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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.050 | 1.000 | 5 | 2012 | 2015 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.720 | 1.000 | 5 | 2013 | 2017 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
4 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.776 | 0.240 | 2 | 46329206 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.320 | 6 | 31576050 | intron variant | G/A | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 4 | 69293669 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 10392998 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 12 | 6382781 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 154615193 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 52770307 | intron variant | A/G | snv | 0.49 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.200 | 2 | 46349033 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 90482078 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 8 | 138653967 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 15245360 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 33136398 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.160 | 6 | 137908902 | intergenic variant | T/- | delins | 2.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 6 | 137908903 | intergenic variant | T/A | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 94012060 | intergenic variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.060 | 1.000 | 6 | 2015 | 2018 |