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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.938 | 32 | 1999 | 2019 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.100 | 0.933 | 15 | 1997 | 2017 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 2000 | 2017 | |||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.050 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.050 | 0.800 | 5 | 2012 | 2019 | |||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.040 | 0.750 | 4 | 2005 | 2019 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.040 | 0.750 | 4 | 2005 | 2018 | |||||||
|
0.776 | 0.240 | 1 | 11859214 | upstream gene variant | A/G | snv | 0.39 |
|
0.040 | 0.750 | 4 | 2009 | 2015 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.040 | 1.000 | 4 | 2004 | 2019 | ||||||||
|
0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 |
|
0.040 | 1.000 | 4 | 2005 | 2008 | ||||||||
|
0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 |
|
0.040 | 0.750 | 4 | 2007 | 2010 | |||||||
|
0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 |
|
0.040 | 0.750 | 4 | 1997 | 2017 | |||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.730 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 162254796 | intron variant | A/C;T | snv |
|
0.030 | 1.000 | 3 | 2010 | 2019 | |||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.851 | 0.200 | 1 | 160882036 | missense variant | A/G;T | snv | 0.66 |
|
0.030 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.730 | 1.000 | 3 | 2008 | 2018 | |||||||
|
0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 |
|
0.830 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 156937289 | missense variant | T/C | snv | 0.64 | 0.66 |
|
0.030 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 167312757 | intron variant | A/G | snv | 1.0E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.925 | 0.120 | 1 | 119975336 | intron variant | G/T | snv | 0.17 |
|
0.820 | 1.000 | 2 | 2007 | 2017 |