0 | 2011 | 2019 | |||||||||
|
0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 8 | 2002 | 2014 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.933 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 2918030 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 0 | 2013 | 2014 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.750 | 1.000 | 12 | 2002 | 2018 | ||||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.720 | 0.500 | 0 | 2015 | 2020 | ||||||||
|
0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv |
|
0.700 | 1.000 | 9 | 2002 | 2013 | |||||||||
|
0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 9 | 2002 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 140781593 | missense variant | T/C | snv |
|
0.700 | 1.000 | 8 | 2002 | 2013 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 8 | 2002 | 2013 | ||||||||
|
1.000 | 0.080 | 18 | 20955181 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 7 | 55174782 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | 10 | 49478437 | stop gained | G/A | snv | 7.2E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 11 | 111764842 | missense variant | C/T | snv | 6.5E-03 | 7.0E-03 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.280 | 7 | 140801550 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140801537 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 |