| 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 | 7 | 100806499 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 7 | 100806485 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
1 | 1.000 | 7 | 100806539 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
1 | 1.000 | 7 | 100823834 | missense variant | C/G;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
1 | 1.000 | 7 | 100812899 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
1 | 1.000 | 7 | 100805667 | missense variant | G/A;C | snv | 1.1E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||
|
1 | 1.000 | 7 | 100805589 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
1 | 1.000 | 7 | 100817234 | missense variant | C/T | snv | 1.3E-05 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
1 | 1.000 | 7 | 100812875 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 7 | 100806486 | stop gained | G/A;C | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 7 | 100807526 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 7 | 100822446 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 100822508 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 100826998 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 100806419 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 |