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 | 0.120 | 17 | 42543817 | missense variant | C/T | snv | 1.3E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1.000 | 0.120 | 17 | 42541119 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 17 | 42543603 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 17 | 42536484 | frameshift variant | GCGCGTGCGGGTGCGCGGC/- | delins | 8.6E-05 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
1 | 1.000 | 0.120 | 17 | 42536630 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 42536465 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 17 | 42536491 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 17 | 42541049 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 17 | 42537517 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
21 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 17 | 42544122 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.120 | 17 | 42543680 | stop gained | C/G;T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 17 | 42537397 | splice acceptor variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 17 | 42543452 | frameshift variant | -/T | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
1 | 1.000 | 0.120 | 17 | 42537494 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42543949 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42536274 | start lost | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543068 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42541127 | missense variant | C/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42543360 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42544068 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42543431 | frameshift variant | G/- | del | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42541111 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42543396 | stop gained | C/T | snv | 1.3E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 42543466 | frameshift variant | -/C | delins | 7.0E-06 | 0.700 | 0 |