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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
3 | 1.000 | 0.200 | 17 | 7223993 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 21 | 46131981 | missense variant | G/A | snv | 5.9E-05 | 4.2E-05 | 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 | ||||||||||
|
25 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.080 | 14 | 23424876 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 19 | 38463499 | missense variant | G/A;T | snv | 1.7E-04; 8.0E-06 | 0.700 | 0 | |||||||||
|
5 | 1.000 | 0.120 | 11 | 22262162 | missense variant | G/A;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 | 0.700 | 0 | ||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 17 | 10533349 | stop gained | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 7 | 143351678 | stop gained | C/A;T | snv | 4.0E-06; 2.9E-03 | 0.700 | 0 | |||||||
|
3 | 12 | 101642495 | missense variant | G/A;C | snv | 3.2E-05 | 0.700 | 0 | |||||||||
|
25 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 0.700 | 0 |