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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.200 | 19 | 11107491 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 19 | 11105436 | missense variant | C/T | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.160 | 19 | 11105557 | inframe deletion | TGG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 19 | 11120425 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 19 | 11105599 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
10 | 0.790 | 0.200 | 19 | 11106668 | missense variant | T/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.160 | 19 | 11107402 | stop gained | C/A;G;T | snv | 2.5E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 19 | 11123284 | frameshift variant | -/GCTG | delins | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 19 | 11100286 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.200 | 19 | 11120436 | missense variant | C/A;T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 19 | 11120454 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 19 | 11113650 | missense variant | G/A;C | snv | 2.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.200 | 19 | 11105568 | missense variant | A/G;T | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.160 | 19 | 11107420 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.790 | 0.200 | 19 | 11128085 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.160 | 19 | 11111514 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 19 | 11111519 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 19 | 11113338 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 19 | 15192182 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 19 | 11105220 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 19 | 11089551 | start lost | G/A;T | snv | 0.700 | 0 |