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 | 0.200 | 11 | 77147888 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 77194384 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.200 | 11 | 77199792 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77205468 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77208706 | frameshift variant | -/TCAC | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 11 | 77199804 | frameshift variant | A/- | del | 8.3E-06 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
3 | 0.882 | 0.200 | 11 | 77190709 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.200 | 11 | 77205523 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77207343 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77211819 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77147796 | splice acceptor variant | A/C;G | snv | 8.3E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2016 | |||
|
2 | 0.925 | 0.200 | 11 | 77162118 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2005 | 2016 | |||||
|
2 | 0.925 | 0.200 | 11 | 77142707 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 1997 | 2009 | |||||
|
2 | 0.925 | 0.200 | 11 | 77213858 | splice acceptor variant | A/G | snv | 2.8E-05 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 77194352 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77166054 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77189342 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77208428 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 77156889 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77183092 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 11 | 77161030 | stop gained | A/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 77177600 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 11 | 77179039 | splice acceptor variant | AGGTCTAACTTTC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77194496 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||
|
2 | 0.925 | 0.200 | 11 | 77205611 | frameshift variant | C/- | delins | 1.6E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 2006 | 2011 |