Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 0.700 | 1.000 | 8 | 1995 | 2015 | |||||
|
5 | 0.882 | 0.160 | 2 | 47476399 | stop gained | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 8 | 1997 | 2012 | ||||
|
6 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 0.700 | 1.000 | 8 | 1996 | 2014 | |||||
|
6 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2008 | ||||
|
5 | 0.882 | 0.160 | 2 | 47414368 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1999 | 2017 | |||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47476513 | stop gained | C/G;T | snv | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||
|
4 | 0.925 | 0.240 | 2 | 47410235 | stop gained | C/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||
|
7 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2014 | |||||
|
3 | 1.000 | 0.160 | 2 | 47475233 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 5 | 1996 | 2017 | |||||
|
3 | 1.000 | 0.160 | 2 | 47482779 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1996 | 2008 | ||||
|
3 | 1.000 | 0.160 | 2 | 47478336 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2004 | 2017 | |||||
|
6 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2010 | ||||
|
2 | 1.000 | 0.160 | 2 | 47482800 | stop gained | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2008 | ||||
|
3 | 1.000 | 0.160 | 2 | 47412522 | stop gained | C/G;T | snv | 0.700 | 1.000 | 3 | 1995 | 2006 | |||||
|
4 | 0.925 | 0.160 | 2 | 47412483 | stop gained | C/G;T | snv | 0.700 | 1.000 | 3 | 2003 | 2013 | |||||
|
3 | 1.000 | 0.160 | 2 | 47445556 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1995 | 2005 | |||||
|
2 | 2 | 47414416 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
2 | 2 | 47466710 | stop gained | T/A;C | snv | 3.1E-04 | 0.700 | 1.000 | 2 | 2005 | 2014 | ||||||
|
3 | 1.000 | 0.160 | 2 | 47475100 | stop gained | C/G | snv | 0.700 | 1.000 | 2 | 2005 | 2015 | |||||
|
2 | 1.000 | 0.160 | 2 | 47410337 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2013 | ||||
|
4 | 0.925 | 0.160 | 2 | 47480707 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 1998 | 2011 | |||||
|
3 | 1.000 | 0.160 | 2 | 47403372 | stop gained | C/G;T | snv | 4.3E-06; 4.3E-06 | 0.700 | 1.000 | 2 | 2003 | 2011 | ||||
|
2 | 1.000 | 0.160 | 2 | 47403219 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2005 | 2010 | |||||
|
4 | 0.925 | 0.240 | 2 | 47471041 | stop gained | G/A;T | snv | 0.700 | 1.000 | 2 | 1998 | 2005 |