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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 2005 | 2015 | ||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024017 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1982 | 2015 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
4 | 0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 1 | 17053997 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17044771 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 11 | 2006 | 2015 | |||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 2003 | 2017 | ||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 | ||||
|
8 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 0.700 | 1.000 | 10 | 2006 | 2013 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
5 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 7 | 2007 | 2016 |