Source: ALL
| 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 | 1 | 11790682 | stop lost | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11790768 | missense variant | A/G;T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11790843 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11790853 | stop gained | CA/AC | mnv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 11790858 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11790895 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11790916 | intron variant | C/T | snv | 4.0E-06; 8.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11791206 | splice donor variant | C/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11791216 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11791235 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11791244 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 1995 | 2015 | |||||
|
3 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11792276 | splice donor variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 1 | 11792304 | missense variant | C/A;T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||||
|
1 | 1.000 | 1 | 11793905 | splice donor variant | A/C;G | snv | 4.1E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11793907 | splice region variant | C/T | snv | 4.9E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2013 | 2016 | ||||
|
1 | 1.000 | 1 | 11793921 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11794385 | synonymous variant | C/T | snv | 2.4E-05; 4.0E-06 | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11794401 | missense variant | A/G | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 1 | 11794437 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 11794443 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 1 | 11794540 | splice acceptor variant | T/- | del | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11794732 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 |