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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 1 | 27358259 | missense variant | G/A;T | snv | 5.0E-03 | 4.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
17 | 0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2006 | 2019 | |||||
|
2 | 1.000 | 0.080 | 16 | 68812263 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 11 | 2006 | 2016 | |||||
|
2 | 1.000 | 0.080 | 16 | 68812264 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 11 | 1999 | 2018 | |||
|
2 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 10 | 2002 | 2016 | |||||
|
2 | 1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/- | del | 0.700 | 1.000 | 8 | 2002 | 2016 | |||||
|
5 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 0.700 | 1.000 | 8 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68811682 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 7 | 2008 | 2012 | |||||
|
2 | 1.000 | 0.080 | 16 | 68737418 | start lost | G/A | snv | 0.700 | 1.000 | 7 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv | 0.700 | 1.000 | 6 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins | 0.700 | 1.000 | 6 | 2004 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68810240 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 68737416 | start lost | A/G | snv | 0.700 | 1.000 | 5 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68801885 | frameshift variant | C/- | delins | 0.700 | 1.000 | 5 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1994 | 2016 | |||||
|
1 | 1.000 | 0.080 | 16 | 68812149 | stop gained | T/C;G | snv | 3.6E-05 | 0.700 | 1.000 | 5 | 2010 | 2018 | ||||
|
2 | 1.000 | 0.080 | 16 | 68829753 | frameshift variant | C/- | delins | 0.700 | 1.000 | 5 | 2007 | 2014 | |||||
|
2 | 1.000 | 0.080 | 16 | 68810342 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2015 | ||||
|
2 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | -/T;TT | delins | 0.700 | 1.000 | 4 | 2008 | 2014 | |||||
|
2 | 1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins | 0.700 | 1.000 | 4 | 1999 | 2018 | |||||
|
4 | 1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 | 0.710 | 1.000 | 4 | 2005 | 2013 |