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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 155461298 | intron variant | G/A | snv | 0.72 | 0.070 | 1.000 | 7 | 2004 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 155461450 | intron variant | T/C | snv | 0.73 | 0.060 | 1.000 | 6 | 2004 | 2010 | ||||
|
4 | 0.882 | 0.040 | 2 | 171855970 | intron variant | T/C | snv | 0.81 | 0.77 | 0.040 | 1.000 | 4 | 2005 | 2010 | |||
|
3 | 0.882 | 0.040 | 2 | 171787719 | intron variant | T/C | snv | 0.81 | 0.040 | 1.000 | 4 | 2005 | 2010 | ||||
|
6 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 0.040 | 0.750 | 4 | 2011 | 2017 | ||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2005 | 2012 | ||||
|
3 | 0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 | 0.820 | 0.667 | 3 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 112156322 | intron variant | A/C | snv | 7.2E-02 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
5 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2009 | 2019 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 184902089 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 30923631 | intron variant | G/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 114721064 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 147183313 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 126633758 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 1 | 114498310 | intron variant | C/T | snv | 0.58 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 206524916 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 12 | 71944848 | intron variant | A/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 5 | 140902846 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |