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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 10 | 53995732 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107663412 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107710192 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 13 | 20189523 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 69959325 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
1 | 7 | 107663430 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 0 | |||||||||
|
1 | 2 | 26476319 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
6 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | X | 110264571 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.080 | 9 | 87969919 | stop gained | C/G;T | snv | 4.9E-06 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 71617295 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 13 | 20189487 | missense variant | C/A;T | snv | 3.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 13 | 20189256 | frameshift variant | CTTGATGAACTTCC/- | delins | 1.5E-04 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.280 | 13 | 20188965 | missense variant | T/C | snv | 9.6E-05 | 1.8E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 13 | 20189413 | stop gained | G/A | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 7 | 107690200 | missense variant | G/A;C | snv | 1.0E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107698112 | splice donor variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 |