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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 2 | 127261248 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.160 | 19 | 45352223 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.400 | 19 | 45352511 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.851 | 0.400 | 19 | 45352802 | missense variant | G/A | snv | 5.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.925 | 0.240 | 19 | 45354774 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 19 | 45357295 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.400 | 19 | 45414870 | missense variant | G/A;C | snv | 1.2E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.400 | 10 | 49458898 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.400 | 10 | 49459235 | splice acceptor variant | C/G | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49460371 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49460453 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49461378 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.400 | 10 | 49461382 | frameshift variant | CT/- | del | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.400 | 10 | 49461463 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2016 | |||
|
3 | 0.882 | 0.400 | 10 | 49470181 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470332 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470346 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470352 | frameshift variant | -/AAGGTGGACCTTAAGCAGCCAGCCCT | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.400 | 10 | 49470367 | frameshift variant | -/TC | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49470424 | frameshift variant | T/- | del | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49470547 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470890 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49471085 | missense variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.400 | 10 | 49472461 | stop gained | G/A | snv | 4.0E-06 | 4.2E-05 | 0.700 | 1.000 | 1 | 1998 | 1998 |