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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 2 | 100190478 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 119399949 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 65379519 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 2607299 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.200 | 16 | 11310036 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.120 | 2 | 60908994 | intron variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 46193709 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 32973977 | regulatory region variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.160 | 3 | 58571114 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 30222456 | intergenic variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 2 | 68371823 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.160 | 6 | 159068759 | non coding transcript exon variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 6 | 159051263 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2011 | 2011 |