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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 0.700 | 1.000 | 11 | 2001 | 2014 | |||||
|
2 | 0.925 | 0.200 | 2 | 47408456 | frameshift variant | -/AAGATCTTCTTCTGGTTCGTCA | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 3 | 37020309 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37000952 | splice region variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 3 | 37001058 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37011867 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37048515 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 2 | 47414344 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 2 | 47475066 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37025979 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |