| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 80380364 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
4 | 4773674 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 142115369 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 198049348 | intron variant | G/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 198085516 | missense variant | G/A | snv | 0.44 | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
3 | 141602994 | intron variant | -/CT | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 120888256 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
2 | 102324851 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 102466075 | 5 prime UTR variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 128316987 | regulatory region variant | T/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 6213829 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 37627796 | intron variant | -/G | delins | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 151824266 | intron variant | C/G | snv | 7.6E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 118805063 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 76632384 | upstream gene variant | A/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 8894199 | upstream gene variant | C/T | snv | 9.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 40614389 | intergenic variant | -/A | delins | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 39992780 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
4 | 38809430 | intron variant | T/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 10583772 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
9 | 128850912 | intron variant | G/A | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 11397150 | intron variant | C/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 101523907 | downstream gene variant | A/G;T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 177355217 | upstream gene variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |