| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 230161913 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 230166030 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 15506955 | missense variant | G/A;C;T | snv | 3.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 12209567 | downstream gene variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 162313721 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 7809908 | missense variant | G/A | snv | 2.0E-03 | 8.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 162323515 | intron variant | A/G | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 53125615 | intron variant | G/A | snv | 3.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 169600495 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 154195150 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 162323874 | intron variant | G/A | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 178546177 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 192808048 | intron variant | C/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 230149309 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 1 | 109272258 | intron variant | C/T | snv | 0.17 | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 53246137 | 3 prime UTR variant | T/G | snv | 6.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 109278685 | downstream gene variant | G/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.080 | 1 | 109278889 | downstream gene variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 230173160 | intron variant | T/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 230188321 | intron variant | T/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 230173735 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 204166660 | intron variant | G/A | snv | 9.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |