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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.827 | 0.120 | 16 | 23853269 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.827 | 0.120 | 7 | 99161494 | intergenic variant | C/A | snv | 0.67 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.827 | 0.120 | 7 | 50136058 | intron variant | G/A | snv | 0.33 | 0.33 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.851 | 0.160 | 17 | 39756124 | downstream gene variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 198880294 | downstream gene variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.200 | 5 | 132442760 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.040 | 19 | 33240645 | regulatory region variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.040 | 22 | 39263768 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2015 | 2017 |