| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 4 | 168921582 | missense variant | C/T | snv | 7.2E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 9 | 21971119 | missense variant | T/C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | |||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.200 | 17 | 7673603 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.740 | 1.000 | 4 | 2009 | 2018 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2014 | |||||||
|
0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 45568989 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 4 | 99313834 | missense variant | C/T | snv | 3.7E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |