| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 8 | 86628994 | missense variant | A/C;T | snv | 5.9E-04; 4.4E-05 | 0.800 | 0 | |||||||
|
5 | 0.851 | 0.120 | 1 | 94098874 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94043443 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 1 | 94015766 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 94027444 | intron variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 94005469 | missense variant | C/T | snv | 3.1E-04 | 2.6E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 94021892 | missense variant | A/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 94031121 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 94063250 | frameshift variant | AG/- | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 1 | 94111453 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94055109 | splice donor variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 1 | 94077833 | missense variant | C/T | snv | 8.3E-04 | 8.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 1 | 94001069 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94011383 | splice region variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 94047039 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 197435035 | stop gained | G/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 94098993 | splice acceptor variant | T/A;C | snv | 4.2E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94055133 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94042878 | frameshift variant | -/AC | ins | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94044608 | splice region variant | C/T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 94060760 | splice acceptor variant | C/T | snv | 4.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 1 | 94063110 | splice donor variant | A/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 1 | 94046949 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 94019722 | missense variant | C/T | snv | 5.0E-04 | 7.4E-04 | 0.700 | 0 |