| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 10 | 121515289 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.790 | 0.080 | 6 | 138801103 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 10 | 121498525 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
10 | 121488005 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
10 | 121515283 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.790 | 0.080 | 19 | 21569009 | intron variant | G/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 16 | 78042662 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
10 | 121519989 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 11 | 106436144 | intergenic variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 4 | 105143597 | upstream gene variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 6 | 88856018 | intron variant | A/G | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 12 | 29680396 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.080 | 6 | 24651092 | intron variant | C/G | snv | 0.42 | 0.46 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 10 | 121515263 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.080 | 3 | 115931601 | intron variant | T/C | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |