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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 9 | 37228393 | intron variant | T/A;C | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 73346464 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 162633261 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 61824164 | intron variant | C/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 7225691 | intergenic variant | G/A;C | snv | 8.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 122178340 | intron variant | G/A | snv | 8.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 74318710 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |