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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 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 | ||||||||||||
|
1.000 | 0.040 | 22 | 20242778 | missense variant | G/A;C | snv | 3.5E-04; 8.1E-06 |
|
0.700 | 1.000 | 3 | 2004 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 20242546 | missense variant | C/T | snv | 2.4E-05 | 7.0E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2017 | |||||||
|
1.000 | 0.040 | 22 | 20242454 | missense variant | G/A;T | snv | 1.6E-05; 1.2E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2017 | ||||||||
|
1.000 | 0.040 | Y | 1029445 | intergenic variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 1 | 2008 | 2019 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.760 | 1.000 | 1 | 2008 | 2017 | |||||||
|
0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 |
|
0.860 | 0.857 | 1 | 2008 | 2019 | ||||||||
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.800 | 1.000 | 6 | 2009 | 2014 | |||||||||
|
1.000 | 0.040 | 15 | 84037709 | missense variant | C/T | snv | 0.22 | 0.19 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | |||||||
|
1.000 | 0.040 | 6 | 27281152 | downstream gene variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2009 | 2011 | ||||||||
|
0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 |
|
0.900 | 0.875 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 235886699 | intron variant | A/C | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 27176104 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 5 | 102523613 | regulatory region variant | C/T | snv | 0.66 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 27310241 | missense variant | C/A | snv | 0.13 | 0.18 |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1.000 | 0.040 | 2 | 57995793 | intron variant | T/C | snv | 0.70 |
|
0.820 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.807 | 0.320 | 6 | 32205216 | intron variant | C/T | snv | 0.11 |
|
0.810 | 0.667 | 2 | 2009 | 2014 |