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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 12 | 25209907 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 14 | 2003 | 2009 | |||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2012 | ||||
|
5 | 0.827 | 0.160 | 3 | 12604182 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
16 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 2009 | 2013 | ||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | |||
|
14 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 112450386 | missense variant | A/T | snv | 0.700 | 1.000 | 6 | 2004 | 2013 | |||||
|
13 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.700 | 1.000 | 9 | 2006 | 2015 | |||||
|
6 | 0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv | 0.700 | 1.000 | 7 | 2003 | 2015 | |||||
|
17 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 2003 | 2016 | |||||
|
16 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2011 | ||||
|
16 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 1986 | 1991 | |||||
|
5 | 0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv | 0.800 | 1.000 | 7 | 2006 | 2011 | |||||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 2006 | 2014 | |||||
|
4 | 0.851 | 0.280 | 12 | 25225709 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 2006 | 2011 | |||||
|
2 | 0.925 | 0.160 | 12 | 112450508 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.800 | 1.000 | 7 | 2006 | 2014 | |||||
|
8 | 0.776 | 0.280 | 12 | 112450361 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 28 | 2002 | 2016 | |||||
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.160 | 12 | 112488444 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2004 | 2013 | |||||
|
27 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 |