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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.080 | 11 | 125865825 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
11 | 0.790 | 0.280 | 2 | 43872294 | missense variant | C/A;T | snv | 0.21; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 3 | 105576617 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.080 | 9 | 72930966 | synonymous variant | G/A | snv | 0.48 | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.763 | 0.080 | 17 | 65545379 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 4 | 26489495 | intron variant | A/G;T | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 26489811 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 4 | 26489030 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 26484572 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 3 | 2804632 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.742 | 0.160 | 10 | 102837723 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | 0.667 | 3 | 2007 | 2014 | |||
|
16 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 18 | 52999470 | intron variant | G/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53019949 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 18 | 53020881 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53020735 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 |