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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 5 | 132618182 | stop gained | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 4 | 2009 | 2017 | |||||||
|
1.000 | 0.200 | 5 | 132594950 | stop gained | C/G;T | snv | 8.0E-05; 5.6E-05 |
|
0.700 | 1.000 | 4 | 2008 | 2016 | ||||||||
|
5 | 132640768 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 4 | 2000 | 2015 | ||||||||||
|
5 | 132642212 | stop gained | C/T | snv |
|
0.700 | 1.000 | 4 | 2007 | 2014 | |||||||||||
|
5 | 132642195 | stop gained | C/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2000 | 2015 | ||||||||||
|
1.000 | 0.200 | 5 | 132594950 | stop gained | C/G;T | snv | 8.0E-05; 5.6E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
5 | 132579363 | stop gained | C/A;T | snv | 4.0E-06; 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
5 | 132588749 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.200 | 5 | 132618182 | stop gained | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.200 | 5 | 132588728 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.200 | 5 | 132588728 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 132587637 | stop gained | C/A;T | snv | 4.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
5 | 132638158 | stop gained | C/T | snv | 2.4E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
5 | 132603989 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
5 | 132604850 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132591404 | stop gained | A/G;T | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||||
|
5 | 132595689 | stop gained | G/C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
5 | 132595617 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||||
|
5 | 132588848 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132591977 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132603319 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132608666 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132609289 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132616016 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 132592006 | stop gained | C/T | snv |
|
0.700 | 0 |