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 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
4 | 0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1 | 11233902 | intron variant | C/A;T | snv | 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 | 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 | |||
|
17 | 0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.320 | 4 | 122619586 | intron variant | C/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.120 | 20 | 56387716 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 10 | 113580733 | intron variant | G/A;C | snv | 0.57; 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 186550471 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.827 | 0.120 | 16 | 55477625 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 0.120 | 21 | 37749345 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 119809354 | intron variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 11 | 35166644 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 |