Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.700 | 1.000 | 7 | 2009 | 2019 | |||||||
|
0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
11 | 27658063 | stop gained | C/A | snv |
|
0.700 | 1.000 | 6 | 2001 | 2018 | |||||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.050 | 1.000 | 5 | 2006 | 2017 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.050 | 1.000 | 5 | 2006 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.030 | 0.667 | 3 | 2008 | 2014 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.030 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.030 | 0.667 | 3 | 2008 | 2014 | ||||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.030 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
11 | 27706555 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||||
|
0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 27672694 | intron variant | G/A;C | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.020 | 1.000 | 2 | 2017 | 2018 |