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 | 1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 | 0.700 | 1.000 | 8 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.280 | 11 | 108327665 | frameshift variant | -/A | delins | 0.700 | 1.000 | 8 | 1998 | 2016 | |||||
|
4 | 0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins | 0.700 | 1.000 | 7 | 2002 | 2014 | |||||
|
3 | 0.925 | 0.200 | 13 | 32336936 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2014 | ||||
|
4 | 0.882 | 0.280 | 13 | 32398184 | frameshift variant | -/A | delins | 0.700 | 1.000 | 7 | 1999 | 2016 | |||||
|
2 | 1.000 | 0.200 | 11 | 108267204 | frameshift variant | -/A | delins | 0.700 | 1.000 | 5 | 1998 | 2012 | |||||
|
2 | 1.000 | 0.120 | 17 | 61715948 | splice donor variant | -/A | delins | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2004 | 2016 | |||
|
3 | 0.925 | 0.200 | 13 | 32338103 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 2002 | 2016 | |||||
|
5 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
2 | 1.000 | 0.200 | 11 | 108326152 | frameshift variant | -/A | delins | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2012 | |||
|
3 | 0.925 | 0.200 | 13 | 32340035 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2006 | 2019 | |||||
|
2 | 1.000 | 0.120 | 5 | 112838397 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 1999 | 2017 | |||||
|
2 | 1.000 | 0.200 | 11 | 108272537 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 1998 | 2005 | |||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2005 | 2009 | |||||
|
1 | 17 | 35103497 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||||
|
2 | 1.000 | 0.080 | 16 | 23622982 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2007 | 2015 | |||||
|
3 | 1.000 | 0.160 | 2 | 47806453 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2010 | 2016 | |||||
|
2 | 1.000 | 0.200 | 11 | 108365415 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2000 | 2011 | |||||
|
3 | 1.000 | 0.160 | 2 | 47804946 | stop gained | -/A | delins | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
2 | 1.000 | 0.080 | 10 | 87957958 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
1 | 17 | 35119611 | frameshift variant | -/A | delins | 4.1E-06 | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||||
|
3 | 0.925 | 0.200 | 17 | 43091771 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 1998 | 2013 | |||||
|
2 | 1.000 | 17 | 43099827 | frameshift variant | -/A | delins | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2018 | |||||
|
2 | 1.000 | 0.080 | 16 | 23626297 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
3 | 1.000 | 0.160 | 7 | 5989867 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2008 | 2016 |