| 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 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 1 | 67281732 | downstream gene variant | A/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.200 | 2 | 191145762 | intron variant | A/C | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.882 | 0.320 | 6 | 137852285 | intron variant | A/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.280 | 1 | 211329427 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.710 | 0.500 | 1 | 2013 | 2017 | |||||||||
|
0.925 | 0.240 | 5 | 157109557 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.200 | 13 | 43912653 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.090 | 1.000 | 9 | 2000 | 2019 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.830 | 0.800 | 3 | 2010 | 2017 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.320 | 4 | 87983034 | 3 prime UTR variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.280 | 6 | 90287050 | intron variant | A/G | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.280 | 6 | 111601517 | non coding transcript exon variant | A/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.200 | 6 | 52187730 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |