| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2002 | 2012 | |||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.020 | 1.000 | 2 | 2006 | 2009 | |||||||
|
0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 17 | 49619326 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 17 | 7674190 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 10 | 87961012 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
2 | 241188699 | stop gained | C/G;T | snv | 5.5E-03 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.120 | 9 | 121665094 | intron variant | G/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
3 | 186845325 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
11 | 76642761 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 2 | 224506080 | missense variant | T/A;C | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |