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 | 0.925 | 0.040 | 20 | 63439652 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 63442424 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127682423 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127651622 | inframe deletion | AAA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127678479 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 51768895 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 18604372 | frameshift variant | -/GACC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 33435225 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 45396550 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 45645575 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 26567655 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 26621403 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 19 | 13303831 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 49374576 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 20 | 63413471 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 50375876 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165309193 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 63407136 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 49374416 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 49374559 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv | 0.700 | 0 |