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 | 0.120 | 11 | 2776006 | stop gained | C/A;T | snv |
|
0.710 | 1.000 | 12 | 2004 | 2016 | |||||||||
|
0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv |
|
0.710 | 1.000 | 11 | 2004 | 2016 | |||||||||
|
0.807 | 0.120 | 11 | 2768917 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 1.000 | 9 | 2001 | 2014 | |||||||
|
0.807 | 0.240 | 11 | 2768881 | stop gained | C/G;T | snv | 1.0E-04 |
|
0.720 | 1.000 | 7 | 1999 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 2778023 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 1999 | 2014 | |||||||||
|
0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 |
|
0.710 | 0.800 | 5 | 2003 | 2012 | ||||||||
|
0.925 | 0.120 | 11 | 2570663 | stop gained | C/A;G;T | snv | 8.0E-06; 9.4E-04 |
|
0.700 | 1.000 | 4 | 2005 | 2015 | ||||||||
|
1.000 | 0.120 | 7 | 150951689 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 4 | 2001 | 2014 | |||||||||
|
1.000 | 0.120 | 11 | 2585254 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
1.000 | 0.120 | 11 | 2445251 | stop gained | C/G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
0.925 | 0.120 | 7 | 150958290 | stop gained | C/A | snv |
|
0.700 | 1.000 | 2 | 2005 | 2006 | |||||||||
|
1.000 | 0.120 | 7 | 150947791 | stop gained | C/A;G;T | snv | 6.8E-05; 7.6E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 7 | 150958430 | stop gained | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.120 | 7 | 150947453 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 11 | 2572062 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 11 | 2587616 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150950983 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150951004 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150951065 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150959583 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 11 | 2572899 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 11 | 2445192 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 92099838 | stop gained | G/A | snv |
|
0.700 | 0 |