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 | 0.120 | 2 | 44942611 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 44942489 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 44942780 | missense variant | C/G | snv | 0.800 | 1.000 | 6 | 1999 | 2010 | |||||
|
2 | 0.925 | 0.120 | 2 | 44942874 | missense variant | G/C | snv | 0.800 | 1.000 | 6 | 1999 | 2010 | |||||
|
2 | 0.925 | 0.120 | 2 | 44942853 | missense variant | T/C | snv | 0.800 | 1.000 | 6 | 1999 | 2010 | |||||
|
1 | 1.000 | 0.120 | 2 | 44942310 | missense variant | G/A | snv | 1.0E-04 | 1.6E-04 | 0.700 | 1.000 | 6 | 1999 | 2010 | |||
|
1 | 1.000 | 0.120 | 2 | 44942443 | missense variant | G/T | snv | 0.800 | 1.000 | 6 | 1999 | 2010 | |||||
|
1 | 1.000 | 0.120 | 2 | 44944651 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2010 | |||
|
1 | 1.000 | 0.120 | 2 | 44942834 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 44942544 | frameshift variant | CCTCTACCACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 99983000 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 44942800 | frameshift variant | CCCCAGCAAG/- | del | 0.700 | 0 |