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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 | 0.050 | 1.000 | 5 | 2010 | 2019 | ||||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.830 | 1.000 | 4 | 2010 | 2015 | ||||
|
7 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.810 | 1.000 | 3 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.200 | 2 | 191145762 | intron variant | A/C | snv | 0.55 | 0.810 | 1.000 | 3 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.360 | 6 | 31369093 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.710 | 0.500 | 2 | 2013 | 2017 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
2 | 0.925 | 0.280 | 6 | 31131800 | intron variant | G/A | snv | 6.3E-02 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 0.925 | 0.280 | 3 | 46164194 | intron variant | C/T | snv | 0.62 | 0.810 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.200 | 6 | 31368641 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 0.925 | 0.200 | 6 | 31368791 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.240 | 5 | 157109557 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.280 | 1 | 211329427 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 16 | 30498669 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.360 | 6 | 90248512 | intron variant | C/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.280 | 6 | 90287050 | intron variant | A/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.280 | 1 | 211379722 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.320 | 16 | 10878023 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 |