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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
16 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
16 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
46 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 0.700 | 0 | ||||||||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
36 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
9 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 |