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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 3 | 119435715 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 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 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.320 | 16 | 85984057 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 17 | 42360972 | intron variant | C/G | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 2 | 1412867 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 4 | 76007275 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 16 | 85985027 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 8 | 11466955 | intron variant | A/G | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.752 | 0.360 | 10 | 6059750 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 21 | 42421219 | intron variant | C/A | snv | 0.44 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.160 | 8 | 11493510 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 10 | 61929318 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.200 | 6 | 137876194 | intron variant | A/C | snv | 0.62 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 3 | 119455829 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 |