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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 12 | 114763631 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
3 | 10 | 76552244 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
2 | 14 | 74350715 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 6 | 7797607 | intron variant | C/G | snv | 0.13 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 10 | 68203197 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 12 | 66015587 | regulatory region variant | C/A | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 10 | 103879853 | 3 prime UTR variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 14 | 92631994 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
4 | 0.925 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 3 | 99103206 | intergenic variant | G/T | snv | 0.25 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 3 | 158509097 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 7 | 156334552 | intergenic variant | G/A | snv | 0.40 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
4 | 7 | 28160478 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 221030957 | regulatory region variant | A/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.080 | 6 | 7562999 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 16 | 78191736 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 5 | 54148668 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
5 | 13 | 50132951 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 1 | 118368672 | intergenic variant | T/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 115062886 | intergenic variant | T/A | snv | 0.76 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
11 | 0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 3 | 67405379 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 2 | 219517978 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 7 | 15466382 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2019 | 2019 |