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 | 0.080 | 12 | 5494466 | synonymous variant | G/A;T | snv | 0.49; 3.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 5 | 1411297 | synonymous variant | T/C | snv | 0.23 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.080 | 14 | 73192799 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 21 | 25891761 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 14 | 73198111 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.851 | 0.080 | 14 | 73219144 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.851 | 0.080 | 14 | 73219156 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 12 | 5495458 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 19 | 44908729 | missense variant | G/A;C;T | snv | 6.3E-06; 6.3E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
4 | 0.882 | 0.080 | 7 | 80672000 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 6 | 41159841 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 15 | 32058469 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 21 | 37358422 | intron variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 6 | 41182853 | intergenic variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.030 | 1.000 | 3 | 2003 | 2006 | |||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2007 | 2016 | ||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.120 | 17 | 63483037 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |