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 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 9 | 2000 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 2006 | 2014 | |||||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 5 | 2013 | 2017 | ||||||||
|
0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 |
|
0.710 | 1.000 | 5 | 2001 | 2020 | ||||||||
|
0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 |
|
0.700 | 1.000 | 4 | 2012 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
19 | 55154035 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||||
|
0.790 | 0.120 | 6 | 7562753 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2006 | 2015 | |||||||||
|
2 | 178621517 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||||
|
0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2009 | |||||||||
|
1.000 | 0.040 | 2 | 178604049 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2015 | |||||||||
|
0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 1999 | 2000 | |||||||||
|
0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
2 | 178559769 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 119651752 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
6 | 7565448 | stop gained | C/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
10 | 74072792 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 |