| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 24293020 | intron variant | -/GTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 68766738 | intron variant | -/T;TT;TTTTTTTT;TTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 660442 | intron variant | A/- | del | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 101442847 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 21722558 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 56253787 | intron variant | A/C | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 139519556 | intron variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
10 | 125844213 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 126914365 | intron variant | A/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 121464945 | intergenic variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 82013990 | upstream gene variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 46085594 | non coding transcript exon variant | A/C | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 38962032 | intron variant | A/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 112077745 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 134655542 | intron variant | A/C | snv | 8.7E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 123845801 | intron variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 117716081 | intergenic variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 196183605 | intergenic variant | A/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 93006659 | regulatory region variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 65121054 | downstream gene variant | A/C | snv | 7.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
13 | 75636606 | 5 prime UTR variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 44252803 | intron variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 175654 | upstream gene variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
3 | 142469495 | missense variant | A/C | snv | 3.2E-03 | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |