| 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 | 12 | 64464419 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 12 | 64481945 | missense variant | C/A | snv | 3.1E-04 | 1.7E-04 | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 12 | 64488532 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 12 | 64488489 | frameshift variant | TTAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 12 | 64466962 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 12 | 64497987 | missense variant | G/A | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 12 | 64481987 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 64485466 | missense variant | A/G | snv | 4.4E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 12 | 64484380 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 64495767 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 64486018 | splice donor variant | G/A | snv | 4.7E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 64481943 | missense variant | T/C | snv | 2.0E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 64488580 | frameshift variant | TG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 64498041 | splice donor variant | T/C | snv | 0.700 | 0 |