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 | 16 | 57661707 | missense variant | C/T | snv | 8.1E-06 | 2.8E-05 | 0.810 | 1.000 | 7 | 2004 | 2017 | |||
|
1 | 1.000 | 0.080 | 16 | 57651247 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 6 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.080 | 16 | 57656244 | missense variant | T/A | snv | 0.800 | 1.000 | 6 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.080 | 16 | 57651407 | missense variant | G/C | snv | 0.800 | 1.000 | 6 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.080 | 16 | 57651398 | missense variant | A/G | snv | 0.800 | 1.000 | 6 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.080 | 16 | 57659594 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 6 | 2004 | 2014 | |||
|
1 | 1.000 | 0.080 | 16 | 57651248 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 6 | 2004 | 2014 | |||
|
1 | 1.000 | 0.080 | 16 | 57650297 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.925 | 0.080 | 16 | 57651421 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 16 | 57655528 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57654133 | missense variant | G/C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57656620 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57653985 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 16 | 57659534 | stop gained | C/G;T | snv | 2.8E-05; 4.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57659568 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57659616 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57659641 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57661882 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57663470 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57651400 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57653336 | splice donor variant | G/A | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57657420 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57655918 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 16 | 57655441 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |