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 | 0.200 | 17 | 61776487 | frameshift variant | -/A | delins | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 2006 | 2018 | |||
|
4 | 0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 17 | 61861484 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 17 | 61715978 | frameshift variant | -/A | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61744483 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61686008 | frameshift variant | -/A | delins | 4.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 17 | 61808494 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61801374 | frameshift variant | -/AG | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61776412 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61744467 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61801282 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61780936 | stop gained | -/GTTGTTGAAATATCAATTTGATATA | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61784303 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 17 | 61849195 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61857075 | frameshift variant | -/TGCC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61683838 | frameshift variant | A/- | del | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.200 | 17 | 61847180 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61808545 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61744556 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61780843 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61861510 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61808752 | frameshift variant | A/- | del | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 61808519 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61683816 | stop gained | A/C | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2011 |