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 | 1.000 | 0.080 | 12 | 120983004 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 6 | 2008 | 2019 | |||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 5 | 2008 | 2019 | |||
|
8 | 0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 | 0.800 | 1.000 | 4 | 2013 | 2019 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
9 | 0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
11 | 0.790 | 0.160 | 1 | 154446403 | intron variant | C/T | snv | 0.48 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
9 | 0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
2 | 12 | 120982457 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
1 | 12 | 103089316 | intron variant | A/G | snv | 0.60 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
1 | 12 | 120967407 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 11 | 13335636 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 1 | 65620511 | intron variant | A/T | snv | 0.46 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
1 | 12 | 120985583 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
6 | 1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||
|
3 | 1.000 | 0.080 | 12 | 120981253 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||||
|
5 | 0.925 | 0.120 | 7 | 73556901 | intron variant | C/T | snv | 9.2E-02 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 12 | 120967323 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 12 | 120986771 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 |