| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 16 | 2004 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 16 | 2002 | 2015 | ||||||||
|
0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 14 | 2002 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 13 | 2006 | 2018 | |||||||||
|
0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 13 | 2005 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv |
|
0.700 | 1.000 | 13 | 2002 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 12 | 2008 | 2018 | |||||||
|
0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv |
|
0.700 | 1.000 | 12 | 1995 | 2018 | |||||||||
|
0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins |
|
0.700 | 1.000 | 10 | 2004 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 9 | 2003 | 2012 | |||||||
|
0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 9 | 2001 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 9 | 2004 | 2015 | |||||||||
|
0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 8 | 2006 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 7 | 2004 | 2015 | |||||||||
|
0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 7 | 2005 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2009 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 6 | 1995 | 2013 | |||||||||
|
0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 |
|
0.700 | 1.000 | 6 | 2006 | 2014 | ||||||||
|
0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 |
|
0.700 | 1.000 | 6 | 2002 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 17033077 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2013 | |||||||
|
0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2001 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 17044873 | frameshift variant | G/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2015 | ||||||||
|
1 | 17022615 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2005 | 2012 | |||||||||||
|
1 | 17022660 | frameshift variant | A/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2005 | 2015 | ||||||||||
|
0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv |
|
0.700 | 1.000 | 4 | 2009 | 2014 |