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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 11 | 9907995 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 18 | 13366863 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 47248996 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 12056502 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 37717865 | intron variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 230727252 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 1 | 959193 | intron variant | G/A | snv | 0.82 | 0.69 | 0.710 | < 0.001 | 1 | 2018 | 2018 | |||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 9 | 22103342 | intron variant | T/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 21 | 34085692 | intron variant | C/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 18351676 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 96970814 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 40034837 | intron variant | T/C | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 16923228 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 96947703 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 10 | 102615501 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 22 | 23791306 | intron variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.882 | 0.160 | 6 | 20694653 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 |