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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.730 | 0.750 | 4 | 2011 | 2019 | ||||
|
11 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 173201479 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 1 | 167496884 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 1 | 167483453 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 1 | 53906244 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.280 | 1 | 64837448 | intron variant | G/T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.280 | 1 | 161791486 | missense variant | G/C | snv | 0.14 | 9.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 64955388 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.160 | 1 | 24193430 | intergenic variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 1 | 160861258 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 1 | 160830690 | 3 prime UTR variant | T/A;C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 24154900 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 1 | 65058899 | intron variant | C/G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 1 | 159308078 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.050 | 1.000 | 5 | 2015 | 2020 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.040 | 1.000 | 4 | 2014 | 2019 |