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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.020 | 1.000 | 2 | 2001 | 2005 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.020 | 1.000 | 2 | 2001 | 2005 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | ||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156937289 | missense variant | T/C | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.040 | 1.000 | 4 | 2000 | 2012 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.040 | 1.000 | 4 | 2000 | 2012 | |||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.020 | 1.000 | 2 | 2004 | 2005 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.790 | 0.200 | 4 | 99583507 | missense variant | T/C | snv | 0.25 | 0.26 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.020 | 1.000 | 2 | 2002 | 2006 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 |