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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.020 | 0.500 | 2 | 2010 | 2018 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.020 | 0.500 | 2 | 2007 | 2010 | |||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
1 | 4 | 100647799 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24064827 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 24059742 | intron variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24069684 | intron variant | C/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 135122706 | downstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 233749231 | intron variant | T/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233749337 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 10 | 33198261 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123093392 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233757136 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 10 | 37531016 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 20 | 14931037 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 11 | 123090950 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 56597931 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |