| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv |
|
0.710 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.807 | 0.160 | 17 | 37736525 | intron variant | C/G;T | snv |
|
0.710 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 28518321 | intron variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 9 | 98998959 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.120 | 19 | 54982828 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.120 | 19 | 8977341 | missense variant | T/A;C;G | snv | 2.0E-05; 4.0E-06; 0.74 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 10 | 82191935 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.689 | 0.360 | 12 | 123409283 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 7 | 50674920 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.240 | 2 | 47476361 | splice region variant | T/A;C;G | snv | 4.0E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.120 | 17 | 18347596 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 19 | 7211805 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 7 | 2907529 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.763 | 0.320 | 12 | 122170805 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |