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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 1 | 17022723 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2012 | 2017 | |||
|
3 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2012 | |||||
|
3 | 0.925 | 0.080 | 1 | 17024017 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1982 | 2015 | |||||
|
3 | 0.925 | 0.080 | 1 | 17033147 | splice acceptor variant | T/G | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
3 | 0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 1 | 17027798 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
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 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17033125 | missense variant | T/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2014 | |||||
|
4 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||
|
4 | 0.882 | 0.080 | 1 | 17022689 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2014 |