| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 31473191 | intron variant | -/T | delins | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 241561143 | intron variant | -/T;TGCT | ins | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 83916786 | intron variant | -/TAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 93790493 | intron variant | -/TAAC | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 80750319 | intergenic variant | -/TAAC | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 56292882 | regulatory region variant | -/TGTATTATCTTTTGTTTAAACCTTAGCCTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
11 | 69465339 | upstream gene variant | A/- | del | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 142194305 | intron variant | A/- | del | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 218314933 | intron variant | A/- | del | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 177081190 | downstream gene variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 171753429 | intergenic variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 214436403 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
20 | 21243309 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 144485527 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 11 | 75565133 | intron variant | A/C | snv | 0.78 |
|
0.700 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
12 | 20704533 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | ||||||||||
|
6 | 35037307 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
4 | 81299170 | intergenic variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
11 | 89491285 | 5 prime UTR variant | A/C | snv | 0.69 | 0.61 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
2 | 232123872 | intron variant | A/C | snv | 0.72 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
19 | 55141929 | missense variant | A/C | snv | 0.12 | 0.10 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
14 | 91960878 | intergenic variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||||
|
4 | 17991787 | intron variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 218442109 | 3 prime UTR variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
15 | 69755818 | intron variant | A/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |