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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.240 | 15 | 72349160 | frameshift variant | GAACTCAT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 1 | 94098874 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 94019602 | frameshift variant | -/C | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 22 | 32518208 | missense variant | GG/AA | mnv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.160 | 4 | 182754413 | missense variant | C/A;G | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 14 | 21326029 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.280 | 17 | 7586699 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 0.700 | 0 | ||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.280 | 16 | 8801859 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 0.700 | 0 |