| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 72282884 | upstream gene variant | -/TCC;TCCT | ins | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 |
|
0.700 | 1.000 | 4 | 2018 | 2019 | |||||||
|
16 | 71545764 | intron variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
3 | 49568755 | intron variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
16 | 28287097 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
17 | 58349781 | intron variant | A/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 6 | 26157851 | upstream gene variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
4 | 130143535 | intergenic variant | A/C | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 179850608 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 112689091 | intron variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 24181603 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 92392214 | intergenic variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 70383416 | downstream gene variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 123935062 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 110466092 | intergenic variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
8 | 31008217 | intron variant | A/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 102217471 | intergenic variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 163599232 | intron variant | A/C | snv | 7.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 59896409 | intergenic variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 16320756 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 49634221 | intron variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 41383668 | downstream gene variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 46687409 | intron variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 71335356 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |