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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 18 | 2005 | 2018 | ||||
|
6 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 14 | 2001 | 2017 | ||||
|
8 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 0.700 | 1.000 | 11 | 2001 | 2015 | |||||
|
3 | 0.925 | 0.080 | 11 | 61437820 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1981 | 2017 | |||||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2016 | ||||
|
10 | 0.776 | 0.280 | 11 | 112088939 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2000 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 2002 | 2012 | |||||
|
4 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2009 | 2016 | ||||
|
8 | 0.882 | 0.080 | 1 | 161356832 | stop gained | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 2007 | 2016 | |||
|
6 | 0.827 | 0.240 | 11 | 112087916 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2000 | 2012 | ||||
|
5 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 2008 | 2014 | |||
|
2 | 0.925 | 0.080 | 1 | 17033086 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2001 | 2012 | |||||
|
6 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2001 | 2013 | |||||
|
1 | 1.000 | 0.080 | 14 | 65077980 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 1992 | 1995 | |||||
|
3 | 0.925 | 0.080 | 14 | 65077985 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
3 | 0.925 | 0.080 | 14 | 65093782 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
4 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 96254056 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2012 | |||
|
2 | 1.000 | 0.080 | 2 | 96254061 | stop gained | A/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 3 | 2010 | 2016 | |||
|
3 | 0.925 | 0.080 | 2 | 96265262 | frameshift variant | ACAG/- | delins | 2.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 96254998 | splice acceptor variant | C/A;G | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 2 | 2007 | 2008 | |||||
|
1 | 1.000 | 0.080 | 11 | 61437849 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 96254934 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 17024062 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 |