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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.120 | 14 | 81151652 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.160 | 3 | 124300955 | intron variant | C/A;T | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.160 | 16 | 20389517 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 84804874 | intron variant | C/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 0.040 | 3 | 170999732 | intron variant | T/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | X | 96302380 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.120 | 2 | 162435107 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 1 | 196729815 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.320 | 17 | 17583205 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.120 | 6 | 29510044 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.080 | 20 | 23629625 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 1.000 | 0.040 | 4 | 76490987 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 2 | 128270387 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 6 | 160236104 | intron variant | GTT/- | delins | 9.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |