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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 12 | 50992810 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 12 | 50992291 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.080 | 12 | 50999214 | missense variant | C/A;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | X | 55014830 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 22 | 37066133 | missense variant | C/T | snv | 8.0E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 146018204 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.742 | 0.440 | 11 | 34461361 | synonymous variant | C/T | snv | 0.25 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 22 | 37096657 | missense variant | T/C | snv | 5.8E-06 | 0.700 | 1.000 | 12 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 37089581 | missense variant | G/T | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 37089737 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.080 | 22 | 37098439 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.080 | 22 | 37075251 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 37066223 | missense variant | G/C | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37070584 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 37070563 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37066196 | missense variant | G/A | snv | 2.0E-05 | 4.2E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | |||
|
3 | 0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 37086372 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37084775 | stop gained | G/T | snv | 5.6E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37084339 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 37070557 | stop gained | G/A | snv | 5.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37098545 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 149177980 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 37070539 | frameshift variant | CC/-;C;CCC | delins | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 37066942 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 |