| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 115357179 | intron variant | -/C | delins | 2.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 21318845 | intron variant | -/G | delins | 8.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 53726175 | intron variant | -/GA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 75903368 | intergenic variant | -/GT | delins | 3.0E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
21 | 45150981 | intron variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
12 | 39036246 | intergenic variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
11 | 113097929 | intron variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2015 | 2018 | ||||||||||
|
5 | 96514546 | intron variant | A/C | snv | 0.42 |
|
0.700 | 1.000 | 3 | 2012 | 2018 | ||||||||||
|
1 | 201815159 | intron variant | A/C | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||||
|
2 | 226171887 | intergenic variant | A/C | snv | 0.55 |
|
0.700 | 1.000 | 3 | 2015 | 2018 | ||||||||||
|
9 | 70383416 | downstream gene variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
14 | 61894303 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 153060487 | intron variant | A/C | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
4 | 28513208 | intron variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 67638833 | intron variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 25910925 | intergenic variant | A/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
11 | 8478498 | intron variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 88684137 | intergenic variant | A/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 75786573 | intergenic variant | A/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 11 | 45851540 | intron variant | A/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
8 | 66293006 | intergenic variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 69515846 | regulatory region variant | A/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 70490408 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 93605958 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |