| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 4 | 154589513 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 4 | 186274198 | stop gained | C/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 1.000 | 0.080 | 4 | 154611883 | missense variant | G/C | snv | 1.9E-03 | 2.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 4 | 186286490 | stop gained | G/A;C | snv | 3.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 13 | 113118668 | missense variant | C/T | snv | 5.6E-04 | 3.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 1.000 | 0.080 | 4 | 154568456 | missense variant | C/T | snv | 2.4E-03 | 2.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | 12 | 6044361 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | 12 | 6044298 | frameshift variant | G/-;GG | delins | 6.3E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 186274190 | stop gained | C/T | snv | 2.8E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 17 | 47299316 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
2 | 17 | 47286394 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.080 | 12 | 6019297 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 17 | 35557404 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 17 | 35557406 | missense variant | T/A | snv | 0.700 | 0 |