Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 4 | 2002 | 2013 | |||||
|
6 | 0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv | 0.710 | 1.000 | 3 | 2007 | 2016 | |||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2002 | 2015 | |||||
|
9 | 0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 | 0.710 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 113625548 | intron variant | A/G | snv | 0.18 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 118351841 | intron variant | A/G | snv | 0.27 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 12 | 2004 | 2014 | |||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2004 | 2012 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 11 | 2004 | 2012 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 1984 | 2014 | |||||
|
2 | 0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1982 | 2011 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1998 | 2010 | |||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2002 | 2010 | |||||
|
4 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2008 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2002 | 2013 | |||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2012 | ||||
|
3 | 0.882 | 0.280 | 12 | 25227345 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2013 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2009 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2010 |