| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 10 | 17114074 | missense variant | T/C | snv | 7.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 7 | 36865445 | intron variant | C/A | snv | 0.46 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 19 | 48753131 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.100 | 0.905 | 21 | 1996 | 2018 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 1.000 | 15 | 2004 | 2018 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.050 | 1.000 | 5 | 2006 | 2018 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2018 | |||||||||
|
0.925 | 0.160 | 10 | 67900736 | intron variant | G/A | snv | 7.1E-02 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 15 | 73811619 | intergenic variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 4 | 6301015 | missense variant | A/G | snv | 4.4E-05 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 1 | 56678313 | intron variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.160 | 22 | 36314138 | splice region variant | T/C | snv | 0.57 | 0.53 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.280 | 10 | 67907144 | intron variant | A/G | snv | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |