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 | 0.160 | 10 | 49474074 | missense variant | A/G;T | snv | 0.800 | 1.000 | 5 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.160 | 10 | 49482798 | stop gained | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.160 | 10 | 49473613 | intron variant | T/C;G | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 10 | 49505892 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.160 | 10 | 49500673 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49461393 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49524457 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49530716 | splice region variant | T/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 49472377 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 49524150 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49483487 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49482857 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49470347 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49461431 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 49460428 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49524579 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.400 | 10 | 49482689 | stop gained | G/A | snv | 6.4E-05 | 9.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.160 | 10 | 49532736 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.400 | 10 | 49505883 | splice donor variant | C/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.400 | 10 | 49530797 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.240 | 10 | 49482818 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 1998 | 2017 | |||||
|
3 | 0.882 | 0.400 | 10 | 49524421 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49470367 | frameshift variant | -/TC | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49474065 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.400 | 10 | 49524295 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |