| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.790 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2014 | 2016 | ||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2014 | ||||||||
|
0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2006 | 2016 | |||||||||
|
0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2006 | 2016 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 5 | 68293310 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
7 | 55143387 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||||
|
7 | 55154050 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
0.925 | 0.120 | 5 | 68295269 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 7 | 55143386 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.240 | 3 | 179199156 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.240 | 3 | 179199158 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.240 | 3 | 179199157 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |