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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 108543216 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||||
|
1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
7 | 32252149 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
5 | 88643836 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
9 | 23378222 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
1.000 | 0.080 | 10 | 102230055 | downstream gene variant | G/C | snv | 0.58 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
1 | 109424482 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
10 | 102364848 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1 | 43563682 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
9 | 23362313 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
1 | 41283225 | intron variant | G/T | snv | 8.3E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 6 | 98135024 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
15 | 40930289 | non coding transcript exon variant | G/C | snv | 8.2E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
7 | 133740156 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
1 | 41307830 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
14 | 32809804 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
4 | 102307673 | intron variant | C/T | snv | 9.0E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
2 | 156630761 | intergenic variant | C/G | snv | 0.51 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
2 | 143492918 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 133746181 | intron variant | C/A;T | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 100152437 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
4 | 101786634 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
1 | 72167202 | intron variant | A/G | snv | 7.4E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 |