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 | 0.160 | 7 | 107661637 | splice acceptor variant | A/G | snv | 1.2E-04 | 2.7E-04 | 0.700 | 1.000 | 4 | 2006 | 2015 | |||
|
1 | 1.000 | 0.160 | 7 | 107661644 | start lost | G/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.160 | 7 | 107661696 | frameshift variant | A/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 107661709 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.160 | 7 | 107661725 | missense variant | C/A;G | snv | 0.800 | 1.000 | 27 | 1997 | 2014 | |||||
|
4 | 0.882 | 0.240 | 7 | 107661726 | stop gained | G/C;T | snv | 9.3E-05; 6.2E-06 | 0.800 | 1.000 | 21 | 1997 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 107661783 | stop gained | G/A;T | snv | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 107661805 | splice donor variant | G/- | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 107661807 | splice donor variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663294 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2002 | 2005 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663301 | stop gained | C/A;G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 107663358 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2016 | ||||
|
3 | 0.925 | 0.160 | 7 | 107663366 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663380 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663390 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 2009 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107663400 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.710 | 1.000 | 4 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.160 | 7 | 107663410 | frameshift variant | T/- | del | 4.0E-06 | 3.5E-05 | 0.700 | 1.000 | 4 | 1999 | 2013 | |||
|
3 | 0.925 | 0.160 | 7 | 107663412 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 107663423 | frameshift variant | CACGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 107663435 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.160 | 7 | 107663437 | splice donor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.160 | 7 | 107672147 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 18 | 1997 | 2009 | ||||
|
2 | 0.925 | 0.160 | 7 | 107672182 | missense variant | C/T | snv | 3.3E-04 | 1.7E-04 | 0.800 | 1.000 | 22 | 1997 | 2017 | |||
|
1 | 1.000 | 0.160 | 7 | 107672182 | frameshift variant | C/- | del | 7.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.160 | 7 | 107672192 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2005 | 2013 |