| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 17 | 49619064 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 17 | 49619327 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 7674190 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 10 | 46025670 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 10 | 121208012 | intergenic variant | C/T | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.160 | 5 | 149732603 | intron variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 10 | 46027444 | missense variant | A/C | snv | 0.44 | 0.41 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 12 | 126919857 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 10 | 121284700 | regulatory region variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 11 | 102519261 | downstream gene variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 11 | 76470587 | intron variant | G/A;T | snv | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 202939708 | downstream gene variant | A/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 9 | 38409359 | intron variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 9 | 128118550 | non coding transcript exon variant | G/A | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 12 | 4372398 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 12 | 114656455 | downstream gene variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 58297122 | downstream gene variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 1 | 109757069 | missense variant | G/A | snv | 9.4E-02 | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 4 | 55349464 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 12 | 47936846 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |