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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 | 0.700 | 0 | ||||||
|
21 | 0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
24 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
46 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 2 | 86232624 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 0 |