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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
15 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 8207446 | intron variant | C/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
4 | 0.851 | 0.120 | 12 | 112452972 | intron variant | A/G | snv | 0.21 | 0.020 | 0.500 | 2 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
11 | 0.763 | 0.280 | 16 | 13921224 | intron variant | G/C | snv | 0.23 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.080 | 10 | 94291660 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
4 | 0.851 | 0.120 | 19 | 51692221 | intron variant | G/A;C | snv | 0.30 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
2 | 0.925 | 0.080 | 20 | 56382507 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
7 | 0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
6 | 0.882 | 0.080 | 6 | 41751177 | intron variant | G/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 1427996 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 19 | 17818178 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 80057163 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |