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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 10 | 102834074 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 17 | 49404263 | 3 prime UTR variant | G/A;C;T | snv | 0.700 | 0 | ||||||||||
|
11 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 0.700 | 0 | |||||||
|
16 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
1 | 13 | 32340503 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 13 | 32370534 | frameshift variant | TTCAAAGA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 13 | 32376747 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 43094088 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.700 | 0 | |||||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 16 | 23634954 | frameshift variant | AA/-;A | delins | 1.8E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
12 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.080 | 2 | 214752472 | stop gained | G/A;C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.200 | 11 | 108343348 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 16 | 23623001 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.200 | 11 | 108317401 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 13 | 32338238 | stop gained | C/T | snv | 0.700 | 0 |