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 | 0.120 | 6 | 7555815 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2014 | |||
|
2 | 0.925 | 0.120 | 6 | 7558171 | stop gained | GT/AA | mnv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.120 | 6 | 7562753 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 7565357 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
6 | 0.807 | 0.120 | 6 | 7565507 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
5 | 0.851 | 0.120 | 6 | 7565521 | splice donor variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2014 | ||||
|
2 | 0.925 | 0.120 | 6 | 7567802 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 6 | 7567819 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 7568435 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.120 | 6 | 7568448 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 7570444 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 6 | 7570553 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 6 | 7571554 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 6 | 7575294 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.120 | 6 | 7575355 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 7576388 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 7576457 | splice donor variant | G/T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
3 | 0.882 | 0.120 | 6 | 7576986 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 7579316 | frameshift variant | AC/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 6 | 7579323 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 7579431 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 7579479 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 6 | 7579527 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2013 | ||||
|
4 | 0.882 | 0.120 | 6 | 7579922 | frameshift variant | -/AAATCGA | delins | 0.700 | 0 |