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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.030 | < 0.001 | 3 | 2007 | 2012 | |||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.030 | < 0.001 | 3 | 2007 | 2012 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | < 0.001 | 3 | 2007 | 2014 | |||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.030 | < 0.001 | 3 | 2006 | 2015 | |||||||||
|
0.882 | 0.160 | 11 | 57610852 | intron variant | C/T | snv | 0.39 |
|
0.030 | < 0.001 | 3 | 2010 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.030 | < 0.001 | 3 | 2007 | 2014 | |||||||||
|
0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 |
|
0.030 | < 0.001 | 3 | 2009 | 2014 | ||||||||
|
0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 |
|
0.030 | < 0.001 | 3 | 2009 | 2014 | ||||||||
|
0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 |
|
0.020 | < 0.001 | 2 | 2013 | 2014 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | < 0.001 | 2 | 2005 | 2020 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | < 0.001 | 2 | 2005 | 2020 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.020 | < 0.001 | 2 | 2008 | 2013 | |||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.020 | < 0.001 | 2 | 2008 | 2013 | |||||||
|
0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 |
|
0.720 | < 0.001 | 2 | 2014 | 2018 | |||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.020 | < 0.001 | 2 | 2013 | 2014 | |||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.020 | < 0.001 | 2 | 2013 | 2014 | |||||||
|
0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 |
|
0.020 | < 0.001 | 2 | 2012 | 2013 | ||||||||
|
0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 |
|
0.020 | < 0.001 | 2 | 2012 | 2013 | ||||||||
|
0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 |
|
0.020 | < 0.001 | 2 | 2014 | 2015 | |||||||
|
0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 |
|
0.020 | < 0.001 | 2 | 2010 | 2012 | ||||||||
|
0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 |
|
0.020 | < 0.001 | 2 | 2014 | 2018 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | < 0.001 | 2 | 2012 | 2016 |