| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 10378834 | 3 prime UTR variant | G/A | snv | 0.33 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 11 | 112153104 | non coding transcript exon variant | C/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv |
|
0.710 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.763 | 0.320 | 12 | 122170805 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.689 | 0.360 | 12 | 123409283 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 3 | 128081228 | 3 prime UTR variant | A/G | snv | 0.22 | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 3 | 128084115 | non coding transcript exon variant | A/G | snv | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 |
|
0.720 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 136902178 | non coding transcript exon variant | G/A | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 149397514 | intron variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.120 | X | 154964936 | intron variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |