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 | 0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 0.160 | 13 | 35550528 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 19 | 7526579 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
6 | 0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 3 | 70977675 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | X | 51744647 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 47848246 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 10 | 87933229 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 |