| 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 | 1.000 | 0.160 | 12 | 59689707 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 12 | 68944857 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 1 | 229105486 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 1 | 226595161 | intron variant | G/A | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 8 | 121117030 | intron variant | T/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 15 | 53583969 | intron variant | GAGA/-;GA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.360 | 15 | 78943104 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.280 | 1 | 169601610 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 7 | 151625186 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.240 | 4 | 55955640 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.160 | 1 | 154802768 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 19 | 36385416 | intron variant | G/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 1 | 191136701 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 3 | 174801688 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 3 | 111597517 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 8 | 132042380 | intron variant | A/T | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 1 | 217543535 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 2 | 61965000 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 2 | 115234275 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 10 | 85018443 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 3 | 168158417 | intergenic variant | A/G | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 5 | 43743007 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 18 | 59195550 | intergenic variant | C/T | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 1 | 4529823 | intergenic variant | C/T | snv | 6.1E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 |