| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2008 | 2013 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2004 | 2016 | ||||||||
|
0.776 | 0.160 | 3 | 156679960 | intron variant | C/T | snv | 0.92 |
|
0.710 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.882 | 0.120 | 3 | 156689208 | intron variant | G/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 4 | 13607505 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.720 | 1.000 | 0 | 1997 | 1998 | |||||||
|
1.000 | 0.120 | 7 | 140753379 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.720 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 0.120 | 9 | 16858086 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 16911668 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16877790 | intergenic variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16865701 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16854369 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 16848792 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16856885 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 9 | 16864523 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 16864524 | intron variant | GTCT/- | delins | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |