Source: ALL
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 | 1 | 12002014 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 1 | 12002033 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.080 | 1 | 11992689 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12004858 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 11997319 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12005770 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 1 | 12004835 | missense variant | G/A | snv | 2.1E-03 | 2.5E-03 | 0.700 | 1.000 | 5 | 2004 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 12002071 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2004 | 2011 | |||||
|
9 | 0.776 | 0.080 | 1 | 11992660 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2011 | ||||
|
3 | 0.882 | 0.080 | 1 | 11992606 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2011 | ||||
|
3 | 0.882 | 0.080 | 1 | 12001423 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 11999030 | missense variant | C/G;T | snv | 0.700 | 1.000 | 5 | 2004 | 2011 | |||||
|
2 | 0.925 | 0.080 | 1 | 11992584 | missense variant | G/A;T | snv | 3.6E-05 | 0.700 | 1.000 | 5 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 11998823 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.080 | 1 | 12011510 | missense variant | G/C | snv | 0.800 | 1.000 | 6 | 2004 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 12007126 | missense variant | G/A;C;T | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 11997301 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 11997348 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 11999009 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 11999025 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2016 | |||||
|
7 | 0.790 | 0.160 | 1 | 12009641 | missense variant | C/T | snv | 2.5E-04 | 2.8E-04 | 0.800 | 1.000 | 12 | 2008 | 2019 |