| 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 | 0.917 | 12 | 2005 | 2017 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2009 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.030 | 1.000 | 3 | 2006 | 2017 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 0.667 | 3 | 2012 | 2017 | |||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.030 | 1.000 | 3 | 2003 | 2009 | |||||||
|
0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.020 | 0.500 | 2 | 2007 | 2012 | |||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2000 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 160195305 | intron variant | A/C | snv | 0.38 |
|
0.020 | 0.500 | 2 | 2007 | 2013 | ||||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 |
|
0.020 | 0.500 | 2 | 2011 | 2016 | |||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
0.851 | 0.200 | 1 | 46931231 | intron variant | C/T | snv | 9.4E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 161802188 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 1 | 169793666 | missense variant | T/A;G | snv | 4.1E-06; 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 116384040 | synonymous variant | A/G | snv | 1.3E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1 | 62596235 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 1 | 23559007 | missense variant | T/A;C | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 1 | 196729815 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 |