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 | 0.160 | 10 | 97599194 | frameshift variant | C/- | delins | 4.0E-06 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 10 | 97584837 | missense variant | C/G;T | snv | 2.0E-05; 1.3E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97601990 | splice region variant | G/A;T | snv | 1.1E-04; 6.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97601855 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97599158 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 10 | 97584861 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 97584709 | frameshift variant | -/TGGTC | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97600165 | splice donor variant | T/A;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 | 0.800 | 1.000 | 5 | 2010 | 2012 | ||||
|
2 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.160 | 10 | 97584820 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 10 | 97584911 | stop gained | C/T | snv | 4.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 |