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 | 1 | 2011 | 2019 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.977 | 1 | 2010 | 2020 | ||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.740 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2016 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;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 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | 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 | |||||||||
|
0.807 | 0.240 | 8 | 38414788 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 1 | 11157174 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.160 | 2 | 15942195 | missense variant | C/T | 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 | |||||||||
|
0.776 | 0.320 | 3 | 179199066 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |