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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 0.800 | 1.000 | 17 | 2001 | 2017 | ||||
|
6 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 2001 | 2014 | ||||
|
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 | |||||
|
4 | 0.882 | 0.200 | 11 | 112087933 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 2002 | 2010 | |||||
|
4 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||
|
4 | 0.851 | 0.240 | 11 | 112094832 | stop gained | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2012 | ||||
|
7 | 0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2008 | ||||
|
2 | 0.925 | 0.080 | 2 | 96265224 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||
|
4 | 0.851 | 0.240 | 11 | 112087899 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.200 | 11 | 112094815 | stop gained | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.200 | 11 | 112089011 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.080 | 1 | 17033075 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 11 | 112086921 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 112094805 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96265306 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96254078 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 96254050 | stop gained | G/A | snv | 0.700 | 0 |