| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.857 | 1 | 2005 | 2019 | |||||||
|
0.882 | 0.200 | 6 | 166969587 | downstream gene variant | G/A;T | snv |
|
0.850 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.925 | 0.160 | 4 | 40301616 | intergenic variant | G/A;T | snv |
|
0.830 | 1.000 | 1 | 2011 | 2017 | |||||||||
|
0.925 | 0.160 | 2 | 203857029 | intergenic variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
1.000 | 0.120 | 14 | 80984885 | intron variant | C/T | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
1.000 | 0.120 | 8 | 133133268 | intron variant | G/A | snv | 0.49 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.925 | 0.160 | 22 | 37185445 | missense variant | C/A;G | snv | 0.43 |
|
0.810 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 | |||||||||
|
1.000 | 0.120 | 6 | 33850152 | intergenic variant | T/C | snv | 0.45 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.440 | 6 | 31090401 | intergenic variant | T/A;C | snv |
|
0.810 | 0.667 | 1 | 2011 | 2019 | |||||||||
|
0.882 | 0.120 | 2 | 203880280 | regulatory region variant | T/C | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 1 | 160495121 | intron variant | C/A;G | snv | 0.96 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 3 | 188407332 | intron variant | C/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 14 | 98021670 | intergenic variant | G/T | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.320 | 6 | 31382927 | upstream gene variant | C/T | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 32369853 | intron variant | G/A;C | snv | 0.59 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.400 | 6 | 33092341 | non coding transcript exon variant | G/A | snv | 2.6E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.120 | 14 | 80992418 | 3 prime UTR variant | T/A | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 1 | 2597658 | intron variant | T/C | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 6 | 30569829 | upstream gene variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 6 | 29967473 | downstream gene variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 31034839 | synonymous variant | C/T | snv | 0.20 | 0.17 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 6 | 30006148 | non coding transcript exon variant | C/T | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 12 | 42475338 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 |