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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.900 | 1.000 | 11 | 2008 | 2017 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.810 | 0.750 | 4 | 2011 | 2019 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.810 | 1.000 | 3 | 2010 | 2019 | ||||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.030 | 0.667 | 3 | 2006 | 2012 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.720 | 1.000 | 3 | 2010 | 2013 | ||||
|
7 | 0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2015 | 2020 | |||||
|
7 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.710 | 1.000 | 2 | 2010 | 2011 | ||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
4 | 0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
5 | 0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
10 | 0.776 | 0.160 | 4 | 122633552 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2017 | 2019 |