Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 203843041 | intergenic variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 1 | 113943285 | intron variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 3 | 49618715 | intron variant | T/C | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 12 | 6393576 | upstream gene variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 14 | 88022477 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 16 | 11225500 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 65459327 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 2 | 144724260 | intron variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 5 | 40396323 | regulatory region variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 5 | 150849504 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 5 | 10521556 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 200909599 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.120 | 12 | 106804833 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 10 | 79282718 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 |