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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 117359856 | missense variant | C/T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2003 | 2004 | |||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2002 | 2015 | |||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2004 | 2005 | |||||||||
|
1.000 | 0.080 | 7 | 55174737 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.080 | 7 | 55181327 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2008 | 2014 | |||||||||
|
0.925 | 0.120 | 7 | 55174735 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.080 | 7 | 55174762 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 113241753 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.925 | 0.160 | 10 | 102392994 | upstream gene variant | G/A | snv | 0.13 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
1.000 | 0.080 | 7 | 87539293 | missense variant | A/G | snv | 6.4E-05 | 1.0E-04 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2017 |