| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 5 | 112774082 | intron variant | G/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 5 | 112723897 | intron variant | A/G | snv | 0.52 |
|
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 | ||||||||
|
0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 |
|
0.710 | 1.000 | 16 | 1992 | 2009 | ||||||||
|
0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv |
|
0.710 | 1.000 | 12 | 1992 | 2014 | |||||||||
|
0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 10 | 1992 | 2016 | |||||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 1992 | 2011 | |||||||||
|
0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1999 | 2009 | |||||||||
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.730 | 1.000 | 3 | 2000 | 2016 | |||||||||
|
0.925 | 0.120 | 5 | 112775693 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1998 | 2006 | |||||||||
|
0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 |
|
0.720 | 1.000 | 2 | 2000 | 2012 | ||||||||
|
0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2000 | 2012 | ||||||||
|
1.000 | 0.120 | 5 | 112840425 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
0.925 | 0.120 | 5 | 112819026 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2000 | 2005 | |||||||||
|
0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
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 | 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 | ||||||||
|
1.000 | 0.120 | 5 | 112767269 | stop gained | G/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 112839999 | stop gained | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 5 | 112839048 | stop gained | C/G;T | snv |
|
0.700 | 0 |