| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.280 | 11 | 108284370 | frameshift variant | -/T | delins |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.240 | 13 | 102861511 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.160 | 4 | 83310951 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.882 | 0.120 | 5 | 143400121 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 12 | 47857143 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 5 | 143399842 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 21 | 45525860 | missense variant | A/G | snv | 2.4E-03 | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 5 | 143400541 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 5 | 143314010 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 6 | 18149120 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 7 | 87544938 | missense variant | G/C;T | snv | 4.0E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 5 | 143399830 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 7 | 99664017 | missense variant | C/T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.200 | 7 | 87553822 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2009 | 2012 | |||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.807 | 0.320 | 6 | 18138997 | missense variant | C/T | snv | 2.8E-02 | 2.6E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.882 | 0.120 | 20 | 3213196 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |