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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
1 | 16 | 53898001 | intron variant | C/T | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 53787213 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 54118818 | 3 prime UTR variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 16 | 53775211 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 53765367 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 53766329 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 54114716 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 16 | 53792122 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 16 | 53777876 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
6 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
3 | 1.000 | 0.080 | 16 | 53832063 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 11 | 2010 | 2019 | ||||
|
6 | 0.925 | 0.120 | 16 | 53794154 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 3 | 2013 | 2019 | ||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
9 | 0.925 | 0.120 | 16 | 53768582 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
8 | 0.851 | 0.120 | 16 | 53808996 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||
|
7 | 0.882 | 0.120 | 16 | 53787703 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||
|
10 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
5 | 0.925 | 0.120 | 16 | 53788739 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.925 | 0.120 | 16 | 53776774 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.120 | 16 | 53779538 | intron variant | A/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.882 | 0.120 | 16 | 53766065 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 |