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 | 7 | 100405149 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 7 | 101856650 | intron variant | G/A | snv | 2.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 105292627 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
9 | 0.925 | 0.080 | 8 | 105569300 | intron variant | A/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 2 | 105842350 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 10616561 | intron variant | C/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 7 | 106732314 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.925 | 0.160 | 13 | 108308037 | 3 prime UTR variant | T/A | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 108564420 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 6 | 110394933 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 6 | 110396290 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
12 | 5 | 1104823 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 9 | 110549951 | missense variant | G/C;T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 111585263 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 112611778 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 13 | 113257218 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 13 | 113358194 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 13 | 113362571 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 7 | 116875727 | intron variant | A/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 117612524 | intron variant | GTCA/-;GTCAGTCA | delins | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 12 | 121779004 | 3 prime UTR variant | A/G | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 3 | 123114156 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 124626515 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |