| 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 | 0.120 | 19 | 10284840 | missense variant | C/G | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.020 | 1.000 | 2 | 2004 | 2016 | |||||||
|
0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.240 | 11 | 102875064 | upstream gene variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 |
|
0.030 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
1.000 | 0.120 | 12 | 10313425 | missense variant | A/G;T | snv | 8.2E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.807 | 0.160 | 19 | 10317045 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 5 | 103261019 | intron variant | C/T | snv | 0.30 |
|
0.830 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
1.000 | 0.120 | 5 | 103261591 | intron variant | G/T | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 5 | 103273223 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 10338682 | missense variant | T/C | snv | 0.22 | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.830 | 0.857 | 7 | 2012 | 2019 | |||||||
|
0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 1 | 103546277 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 10 | 103653282 | intron variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 12 | 10450529 | missense variant | A/G;T | snv | 4.0E-06; 2.0E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.120 | 14 | 104513149 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 14 | 104924668 | upstream gene variant | C/T | snv | 0.41 |
|
0.810 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.120 | 14 | 104926500 | intron variant | T/C | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 105004030 | intron variant | G/A | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 105009264 | intron variant | T/G | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 6 | 106121395 | intron variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |