| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 99880120 | missense variant | A/C;G | snv | 0.34; 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 150059725 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 85964391 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 126046147 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.160 | 3 | 165837337 | synonymous variant | C/T | snv | 5.6E-02 | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 21 | 25955632 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 10 | 98425662 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 15 | 51218505 | missense variant | T/A | snv | 0.45 | 0.42 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 12405654 | intron variant | G/T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 14 | 80211468 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.160 | 15 | 72259371 | intron variant | C/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 12 | 17567834 | intron variant | G/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 16 | 70702849 | intron variant | C/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 5559959 | missense variant | G/C | snv | 4.2E-02 | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 17 | 5541923 | missense variant | G/A | snv | 4.2E-02 | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 19 | 44908634 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |