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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 12 | 89492071 | stop gained | C/A;G;T | snv | 8.5E-06; 2.7E-04 |
|
0.700 | 1.000 | 3 | 2014 | 2014 | ||||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.700 | 1.000 | 2 | 2002 | 2016 | |||||||
|
0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 |
|
0.700 | 1.000 | 2 | 1997 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
0.700 | 1.000 | 2 | 2005 | 2016 | |||||||
|
0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 2 | 1997 | 2019 | ||||||||
|
0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 94007707 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.882 | 0.160 | 8 | 43199504 | missense variant | G/A | snv | 4.1E-03 | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.120 | 16 | 56506191 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 8 | 43173740 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.200 | 3 | 121781772 | stop gained | G/A | snv | 6.8E-05 | 1.1E-04 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
0.710 | 1.000 | 1 | 2008 | 2010 | |||||||||
|
0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 16000517 | stop gained | G/T | snv | 2.8E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
8 | 43197027 | splice region variant | -/A | delins | 4.0E-06; 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 1 | 197427454 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 10 | 84203123 | splice region variant | G/A;C;T | snv | 2.9E-03; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 1 | 94005490 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 94042790 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 94060712 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1 | 197435404 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 |