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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.160 | 17 | 65536554 | splice acceptor variant | C/T | snv | 8.2E-06 | 0.700 | 1.000 | 2 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.160 | 17 | 65537837 | splice acceptor variant | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.160 | 17 | 65536555 | splice acceptor variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2011 | |||
|
1 | 1.000 | 0.160 | 17 | 65534008 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 17 | 65537390 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 65537399 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 65558426 | frameshift variant | CG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 65536954 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 65558387 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 17 | 65536467 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 65537394 | stop gained | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 65537821 | frameshift variant | CTCT/-;CT | delins | 5.4E-06 | 7.0E-06 | 0.700 | 0 |