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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
3 | 1.000 | 0.080 | X | 150598681 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 4 | 5634585 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 13 | 64923076 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 132440647 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 38505868 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178571565 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 22270443 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | X | 32343174 | stop gained | A/C | snv | 0.700 | 0 | ||||||||||
|
3 | 1 | 155140104 | missense variant | A/T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 178671132 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
25 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 9 | 36217448 | missense variant | C/A;T | snv | 8.9E-04; 1.7E-03 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 19 | 10793829 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.200 | 11 | 22221100 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 15 | 42387891 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 39665391 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.120 | 8 | 22162694 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | MT | 15990 | non coding transcript exon variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 4365 | non coding transcript exon variant | -/A | delins | 0.700 | 0 |