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 | 0.120 | 2 | 232542992 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.800 | 1.000 | 2 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 2 | 232540681 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 232539760 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 2 | 232541424 | frameshift variant | CT/- | del | 7.6E-05 | 1.0E-04 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 2 | 232545570 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 232540072 | stop gained | C/T | snv | 5.6E-05; 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 2 | 232540387 | stop gained | C/A;T | snv | 8.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 232541451 | missense variant | C/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 2 | 232543030 | frameshift variant | CT/- | del | 2.6E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 232541481 | frameshift variant | -/A | delins | 3.5E-04 | 4.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 232540660 | inframe insertion | -/AGGGTGCCG | delins | 0.700 | 0 |