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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
4 | 0.925 | 0.080 | 20 | 32762102 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
5 | 0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
4 | 0.882 | 0.080 | 10 | 94291660 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
2 | 0.925 | 0.080 | 20 | 56382507 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
7 | 0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 17 | 42313598 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.160 | 9 | 117715764 | 3 prime UTR variant | C/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.200 | 1 | 207337251 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 |