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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 | ||||
|
7 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 2005 | 2015 | ||||
|
8 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 0.700 | 1.000 | 11 | 2001 | 2012 | |||||
|
8 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 0.700 | 1.000 | 10 | 2006 | 2013 | ||||
|
6 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 2001 | 2014 | ||||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2001 | 2014 | |||||
|
6 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 2001 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 0.700 | 1.000 | 9 | 2003 | 2013 | |||||
|
6 | 0.827 | 0.240 | 11 | 112087916 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2015 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
4 | 0.882 | 0.200 | 11 | 112087868 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 2001 | 2012 | |||||
|
5 | 0.851 | 0.200 | 11 | 112086908 | start lost | A/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 2001 | 2012 | ||||
|
5 | 0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2006 | 2015 | |||
|
4 | 0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 2001 | 2007 | |||||
|
4 | 0.882 | 0.200 | 11 | 112087933 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 2002 | 2010 | |||||
|
4 | 0.851 | 0.240 | 11 | 112088866 | splice acceptor variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2010 | ||||
|
1 | 1.000 | 0.040 | 14 | 65102315 | missense variant | C/A | snv | 8.9E-05 | 7.0E-05 | 0.700 | 1.000 | 6 | 2011 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 6 | 2007 | 2016 | |||||
|
6 | 0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2006 | 2014 | ||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2014 | |||||
|
5 | 0.851 | 0.200 | 11 | 112089002 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2012 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 |