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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 1 | 55040049 | splice region variant | G/A | snv | 1.9E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 55052644 | splice region variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.120 | 1 | 55044016 | missense variant | T/A | snv | 0.020 | 1.000 | 2 | 2007 | 2007 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 19 | 11111581 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.882 | 0.080 | 19 | 11113307 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.776 | 0.120 | 1 | 55057454 | missense variant | G/A;C;T | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 2 | 21038024 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 15 | 90433737 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 1 | 55046594 | missense variant | C/A | snv | 6.0E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 1 | 55052701 | missense variant | C/T | snv | 7.2E-04 | 6.5E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.851 | 0.080 | 1 | 55063542 | stop gained | C/A;T | snv | 5.6E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 5 | 134608443 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.040 | 1 | 55052400 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 1 | 55052407 | frameshift variant | -/T | ins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.851 | 0.080 | 1 | 55046549 | stop gained | C/G;T | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
29 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.040 | 1 | 55052408 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |