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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 12 | 53971491 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 5 | 132205182 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 18 | 37634043 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 16 | 78624496 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.240 | 1 | 67356694 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.160 | 6 | 160732495 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.200 | 11 | 36503743 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
7 | 0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.280 | 9 | 6240084 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.160 | 2 | 136248628 | intergenic variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.010 | < 0.001 | 1 | 2011 | 2011 |