| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 35412760 | regulatory region variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 87895485 | intron variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 54635119 | intergenic variant | -/A;ATTTTTTTTTA | ins | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 31307016 | intron variant | -/C | delins | 4.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 75826516 | downstream gene variant | -/C | delins | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 46096136 | intron variant | -/CTT;CTTT;CTTTT;CTTTTT;CTTTTTT;CTTTTTTT;CTTTTTTTT;CTTTTTTTTTT;CTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 50184820 | 3 prime UTR variant | -/CTTG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 48640988 | intron variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 93272958 | intron variant | -/GA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 92693719 | intron variant | A/- | delins | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 122678167 | intron variant | A/- | delins | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 198629260 | intergenic variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 46130565 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 199043349 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 111069301 | upstream gene variant | A/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
9 | 110576455 | intron variant | A/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 59748211 | intron variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 110005028 | intron variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 132528343 | intron variant | A/C | snv | 5.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |