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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.040 | 6 | 34068669 | intron variant | C/T | snv | 0.25 | 0.820 | 1.000 | 3 | 2013 | 2016 | ||||
|
14 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.020 | < 0.001 | 2 | 2014 | 2016 | ||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.040 | 2 | 127283339 | intron variant | T/C | snv | 0.37 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.040 | 19 | 53886867 | intron variant | T/C | snv | 0.36 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
4 | 0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 | 0.720 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
5 | 0.882 | 0.040 | 20 | 6775501 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 119235698 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 17 | 59832902 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 17 | 50063432 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 17 | 50189930 | intron variant | G/A;C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 100188458 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 3 | 50334001 | intron variant | C/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 20 | 6773599 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 20 | 54067899 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2016 | 2016 |