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 | 13 | 32379735 | intron variant | T/G | snv | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.200 | 13 | 32363211 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 18 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.200 | 13 | 32339244 | stop gained | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2014 | ||||
|
3 | 0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2016 | ||||
|
11 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2015 | ||||
|
12 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2016 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340203 | stop gained | AGTT/-;AGTTAGTT | delins | 7.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2012 | ||||
|
11 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.700 | 1.000 | 6 | 2007 | 2014 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340219 | stop gained | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2002 | 2016 | ||||
|
3 | 0.925 | 0.200 | 13 | 32354877 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2017 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340035 | stop gained | -/A | delins | 0.700 | 1.000 | 6 | 2001 | 2012 | |||||
|
3 | 0.851 | 0.200 | 13 | 32337513 | stop gained | T/G | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2014 | ||||
|
10 | 0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2014 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340392 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2012 | ||||
|
3 | 0.925 | 0.200 | 13 | 32363269 | stop gained | T/A | snv | 0.700 | 1.000 | 5 | 1997 | 2012 | |||||
|
2 | 0.925 | 0.200 | 13 | 32379513 | stop gained | C/A;G | snv | 0.700 | 1.000 | 5 | 1997 | 2017 | |||||
|
6 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 5 | 2003 | 2014 | |||||
|
11 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 2000 | 2014 | |||
|
1 | 1.000 | 13 | 32379431 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2015 | |||||
|
11 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2013 | ||||
|
3 | 0.925 | 0.200 | 13 | 32333167 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2011 | ||||
|
2 | 0.925 | 0.200 | 13 | 32326563 | stop gained | G/A;C | snv | 0.700 | 1.000 | 4 | 1996 | 2016 | |||||
|
11 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2011 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340479 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||
|
7 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 1997 | 2014 |