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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
20 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2005 | 2016 | |||
|
3 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.807 | 0.120 | 14 | 90404386 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 2445412 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.120 | 1 | 162060117 | intergenic variant | A/T | snv | 0.48 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2015 | ||||
|
7 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 2588804 | missense variant | C/A;G;T | snv | 7.2E-05; 7.5E-03; 2.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 3 | 38560146 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1997 | 2014 | |||||
|
10 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2014 | ||||
|
5 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.120 | 3 | 38581182 | missense variant | C/A;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 38560221 | stop gained | C/A;T | snv | 3.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 2 | 47161744 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 | 0.700 | 1.000 | 15 | 1997 | 2015 | |||
|
3 | 0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 11 | 1999 | 2014 | ||||
|
2 | 0.925 | 0.120 | 11 | 2662080 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||
|
10 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 11 | 2570670 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 3 | 38633058 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.120 | 3 | 38551085 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |