| 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 | |||||||
|
2 | 1.000 | 0.160 | 7 | 21880869 | stop gained | C/G | snv | 6.1E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | 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 | ||||||
|
1 | 1.000 | 0.160 | 7 | 21765477 | missense variant | G/A;C | snv | 1.1E-02; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.160 | 7 | 21690844 | stop gained | C/T | snv | 8.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 7 | 21705497 | stop gained | C/A;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 21543595 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 21720738 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 21894930 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 7 | 21899355 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 7 | 21749750 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 21735706 | stop gained | -/TTG | delins | 0.700 | 0 |