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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 6 | 2007 | 2019 | ||||
|
3 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 2 | 2007 | 2019 | ||||
|
5 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||
|
9 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.160 | 16 | 53735765 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 11 | 2010 | 2019 | ||||
|
3 | 0.851 | 0.120 | 16 | 53808996 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||
|
1 | 0.882 | 0.120 | 16 | 53787703 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||
|
1 | 0.925 | 0.120 | 16 | 53794154 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 53777876 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 4 | 2016 | 2019 | ||||
|
1 | 16 | 53765367 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.925 | 0.120 | 16 | 53768582 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
3 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 16 | 53726175 | intron variant | -/GA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.882 | 0.160 | 16 | 53784548 | intron variant | G/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 16 | 53775211 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 53766329 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 16 | 53792122 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.120 | 16 | 53766065 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 16 | 53787213 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |