| 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 | 0.040 | 22 | 20242258 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 |
|
0.710 | 1.000 | 0 | 2017 | 2017 | ||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 154031259 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 22 | 20241938 | missense variant | G/A | snv | 3.0E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 22 | 20242004 | missense variant | G/A | snv | 4.5E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 22 | 20242003 | missense variant | C/G;T | snv | 7.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 48387961 | splice donor variant | T/C | snv | 4.3E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 6 | 33444529 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 1 | 2008 | 2019 | |||||||||
|
0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 |
|
0.860 | 0.857 | 1 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 167933841 | intron variant | G/T | snv | 0.20 |
|
0.850 | 0.800 | 1 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 44821583 | intron variant | A/C;G | snv |
|
0.840 | 0.750 | 1 | 2011 | 2017 | |||||||||
|
0.925 | 0.040 | 4 | 117725752 | intergenic variant | A/G | snv | 0.25 |
|
0.840 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 28259826 | missense variant | C/A;T | snv | 0.12 |
|
0.830 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv |
|
0.830 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
1.000 | 0.040 | 22 | 49824963 | intron variant | A/C | snv | 0.36 |
|
0.820 | 0.667 | 1 | 2010 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 37365485 | intron variant | C/A;T | snv |
|
0.820 | 0.667 | 1 | 2013 | 2016 | |||||||||
|
1.000 | 0.040 | 7 | 1964786 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 8 | 38173827 | intron variant | A/G | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 18 | 55527730 | intron variant | T/C | snv | 2.2E-02 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 210362681 | intron variant | C/T | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 244227262 | intergenic variant | C/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 73359226 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 |