| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 137031531 | missense variant | G/A | snv | 1.1E-02 | 9.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 108536216 | intron variant | G/A | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 100376055 | downstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 198625652 | intergenic variant | C/T | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 4 | 80005847 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
16 | 4070075 | intron variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
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 | |||||||
|
16 | 30471482 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 198710886 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 7140598 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
21 | 15432048 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 18003191 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 181121038 | intron variant | A/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 47046347 | intron variant | T/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 196789417 | intron variant | A/C;G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 150620190 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 22706945 | intron variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 171142104 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 22165584 | regulatory region variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 56815721 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 38370434 | intron variant | T/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 143404536 | intron variant | A/G | snv | 3.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 67015161 | intron variant | AAAAAAAA/-;AA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAA;AAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 88777772 | intron variant | CT/- | delins | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101236803 | upstream gene variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |