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 | 0.160 | 2 | 120978500 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.160 | 2 | 120990568 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 120989172 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 120970438 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 120975064 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 120988708 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 120984672 | missense variant | G/A | snv | 5.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 2 | 120970408 | frameshift variant | CC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 120990575 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 2 | 120984744 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2003 | 2010 | |||||
|
2 | 0.925 | 0.160 | 2 | 120927402 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 120951309 | frameshift variant | G/- | delins | 0.700 | 0 |