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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.120 | 5 | 177367190 | intron variant | G/A | snv | 0.34 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
8 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
3 | 0.925 | 0.120 | 7 | 30897563 | intron variant | T/A;C | snv | 0.830 | 1.000 | 3 | 2012 | 2017 | |||||
|
4 | 0.882 | 0.120 | 5 | 177371305 | intron variant | G/A | snv | 0.24 | 0.21 | 0.830 | 1.000 | 3 | 2012 | 2017 | |||
|
3 | 0.925 | 0.120 | 13 | 42180386 | intron variant | T/C | snv | 0.34 | 0.830 | 1.000 | 3 | 2012 | 2017 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.030 | 0.333 | 3 | 2016 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 21570274 | intron variant | C/T | snv | 0.16 | 0.14 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
3 | 0.925 | 0.120 | 7 | 30875863 | intron variant | G/A | snv | 7.2E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 0.925 | 0.120 | 13 | 42115924 | intron variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2012 | 2013 | |||||
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 13 | 42128575 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.320 | 4 | 186544404 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.320 | 10 | 67915401 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 12 | 14851655 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 21 | 36462343 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 19 | 40738982 | intron variant | G/A | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.280 | 10 | 67907144 | intron variant | A/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.200 | 16 | 20353266 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 7 | 139754366 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 12 | 121638011 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.240 | 4 | 186535189 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.240 | 12 | 121631099 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |