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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 22 | 36312039 | intron variant | C/G;T | snv | 0.88 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 6 | 151871196 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.160 | 8 | 128046110 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 1 | 243335010 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 21 | 43419273 | intron variant | A/G | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 13 | 60885853 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 19 | 2568808 | intron variant | CA/-;CACA | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.200 | 1 | 196724321 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 6 | 7240643 | intron variant | G/A | snv | 8.5E-02 | 8.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 11 | 22859013 | intron variant | C/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.200 | 2 | 113131484 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 47588297 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 7 | 6387310 | intron variant | C/A;T | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 7 | 44184122 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 16 | 72061751 | intron variant | A/C | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 2 | 212304043 | intron variant | G/A | snv | 0.96 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 10 | 16828293 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 7 | 6380162 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 20 | 59309707 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 |