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 | 17022615 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||||
|
5 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 16 | 2004 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 9 | 2004 | 2015 | |||||
|
3 | 0.925 | 0.080 | 1 | 17022654 | frameshift variant | GAGA/- | delins | 0.700 | 1.000 | 3 | 2002 | 2007 | |||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2005 | 2009 | |||||
|
1 | 1 | 17022660 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2005 | 2017 | ||||
|
5 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 9 | 2003 | 2012 | |||
|
1 | 1 | 17022719 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 17022720 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
4 | 0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2016 | ||||
|
1 | 1 | 17022731 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 17023967 | splice donor variant | CCTCACC/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 1 | 17023972 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 17023973 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2006 | 2015 | |||||||
|
7 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||
|
1 | 1 | 17023976 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 1 | 17023981 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
1 | 1 | 17024005 | frameshift variant | -/GTTCC | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17024009 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17024011 | frameshift variant | TCCACCAGTA/CC | delins | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 13 | 2006 | 2018 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2005 | 2009 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2001 | 2015 |