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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 0.969 | 196 | 2009 | 2019 | ||||
|
10 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 0.070 | 1.000 | 7 | 2011 | 2018 | |||
|
3 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 0.060 | 1.000 | 6 | 2011 | 2015 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
5 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.160 | X | 12885361 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2009 | 2019 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
6 | 0.807 | 0.320 | X | 12906578 | intron variant | C/G | snv | 0.30 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 1.000 | 2 | 2016 | 2020 | |||
|
1 | 1.000 | 0.080 | X | 12914412 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 2 | 112835941 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 7 | 55152484 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 5 | 157110905 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 |