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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.240 | X | 18575383 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | X | 18584332 | missense variant | G/A;C | snv | 0.700 | 1.000 | 9 | 2005 | 2018 | |||||
|
6 | 0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2008 | 2017 | |||||
|
2 | 0.925 | 0.160 | X | 18588058 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||
|
1 | 1.000 | 0.160 | X | 18588037 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 18575405 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 18628701 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.160 | X | 18575491 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | X | 18587982 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | X | 18604599 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.200 | X | 18619932 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.160 | X | 18628590 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | X | 18579918 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | X | 18603930 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18598460 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18608887 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | X | 18581942 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 18628374 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18510844 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18575384 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18575452 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18581940 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18584307 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18584354 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18588011 | frameshift variant | -/GCGA | delins | 0.700 | 0 |