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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | X | 154030628 | splice acceptor variant | TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- | delins | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
9 | 0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 0.700 | 1.000 | 5 | 2007 | 2012 | |||||
|
7 | 0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 1999 | 2012 | |||||
|
19 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 8 | 2000 | 2013 | ||||
|
2 | 0.925 | 0.080 | X | 154030519 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 5 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154030479 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 2000 | 2013 | |||||
|
2 | 0.925 | 0.080 | X | 154031446 | stop gained | G/A;C | snv | 0.700 | 1.000 | 8 | 1999 | 2014 | |||||
|
9 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.700 | 1.000 | 7 | 1999 | 2014 | |||||
|
2 | 0.925 | 0.080 | X | 154031427 | missense variant | G/A;C | snv | 0.700 | 1.000 | 11 | 2000 | 2015 | |||||
|
17 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 1975 | 2015 | |||||
|
2 | 0.925 | 0.080 | X | 154031360 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2001 | 2015 | |||||
|
9 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 11 | 2000 | 2016 | |||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 1999 | 2016 | |||||
|
14 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 10 | 2000 | 2016 | ||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 2000 | 2016 | |||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 8 | 2000 | 2016 | ||||
|
3 | 0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv | 0.700 | 1.000 | 8 | 2000 | 2016 | |||||
|
5 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2001 | 2016 |