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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 1 | 11792304 | missense variant | C/A;T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11796205 | splice donor variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.280 | 1 | 11802962 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 | 0.810 | 1.000 | 8 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11795125 | missense variant | C/G;T | snv | 4.0E-06; 4.8E-05 | 0.700 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11802980 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11802941 | stop gained | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
2 | 0.925 | 1 | 11801166 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11794735 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11800250 | missense variant | C/T | snv | 6.0E-05 | 1.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11796399 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11794807 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
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 | 11802880 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 1 | 11800275 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
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 | 11791216 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11794765 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11794732 | missense variant | C/T | snv | 2.0E-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 | |||||||
|
3 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11790895 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11790853 | stop gained | CA/AC | mnv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.040 | 1 | 11794766 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.800 | 1.000 | 13 | 1995 | 2017 | |||
|
1 | 1.000 | 1 | 11791244 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 1995 | 2015 |