| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 19 | 11116882 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
2 | 0.925 | 0.080 | 22 | 41903099 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 1 | 55058549 | missense variant | C/T | snv | 6.0E-04 | 2.8E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.851 | 0.160 | 1 | 55058129 | missense variant | A/G | snv | 1.2E-03 | 4.8E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.882 | 0.080 | 19 | 11116153 | missense variant | G/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.040 | 1 | 55057404 | missense variant | G/A;T | snv | 4.0E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.851 | 0.080 | 19 | 11116936 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
9 | 0.776 | 0.160 | 1 | 55058630 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.882 | 0.080 | 19 | 11120144 | missense variant | G/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 1 | 55052764 | stop gained | A/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 19 | 11113348 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.080 | 19 | 11116874 | missense variant | G/A;T | snv | 3.2E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.925 | 0.160 | 16 | 16203457 | missense variant | G/C;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 19 | 11102771 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 19 | 11113630 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 1 | 55058617 | missense variant | G/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 |