| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 15 | 45101228 | frameshift variant | ACGA/- | delins | 2.9E-03 | 2.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 15 | 45106906 | frameshift variant | G/- | del | 5.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 15 | 45108887 | stop gained | G/A;C | snv | 6.8E-05 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 0.925 | 0.120 | 15 | 45103960 | missense variant | C/A;T | snv | 4.1E-04; 1.2E-04 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 15 | 45095881 | missense variant | G/A | snv | 5.9E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 15 | 45108159 | missense variant | C/G;T | snv | 4.0E-06; 1.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 15 | 45106254 | frameshift variant | -/T | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 15 | 45106327 | missense variant | G/A;T | snv | 3.2E-05; 6.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 15 | 45099838 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 15 | 45097691 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 15 | 45106225 | missense variant | C/A;T | snv | 3.4E-04; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |