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 | ||||||||
|
2 | 1.000 | 0.160 | 12 | 25225624 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 112450391 | missense variant | T/C;G | snv | 0.700 | 1.000 | 10 | 2003 | 2016 | |||||
|
2 | 0.925 | 0.160 | 12 | 112477652 | missense variant | T/G | snv | 0.700 | 1.000 | 7 | 2002 | 2014 | |||||
|
2 | 0.925 | 0.160 | 12 | 112450386 | missense variant | A/T | snv | 0.700 | 1.000 | 6 | 2004 | 2013 | |||||
|
1 | 0.925 | 0.160 | 2 | 39012319 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||
|
2 | 0.925 | 0.160 | 12 | 112450508 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv | 0.800 | 1.000 | 0 | 2006 | 2011 | |||||
|
2 | 0.925 | 0.160 | 12 | 25245372 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 2006 | 2011 | |||||
|
3 | 0.882 | 0.160 | 12 | 112488444 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2004 | 2013 | |||||
|
3 | 0.882 | 0.160 | 12 | 25245320 | missense variant | T/A;C | snv | 0.800 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv | 0.800 | 1.000 | 0 | 2006 | 2011 | |||||
|
4 | 0.851 | 0.280 | 12 | 25225709 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 2006 | 2014 | |||||
|
5 | 0.827 | 0.160 | 3 | 12604182 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv | 0.700 | 1.000 | 7 | 2003 | 2015 | |||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2012 | ||||
|
5 | 0.776 | 0.280 | 12 | 112450361 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 28 | 2002 | 2016 | |||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2006 | 2014 | |||||
|
15 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2011 | ||||
|
12 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 2009 | 2013 | ||||
|
18 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 0.700 | 1.000 | 8 | 2003 | 2009 | |||||
|
12 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
16 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 2003 | 2016 | |||||
|
6 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.700 | 1.000 | 9 | 2006 | 2015 |