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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2006 | 2014 | ||||
|
5 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 19 | 2001 | 2017 | |||
|
5 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2006 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033060 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 1990 | 2013 | |||
|
3 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17027748 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17028736 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 17028727 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 1 | 17022689 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2014 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 2003 | 2015 | |||
|
7 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||
|
3 | 0.925 | 0.080 | 1 | 17027784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 17027787 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 2001 | 2014 | ||||
|
5 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 10 | 2003 | 2017 | ||||
|
4 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||
|
4 | 0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
6 | 0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 | 0.700 | 0 |