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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.050 | 1.000 | 5 | 2008 | 2016 | |||||
|
4 | 0.925 | 0.080 | 3 | 122258435 | intron variant | G/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
7 | 0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
2 | 0.925 | 0.080 | 8 | 42283031 | intron variant | G/T | snv | 0.22 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.080 | 3 | 122258079 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 42323198 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 3 | 12622336 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | 8 | 42277660 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 3 | 122260843 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 3 | 75330074 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 131958700 | intron variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 15 | 51247171 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 3 | 122261339 | intron variant | G/T | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 |