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 | 0.120 | 11 | 17388056 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 11 | 17387027 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17387927 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17396984 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 11 | 17397055 | missense variant | C/G;T | snv | 3.3E-04 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 11 | 17387320 | frameshift variant | -/GATGATC | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 11 | 17387373 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 11 | 17387726 | frameshift variant | AAGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 11 | 17387801 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17405547 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17388225 | 5 prime UTR variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 11 | 17387594 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17387891 | missense variant | C/G | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 17387224 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17388013 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 17387686 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 11 | 17387211 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17387226 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17387938 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17387652 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.120 | 11 | 17406924 | frameshift variant | GGT/CAGTTCCTGGCTG | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 11 | 17427865 | splice donor variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 11 | 17470224 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 11 | 17427144 | frameshift variant | TCAG/- | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 11 | 17410517 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 |