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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 16 | 75052977 | intron variant | A/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 18 | 76849628 | missense variant | A/G;T | snv | 4.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 18 | 76849634 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 18 | 76904406 | missense variant | C/G | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 10 | 240248 | intron variant | G/A | snv | 8.8E-03 |
|
0.020 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.925 | 0.120 | 10 | 79182874 | intron variant | A/G | snv | 0.46 |
|
0.810 | 0.750 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 38031447 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 6 | 38139068 | intron variant | T/C | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 28485764 | intron variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
1.000 | 0.080 | 12 | 1633343 | intron variant | C/G | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 1 | 68177408 | intron variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 |
|
0.060 | 1.000 | 6 | 2009 | 2013 | |||||||
|
0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | |||||||
|
0.882 | 0.360 | 4 | 6268329 | upstream gene variant | G/A | snv | 0.64 |
|
0.820 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 6291623 | intron variant | T/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 6298213 | intron variant | C/T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 6269316 | upstream gene variant | A/T | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 6293966 | intron variant | C/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 4 | 6280234 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 |
|
0.020 | 0.500 | 2 | 2003 | 2005 |