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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 10 | 52770307 | intron variant | A/G | snv | 0.49 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.760 | 1.000 | 8 | 2011 | 2017 | ||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.760 | 1.000 | 8 | 2011 | 2017 | ||||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.060 | 1.000 | 6 | 2015 | 2018 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.050 | 1.000 | 5 | 2012 | 2015 | ||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.730 | 1.000 | 5 | 2013 | 2017 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.720 | 1.000 | 5 | 2013 | 2017 | |||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
4 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.240 | 7 | 106288069 | upstream gene variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 |