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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 2 | 40337507 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 14 | 50767442 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
7 | 0.827 | 0.280 | 5 | 151070675 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 10 | 35212510 | 3 prime UTR variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.160 | 4 | 177438525 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.160 | 2 | 70673271 | synonymous variant | G/A | snv | 0.12 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.160 | 2 | 40257934 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
1 | 1.000 | 0.160 | 20 | 9840271 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.160 | 12 | 124851404 | intron variant | C/A | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.160 | 4 | 124718662 | intergenic variant | T/A | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 6 | 31636736 | missense variant | C/A;T | snv | 3.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2017 | 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 | 2010 | 2017 | ||||
|
5 | 0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.240 | 7 | 95425028 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 |