| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 5 | 112767213 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 5 | 112828939 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 5 | 112827976 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.120 | 5 | 112774082 | intron variant | G/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 5 | 112843972 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 5 | 112723897 | intron variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 5 | 112840073 | synonymous variant | G/A | snv | 0.65 | 0.59 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 5 | 112841474 | synonymous variant | G/A | snv | 0.65 | 0.60 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 5 | 112819294 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 5 | 112815496 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.200 | 5 | 112840500 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.200 | 5 | 112840377 | missense variant | G/C;T | snv | 8.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.200 | 5 | 112821942 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 5 | 112838644 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.120 | 5 | 112767344 | stop gained | G/T | snv | 2.4E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
1.000 | 0.120 | 5 | 112837671 | stop gained | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 5 | 112767269 | stop gained | G/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.120 | 5 | 112840786 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 |
|
0.030 | 1.000 | 3 | 2003 | 2008 |