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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.683 | 0.440 | 17 | 7673775 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 7675237 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 7673838 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673535 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2018 | |||||
|
2 | 1.000 | 0.120 | 17 | 7675080 | missense variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2011 | 2017 | |||||
|
2 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2011 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 7675119 | stop gained | G/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 7675238 | splice acceptor variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 17 | 7669691 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 0.925 | 0.160 | 17 | 7675174 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2010 | 2014 | ||||
|
6 | 0.851 | 0.160 | 17 | 7674859 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2009 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 7676039 | frameshift variant | -/GAAACCG | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 7675100 | frameshift variant | CGTC/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 17 | 7675220 | missense variant | T/A | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
2 | 17 | 7675221 | missense variant | T/A | snv | 0.700 | 1.000 | 2 | 2008 | 2013 | |||||||
|
4 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 2007 | 2016 | |||||
|
6 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
2 | 1.000 | 0.120 | 17 | 7674212 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
15 | 0.742 | 0.320 | 17 | 7674252 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.200 | 17 | 7676096 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.120 | 17 | 7675098 | missense variant | C/A | snv | 0.700 | 1.000 | 5 | 2005 | 2016 |