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 | 5 | 491904 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 38290282 | splice donor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 19 | 38290215 | missense variant | A/G | snv | 2.1E-04 | 1.4E-04 | 0.820 | 1.000 | 3 | 2009 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 38264893 | start lost | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 38290170 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 484519 | splice donor variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 38291839 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 38287937 | splice donor variant | T/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 38290229 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 81752245 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 5 | 483270 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 5 | 483376 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 491931 | inframe deletion | AGA/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 484520 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 484647 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 477347 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 484669 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 0 |