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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 10 | 60325579 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 121451045 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.240 | 12 | 21841177 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.080 | 11 | 27693337 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.160 | 11 | 27724217 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 3 | 178539774 | intron variant | G/A | snv | 0.23 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
12 | 0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.040 | 7 | 117130530 | stop gained | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
21 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
4 | 0.851 | 0.120 | 21 | 25982462 | missense variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.120 | 11 | 121522975 | missense variant | G/A;T | snv | 7.2E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.080 | 6 | 41909351 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 21 | 44250887 | missense variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 13 | 100157297 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.160 | 10 | 32019912 | missense variant | T/C | snv | 0.700 | 0 |