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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.050 | 1.000 | 5 | 2012 | 2019 | ||||
|
6 | 0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 | 0.730 | 1.000 | 4 | 2013 | 2017 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.040 | 1.000 | 4 | 2017 | 2018 | ||||
|
6 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 0.730 | 1.000 | 4 | 2013 | 2016 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.030 | 1.000 | 3 | 2010 | 2017 | ||||
|
10 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 0.720 | 1.000 | 3 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.030 | 1.000 | 3 | 2016 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 32633026 | intron variant | T/C | snv | 0.49 | 0.720 | 1.000 | 3 | 2013 | 2014 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 10 | 44378805 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
4 | 0.882 | 0.080 | 2 | 48981895 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 4651257 | intron variant | G/A | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 9 | 5010192 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.080 | 9 | 99143552 | intron variant | A/G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 5076613 | intron variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 4 | 176764117 | intron variant | C/G | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 6 | 52243264 | intron variant | G/A | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 72101710 | intron variant | A/G | snv | 5.5E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 |