| 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 | 0.080 | 3 | 132708219 | missense variant | T/C | snv | 1.9E-03 | 2.1E-03 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 3 | 132683433 | missense variant | G/A | snv | 2.7E-04 | 1.1E-04 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 3 | 132708186 | missense variant | C/T | snv | 1.2E-04 | 2.8E-05 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 3 | 132719800 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 132684702 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 3 | 132683487 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 132682077 | inframe deletion | CCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132713165 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132704341 | stop gained | C/A | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 132682759 | missense variant | G/C | snv | 7.0E-04 | 6.4E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 3 | 132708202 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.240 | 3 | 132699988 | stop gained | C/A;T | snv | 8.0E-06; 5.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 132696798 | stop gained | G/A | snv | 4.8E-05 | 1.0E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 132681962 | missense variant | C/G;T | snv | 1.6E-03 | 0.700 | 0 |