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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
12 | 0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 19 | 11113444 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
20 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 207325673 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 2 | 231115305 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.827 | 0.080 | 20 | 63444747 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.120 | 1 | 39967632 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | X | 154399803 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.080 | 8 | 132174294 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.925 | 0.360 | 8 | 85473779 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
2 | 1.000 | 0.080 | X | 111142119 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | Y | 1642868 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.200 | X | 100296654 | missense variant | C/T | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.200 | X | 119837956 | missense variant | C/T | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 3 | 70959372 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.280 | 3 | 142556117 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |