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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.040 | 1.000 | 4 | 2000 | 2012 | |||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.040 | 0.750 | 4 | 2006 | 2017 | |||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.030 | 1.000 | 3 | 2006 | 2011 | |||||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2002 | 2012 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.030 | 1.000 | 3 | 2004 | 2009 | ||||||||
|
0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 |
|
0.020 | 0.500 | 2 | 2001 | 2003 | ||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.160 | 7 | 80677034 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 9 | 128122474 | missense variant | C/A;T | snv | 4.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
11 | 49175866 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
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 | ||||||||
|
0.716 | 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 | ||||||||
|
1.000 | 0.120 | 22 | 32110063 | missense variant | C/G;T | snv | 4.8E-02; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.240 | X | 114584047 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |