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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
10 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.200 | 9 | 22124473 | intron variant | C/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 20 | 46128885 | missense variant | C/G;T | snv | 2.2E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 184378252 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.280 | 1 | 156899255 | intron variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 10 | 17031136 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
9 | 0.790 | 0.240 | 9 | 22124505 | intron variant | A/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.925 | 0.160 | 11 | 61813163 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 |