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 | 1.000 | 0.040 | 7 | 94603332 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94628303 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 94628288 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 94603288 | splice donor variant | AC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94603382 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94603388 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94618801 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94618861 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94618868 | frameshift variant | AAAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94618950 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94623386 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94628292 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94603305 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94623345 | inframe insertion | -/TATCAAATT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94600844 | frameshift variant | GTTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94600798 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94618800 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 94603320 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 7 | 94600842 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 7 | 94603406 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 11 | 113416935 | missense variant | C/T | snv | 4.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.040 | 9 | 138058108 | missense variant | G/A | snv | 4.3E-04 | 4.2E-04 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 7 | 94618836 | missense variant | C/A;T | snv | 4.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 22 | 37057420 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 7 | 94598914 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2013 |