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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.790 | 0.970 | 33 | 2002 | 2019 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 16 | 2005 | 2015 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 14 | 2004 | 2016 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2004 | 2016 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2004 | 2016 | ||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 12 | 2004 | 2016 | |||||
|
5 | 0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2015 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2005 | 2014 | ||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2005 | 2016 | ||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 1.000 | 11 | 2004 | 2016 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 2005 | 2014 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 2004 | 2016 | |||||
|
2 | 3 | 179218315 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||||
|
3 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||
|
4 | 1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 2006 | 2016 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.700 | 1.000 | 9 | 2005 | 2014 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 2005 | 2014 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2006 | 2016 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.090 | 0.889 | 9 | 2003 | 2019 | |||||
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2014 | |||||
|
7 | 0.807 | 0.240 | 12 | 25225713 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2005 | 2016 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 8 | 2006 | 2016 | |||||
|
3 | 0.925 | 0.120 | 5 | 112839606 | stop gained | C/G;T | snv | 0.700 | 1.000 | 8 | 1992 | 2015 |