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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.720 | 1.000 | 8 | 1997 | 2015 | |||||
|
9 | 0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1999 | 2017 | |||||
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1975 | 2014 | ||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2007 | 2017 | |||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 1997 | 2013 | ||||
|
11 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.160 | 1 | 40307477 | missense variant | T/A;C;G | snv | 0.020 | 0.500 | 2 | 2018 | 2018 | |||||
|
12 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87952260 | splice donor variant | G/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 1 | 40307478 | stop gained | G/A;T | snv | 3.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 1 | 102888618 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 1 | 40307451 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.160 | 10 | 87952264 | splice region variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87931094 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87933252 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87952263 | splice region variant | A/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.160 | 21 | 26953456 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.200 | 8 | 23201811 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
14 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |