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 | X | 137567436 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567446 | stop gained | C/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 137567659 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567495 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567448 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567454 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567166 | frameshift variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137566819 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567225 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567282 | frameshift variant | CATACCGCCCAGTGGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567455 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 137567449 | missense variant | G/C | snv | 0.800 | 1.000 | 6 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 137569054 | missense variant | A/G | snv | 0.800 | 1.000 | 6 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 137567340 | missense variant | C/G | snv | 1.5E-03 | 6.4E-03 | 0.700 | 1.000 | 6 | 1997 | 2014 | |||
|
1 | 1.000 | 0.120 | X | 137567017 | missense variant | C/G | snv | 2.8E-05 | 1.4E-04 | 0.700 | 1.000 | 3 | 2004 | 2014 | |||
|
6 | 0.851 | 0.120 | 4 | 139874173 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.120 | 1 | 118360355 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 |