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 | 0.100 | 1.000 | 12 | 2005 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 11 | 2005 | 2019 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 1999 | 2007 | |||||
|
12 | 0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2000 | 2011 | ||||
|
6 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
4 | 0.925 | 0.080 | 11 | 128911776 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.807 | 0.080 | 14 | 81143584 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.827 | 0.240 | 2 | 48688427 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.120 | 5 | 112780878 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.240 | 20 | 58854075 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
4 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |