| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 1003856 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 104410836 | regulatory region variant | G/C | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 121024223 | intergenic variant | C/G | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
20 | 12281822 | intron variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 13726414 | regulatory region variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 1 | 13913797 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
8 | 144842937 | stop gained | C/G;T | snv | 1.6E-05; 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 144902955 | upstream gene variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 167601600 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
22 | 17237716 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 1749985 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 177057129 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 188507189 | intron variant | G/A;T | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 223083837 | intron variant | T/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 23767021 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 25377604 | intron variant | G/A;T | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 26440122 | intergenic variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
20 | 288517 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 31371254 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
13 | 32663326 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 35861457 | intergenic variant | G/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 36286661 | intron variant | G/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 38761240 | intron variant | C/A;G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 39556042 | intron variant | C/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 39602982 | intron variant | A/T | snv | 8.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |