| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 |
|
0.820 | 0.667 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 114556471 | intergenic variant | C/T | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv |
|
0.090 | 1.000 | 9 | 2004 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.925 | 0.040 | 7 | 155461298 | intron variant | G/A | snv | 0.72 |
|
0.070 | 1.000 | 7 | 2004 | 2010 | ||||||||
|
0.925 | 0.040 | 7 | 155461450 | intron variant | T/C | snv | 0.73 |
|
0.060 | 1.000 | 6 | 2004 | 2010 | ||||||||
|
0.925 | 0.040 | 7 | 27095695 | missense variant | C/A;G;T | snv | 0.76 |
|
0.040 | 0.750 | 4 | 2002 | 2009 | ||||||||
|
0.882 | 0.040 | 2 | 171855970 | intron variant | T/C | snv | 0.81 | 0.77 |
|
0.040 | 1.000 | 4 | 2005 | 2010 | |||||||
|
0.882 | 0.040 | 2 | 171787719 | intron variant | T/C | snv | 0.81 |
|
0.040 | 1.000 | 4 | 2005 | 2010 | ||||||||
|
0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 |
|
0.040 | 0.750 | 4 | 2011 | 2017 | ||||||||
|
0.925 | 0.040 | 7 | 116672385 | 5 prime UTR variant | C/G | snv | 0.40 |
|
0.030 | 1.000 | 3 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 102068385 | missense variant | G/A | snv | 1.8E-02 | 1.7E-02 |
|
0.030 | 1.000 | 3 | 2006 | 2010 | |||||||
|
0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2005 | 2012 | ||||||||
|
0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv |
|
0.020 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 1.000 | 2 | 2009 | 2016 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 1.000 | 2 | 2009 | 2016 | |||||||
|
1.000 | 0.040 | 7 | 112156322 | intron variant | A/C | snv | 7.2E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv |
|
0.020 | 0.500 | 2 | 2011 | 2013 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2009 | 2019 | |||||||||
|
0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2019 | |||||||||
|
0.925 | 0.040 | X | 5893158 | missense variant | G/A | snv | 1.1E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.925 | 0.040 | 2 | 184902089 | intron variant | A/G;T | snv |
|
0.020 | 0.500 | 2 | 2014 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 88579603 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2018 |