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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 38783103 | upstream gene variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
11 | 5205088 | splice donor variant | -/A | ins |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
6 | 151735234 | intron variant | -/A | ins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
1 | 173081132 | intergenic variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
8 | 42673524 | intergenic variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
15 | 58426498 | intron variant | -/A | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 77235823 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 28753031 | upstream gene variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 28753031 | upstream gene variant | -/A;AA | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 6 | 32638205 | intron variant | -/A;G | ins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
18 | 46262655 | intron variant | -/AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 5 | 173218944 | intergenic variant | -/AA;AAA;AAAA | delins | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 14 | 80992418 | 3 prime UTR variant | -/AAA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 19512621 | intron variant | -/AAACA;AACA;AACAAAACA;AACAAAACAAAACA | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
17 | 48923631 | intron variant | -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.160 | 3 | 41856512 | intron variant | -/AATATATATATA | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 4 | 10073861 | upstream gene variant | -/AT | delins |
|
0.700 | 1.000 | 3 | 2010 | 2013 | |||||||||
|
0.925 | 0.120 | 4 | 10073861 | upstream gene variant | -/AT | delins |
|
0.700 | 1.000 | 3 | 2010 | 2013 | |||||||||
|
11 | 8100687 | intron variant | -/AT | delins | 3.5E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 4 | 10073861 | upstream gene variant | -/AT | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1 | 196948769 | intron variant | -/AT | delins | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 6 | 32587634 | intron variant | -/AT | ins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
3 | 142496336 | intron variant | -/ATATCT;ATCT;ATGTATATATATATACATGTATATATATATGTATATATATATATCT;CT | delins | 9.6E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 6 | 33090337 | downstream gene variant | -/ATTT | delins | 4.3E-04 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 26101212 | upstream gene variant | -/C | delins | 9.7E-03 |
|
0.700 | 1.000 | 2 | 2011 | 2013 |