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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.760 | 1.000 | 6 | 2004 | 2012 | ||||||||
|
0.882 | 0.200 | 2 | 47476424 | missense variant | T/G | snv |
|
0.730 | 0.833 | 3 | 1999 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins |
|
0.720 | 0.500 | 2 | 2006 | 2009 | |||||||||
|
0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 |
|
0.720 | 1.000 | 2 | 2001 | 2019 | ||||||||
|
0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv |
|
0.720 | 0.947 | 2 | 1995 | 2014 | |||||||||
|
0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv |
|
0.720 | 1.000 | 2 | 1975 | 2017 | |||||||||
|
0.790 | 0.280 | 7 | 5992018 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.240 | 7 | 5987504 | stop gained | G/A | snv | 7.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2019 | ||||||||
|
0.925 | 0.160 | 3 | 36996645 | missense variant | A/C | snv |
|
0.710 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.160 | 3 | 37040291 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.160 | 2 | 47476513 | stop gained | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 3 | 37007002 | stop gained | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.160 | 3 | 36996702 | missense variant | G/A | snv |
|
0.710 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 3 | 37008904 | missense variant | A/G | snv |
|
0.710 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.160 | 2 | 47475100 | stop gained | C/G | snv |
|
0.710 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.160 | 3 | 37047652 | missense variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.160 | 3 | 37020411 | missense variant | A/C | snv |
|
0.710 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2004 | 2005 | ||||||||
|
0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 1996 | 2013 | ||||||||
|
0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.160 | 2 | 47416375 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 0.160 | 2 | 47429878 | frameshift variant | -/CGAC | delins |
|
0.710 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 1999 | 2014 | ||||||||
|
0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 1 | 1994 | 2012 |