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 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.080 | 7 | 97117880 | missense variant | T/C | snv | 2.0E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
37 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.882 | 0.080 | 1 | 161356832 | stop gained | C/T | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
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 | |||
|
3 | 0.882 | 0.080 | 1 | 161356685 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 14 | 92932783 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 14 | 92931642 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 11 | 112087944 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.200 | 11 | 112094815 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.080 | 11 | 112093192 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.040 | 2 | 25161623 | missense variant | C/G;T | snv | 6.7E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.120 | 2 | 25161643 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
12 | 0.742 | 0.120 | 11 | 112086941 | missense variant | G/A | snv | 7.5E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.040 | 1 | 161356764 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |