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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 11 | 2803570 | intron variant | G/T | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.120 | 9 | 22132077 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.160 | 17 | 2312964 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.030 | 0.333 | 3 | 2010 | 2012 | |||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 6 | 20718009 | intron variant | A/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 6 | 20659575 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 6 | 20725009 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 6 | 20641105 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 0.040 | 0.750 | 4 | 2009 | 2013 | ||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.040 | 0.750 | 4 | 2005 | 2013 | ||||
|
1 | 5 | 35230278 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 0.925 | 0.120 | 9 | 81694033 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 3 | 23294959 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 5 | 35229973 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |