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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.280 | 17 | 61849155 | frameshift variant | TTCTT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
4 | 0.882 | 0.200 | 17 | 61684053 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61684053 | frameshift variant | TGTT/-;TGTTTGTT | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61776564 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61857233 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2016 | |||
|
4 | 0.851 | 0.120 | 17 | 61789868 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.200 | 17 | 61686167 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61847214 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61847222 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
2 | 0.925 | 0.080 | 17 | 61784279 | missense variant | T/A | snv | 3.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.200 | 17 | 61684099 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
4 | 0.882 | 0.280 | 17 | 61784388 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61715952 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61849158 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 61849196 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61857227 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61808665 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61780973 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61801435 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61716043 | frameshift variant | GTA/CAAAT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61857167 | stop gained | G/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 17 | 61859862 | missense variant | G/C;T | snv | 2.5E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 61683837 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 17 | 61715964 | stop gained | G/A;T | snv | 0.700 | 0 |