| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 50184820 | 3 prime UTR variant | -/CTTG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 71760875 | missense variant | A/C | snv | 0.88 | 0.90 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
17 | 37514283 | downstream gene variant | A/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 139050766 | intron variant | A/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 32459228 | downstream gene variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 117001709 | upstream gene variant | A/C | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 101479462 | intron variant | A/C | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 71832596 | intron variant | A/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 68388414 | missense variant | A/C | snv | 8.0E-03 | 7.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
21 | 43052008 | downstream gene variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 26147948 | regulatory region variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 33405526 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 27859995 | intergenic variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 17427131 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 65382351 | intron variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 56111740 | intergenic variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 50126826 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 111268872 | intron variant | A/C | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 22076380 | intron variant | A/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 42542864 | intergenic variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 11723610 | intron variant | A/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 22884208 | intron variant | A/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 23903604 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |