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 | 0.320 | 16 | 53652844 | missense variant | T/G | snv | 6.4E-05 | 3.5E-05 | 0.700 | 1.000 | 7 | 2007 | 2015 | |||
|
5 | 0.827 | 0.360 | 16 | 53652637 | stop gained | G/A | snv | 6.4E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2007 | 2015 | |||
|
3 | 0.882 | 0.320 | 16 | 53652977 | frameshift variant | -/T | delins | 4.0E-05 | 1.8E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.200 | 16 | 53671539 | frameshift variant | -/A;AA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 16 | 53641052 | frameshift variant | A/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 16 | 53687912 | stop gained | T/A | snv | 4.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 16 | 53658793 | frameshift variant | TTTT/-;TTT;TTTTT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 16 | 53649068 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 16 | 53657545 | stop gained | C/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 16 | 53672927 | frameshift variant | G/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 16 | 53641364 | frameshift variant | AA/- | del | 8.0E-06 | 2.1E-05 | 0.700 | 0 |