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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17387902 | missense variant | C/A | snv | 4.8E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 11 | 17387027 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 44149772 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.080 | 7 | 44149763 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 11 | 17387320 | frameshift variant | -/GATGATC | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 11 | 17387373 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 11 | 17387726 | frameshift variant | AAGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 11 | 17387801 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17395652 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17402718 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17474884 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 2160946 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 44145176 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 17393122 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 11 | 17387548 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17387337 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 11 | 17387103 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17387095 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 11 | 17387091 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17474919 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17470109 | missense variant | A/G | snv | 0.700 | 0 |