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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 17 | 59061086 | missense variant | C/A | snv | 0.810 | 1.000 | 8 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 59084045 | missense variant | C/G | snv | 0.800 | 1.000 | 8 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 59088345 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 8 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 59088391 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 59028460 | frameshift variant | C/- | delins | 3.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 17 | 59057033 | frameshift variant | -/ATCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 59049361 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 59049297 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 59031949 | frameshift variant | CT/- | delins | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 17 | 59028616 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 59064406 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 59064373 | frameshift variant | AAGTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 59064355 | missense variant | C/T | snv | 8.6E-06 | 0.700 | 0 |