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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 2005 | 2011 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2002 | 2011 | ||||
|
2 | 1.000 | 0.120 | 9 | 84955504 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
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 | |||||
|
4 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2012 | ||||
|
1 | 7 | 55160314 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
9 | 0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.160 | 2 | 191722478 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 4 | 93965880 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.160 | 10 | 116727589 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 12 | 4296223 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.776 | 0.160 | 12 | 114678547 | intron variant | T/A;G | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2005 | 2014 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 2005 | 2014 | |||||
|
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 | |||||
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2014 | |||||
|
7 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 7 | 2002 | 2014 | |||||
|
1 | 5 | 112839879 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1992 | 2014 | |||||||
|
1 | 5 | 112839726 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1994 | 2014 |