| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 4 | 79966815 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 16 | 85981710 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 6 | 167098098 | intron variant | T/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 10 | 99518968 | intergenic variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 11 | 128476898 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 203843041 | intergenic variant | T/-;TT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 1 | 113943285 | intron variant | T/C | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 3 | 49618715 | intron variant | T/C | snv | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 12 | 6393576 | upstream gene variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 14 | 88022477 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 15 | 79975159 | upstream gene variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 16 | 11225500 | downstream gene variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 65459327 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 2 | 144724260 | intron variant | A/G | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |