| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 6 | 30163346 | 5 prime UTR variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.080 | 16 | 50301163 | missense variant | C/A | snv | 4.3E-03 | 3.6E-03 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 124750812 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 19780778 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 81883307 | missense variant | A/G | snv | 2.5E-02 | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 1 | 67242007 | intron variant | G/A | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 19 | 54871595 | upstream gene variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 35333728 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 150226431 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 227805760 | 5 prime UTR variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 11 | 114526440 | intron variant | -/C;CCACTCTCTTCCTC | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 70529879 | upstream gene variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 240634984 | downstream gene variant | G/A;T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 26890667 | regulatory region variant | T/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
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 | ||||||||
|
0.827 | 0.120 | 20 | 63697746 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 6 | 32981027 | 3 prime UTR variant | C/T | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 11 | 2208529 | regulatory region variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |