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 | 3 | 128481845 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.040 | 3 | 128481881 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.040 | 3 | 128483288 | intron variant | G/A | snv | 0.700 | 1.000 | 4 | 2013 | 2016 | |||||
|
6 | 0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.040 | 3 | 128483868 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 128481877 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 3 | 128481275 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 3 | 128481878 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 128485944 | stop gained | -/GTCAG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 128483973 | frameshift variant | -/TGGCCCCACAGTTG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 128485779 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 128481849 | missense variant | G/A;T | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 3 | 128481880 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 128481836 | frameshift variant | -/GAGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 128481937 | splice acceptor variant | -/GCCG | delins | 0.700 | 0 |