| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 180650140 | intron variant | T/C | snv | 5.0E-04 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 180647254 | intron variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2015 | ||||||||
|
5 | 13840968 | stop gained | G/A;C | snv | 2.8E-05; 8.0E-06 |
|
0.700 | 1.000 | 4 | 2009 | 2016 | ||||||||||
|
1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 3 | 2006 | 2015 | |||||||
|
1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | |||||||
|
1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||
|
1.000 | 0.160 | 17 | 74309345 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
5 | 55231653 | stop gained | G/A | snv | 5.3E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||||
|
1.000 | 0.120 | 6 | 116628175 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
5 | 13841895 | stop gained | G/A;C;T | snv | 2.2E-05; 8.0E-04; 4.3E-06 |
|
0.700 | 1.000 | 2 | 2006 | 2009 | ||||||||||
|
1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2006 | 2011 | |||||||
|
7 | 21702773 | stop gained | C/A;T | snv | 3.6E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
3 | 180642072 | stop gained | G/A;T | snv | 7.6E-05; 8.1E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||||
|
17 | 80086207 | stop gained | C/G;T | snv | 8.8E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
0.882 | 0.160 | 5 | 13865675 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
5 | 13830675 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
5 | 13792038 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
6 | 43645215 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 21 | 32609853 | stop gained | G/A | snv | 7.6E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 21 | 32602299 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 16 | 84159744 | stop gained | C/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
6 | 116627775 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |