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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.070 | 1.000 | 7 | 2009 | 2017 | |||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.060 | 1.000 | 6 | 2008 | 2014 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 10 | 133536297 | intron variant | T/C | snv | 0.73 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
22 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.020 | 0.500 | 2 | 2009 | 2013 | ||||
|
7 | 0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2018 | |||||
|
16 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 10 | 102824175 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 7 | 127890817 | intron variant | A/G | snv | 1.7E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
11 | 0.763 | 0.080 | 18 | 48926786 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 |