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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 19 | 55161684 | frameshift variant | -/A | delins | 7.3E-06; 7.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 34489343 | frameshift variant | -/AATA | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 16 | 84170172 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.160 | 6 | 116616786 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 14 | 49633935 | frameshift variant | -/CCACGCAGGTATCGTG | delins | 7.8E-06; 7.8E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 17 | 80089876 | frameshift variant | -/CTGT;TGT | ins | 3.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 17 | 44902466 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins | 0.700 | 1.000 | 2 | 1999 | 2013 | |||||
|
3 | 0.925 | 0.160 | 5 | 55233256 | frameshift variant | -/TGGGC | delins | 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 3 | 52353613 | missense variant | A/C | snv | 4.4E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.160 | 10 | 27862453 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 14 | 73689432 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.160 | 3 | 50342473 | missense variant | A/G | snv | 2.0E-04 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 19 | 55165904 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 26454783 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 6 | 116623002 | splice region variant | AAGT/- | delins | 2.7E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 8 | 100191455 | frameshift variant | AAGTA/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 21 | 32601941 | frameshift variant | AATA/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 5 | 55232446 | frameshift variant | AG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 132632763 | frameshift variant | C/- | delins | 1.8E-04 | 7.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | |||
|
1 | 1.000 | 0.160 | 14 | 49635119 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 |