| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.820 | 1.000 | 5 | 2009 | 2013 | ||||||||
|
1.000 | 0.120 | 4 | 164987569 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 45439036 | intron variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.750 | 1.000 | 12 | 2002 | 2015 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 3 | 2006 | 2010 | ||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 4 | 2010 | 2017 | |||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.720 | 1.000 | 3 | 2016 | 2018 | |||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 9 | 2005 | 2011 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 3 | 2005 | 2016 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 3 | 2005 | 2016 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.710 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
0.710 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.710 | 1.000 | 2 | 2010 | 2012 | |||||||
|
0.776 | 0.160 | 3 | 156679960 | intron variant | C/T | snv | 0.92 |
|
0.710 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 |
|
0.710 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.710 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.710 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2016 |