| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2002 | 2004 | |||||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
1.000 | 0.040 | 8 | 140700895 | missense variant | A/T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
10 | 102422814 | missense variant | G/A | snv | 1.3E-04 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
10 | 102411788 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2007 | |||||||
|
16 | 55485759 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
16 | 55485367 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.925 | 0.080 | 11 | 44618361 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 16 | 68812244 | missense variant | C/G;T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 7 | 116740993 | missense variant | A/G | snv | 6.0E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 7 | 55143443 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
22 | 39969528 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
16 | 75235116 | missense variant | A/C | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||||
|
0.882 | 0.080 | 12 | 120222977 | missense variant | C/G;T | snv | 5.4E-03 | 5.4E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |