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 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 166960059 | upstream gene variant | T/G | snv | 0.57 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
7 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.800 | 1.000 | 3 | 2008 | 2017 | ||||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 16 | 23853269 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.882 | 0.240 | 20 | 50338887 | regulatory region variant | T/C | snv | 0.51 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 20812357 | intron variant | G/A | snv | 0.64 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 0.800 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.800 | 1.000 | 2 | 2012 | 2017 | |||
|
3 | 0.925 | 0.040 | 10 | 35006503 | downstream gene variant | C/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.040 | 5 | 150898347 | intron variant | A/G | snv | 8.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 6 | 143577757 | intron variant | A/G | snv | 4.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
4 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 6039267 | intron variant | C/A | snv | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2015 |