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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.100 | 0.917 | 12 | 2011 | 2017 | |||||
|
9 | 0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 | 0.050 | 1.000 | 5 | 2013 | 2018 | ||||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2013 | 2019 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
4 | 0.925 | 0.120 | 7 | 140800651 | intron variant | T/A | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 34652333 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 12 | 65598856 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.200 | 11 | 122146890 | intron variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 140792239 | intron variant | T/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.763 | 0.360 | 9 | 94167461 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 16 | 56834788 | intron variant | A/G | snv | 0.47 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 88998592 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 140858940 | intron variant | G/C | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 140806604 | intron variant | T/A | snv | 5.5E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 4 | 54228462 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |