| 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 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 1 | 45338378 | 5 prime UTR variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 1 | 45336998 | intron variant | A/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.160 | 1 | 155188197 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 2 | 218136243 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 2 | 136115158 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 2 | 218135587 | synonymous variant | C/T | snv | 0.48 | 0.54 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 230211910 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.200 | 5 | 111073450 | 5 prime UTR variant | C/G | snv | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 5 | 150732056 | intron variant | T/C | snv | 8.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 6 | 33198257 | intron variant | A/G | snv | 0.27 | 0.28 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |