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 | 11 | 17387548 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.120 | 11 | 17413396 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 6 | 29673282 | missense variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2000 | 2008 | |||||
|
1 | 1.000 | 0.120 | 6 | 38786848 | missense variant | C/T | snv | 6.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 6 | 29673362 | missense variant | C/T | snv | 4.1E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 6 | 29672739 | missense variant | G/C | snv | 0.800 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 6 | 29675420 | frameshift variant | TCTC/-;TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 29672728 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 29673206 | frameshift variant | GTGCCTGG/- | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 29673328 | stop gained | G/A;T | snv | 3.6E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 29673368 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 0 |