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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.900 | 0.961 | 51 | 2007 | 2019 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.900 | 0.964 | 28 | 2007 | 2019 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.730 | 1.000 | 6 | 2009 | 2019 | ||||
|
3 | 0.925 | 0.120 | 16 | 53811575 | intron variant | C/A;G | snv | 0.810 | 1.000 | 4 | 2010 | 2014 | |||||
|
5 | 0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 3 | 2012 | 2016 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2012 | 2016 | |||||
|
5 | 0.925 | 0.120 | 16 | 53788739 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
6 | 0.925 | 0.120 | 16 | 53776774 | intron variant | T/C | snv | 0.40 | 0.710 | 1.000 | 2 | 2007 | 2011 | ||||
|
3 | 0.925 | 0.120 | 16 | 53785965 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 16 | 54118136 | 3 prime UTR variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.925 | 0.120 | 16 | 53768582 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 16 | 54115620 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.925 | 0.120 | 16 | 53794154 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.882 | 0.160 | 16 | 53784548 | intron variant | G/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 16 | 53772541 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 16 | 53844521 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 16 | 53769311 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 16 | 54114023 | 3 prime UTR variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 16 | 53825246 | intron variant | A/G | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.882 | 0.120 | 16 | 53787703 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.200 | 16 | 53799693 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.120 | 16 | 53779538 | intron variant | A/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 |