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 | 0.080 | 11 | 2135446 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 56167307 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 56166383 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 65828082 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 65828078 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 2135365 | splice donor variant | -/GC | delins | 0.700 | 0 | ||||||||
|
13 | 0.752 | 0.200 | 11 | 62702493 | missense variant | G/A;C | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2015 | ||||
|
10 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2010 | ||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.240 | 11 | 2884119 | missense variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 50612776 | missense variant | T/C | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 50674515 | missense variant | G/A | snv | 5.6E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 |