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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 113750518 | regulatory region variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 219216441 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 12 | 122046634 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.240 | 1 | 155236381 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
27 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 5 | 122582513 | intergenic variant | G/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2020 | 2020 |