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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
5 | 0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
9 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.040 | 16 | 88502423 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
9 | 0.776 | 0.200 | 7 | 73702147 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.120 | 16 | 57358821 | missense variant | A/C;T | snv | 0.92 | 0.94 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 94536311 | intron variant | T/C | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 104817351 | missense variant | C/G;T | snv | 3.5E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.160 | MT | 5178 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 6 | 31271690 | stop gained | C/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
18 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.080 | 1.000 | 8 | 1997 | 2011 | |||
|
2 | 1.000 | 0.040 | 18 | 75203596 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 |