| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 88829210 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 88919909 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 171474459 | regulatory region variant | T/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 204457167 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 74350715 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 78675837 | intron variant | G/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 144513432 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 144513592 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 218432119 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 218432293 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 7797607 | intron variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 105818436 | intron variant | G/T | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.080 | 15 | 78521704 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
8 | 143916167 | 3 prime UTR variant | G/A | snv | 0.35; 7.5E-06 | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
12 | 85330318 | intron variant | A/G;T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 9 | 114943689 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
11 | 45223352 | intron variant | C/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 15 | 78482334 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78623522 | upstream gene variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
12 | 101626668 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 218414937 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
3 | 128168114 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 9 | 23588585 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |