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 | 0.925 | 0.200 | 17 | 35106406 | stop gained | G/A | snv | 4.0E-05 | 2.8E-05 | 0.700 | 1.000 | 8 | 2011 | 2018 | |||
|
4 | 0.882 | 0.200 | 17 | 35103298 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 7 | 2012 | 2017 | ||||
|
6 | 0.882 | 0.200 | 17 | 35103501 | missense variant | G/A;C | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2006 | 2017 | |||
|
2 | 1.000 | 17 | 35107439 | frameshift variant | -/AT | delins | 5.6E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 35101206 | stop gained | G/A | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 2012 | 2017 | |||
|
1 | 17 | 35103497 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||||
|
1 | 17 | 35119611 | frameshift variant | -/A | delins | 4.1E-06 | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||||
|
2 | 1.000 | 17 | 35106990 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||
|
2 | 1.000 | 17 | 35101347 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 1.000 | 17 | 35101038 | splice acceptor variant | T/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 17 | 35118500 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
3 | 0.925 | 0.200 | 17 | 35119613 | start lost | T/A;C;G | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 35101356 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 17 | 35107376 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1982 | 2005 | |||||||
|
2 | 1.000 | 17 | 35101301 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 17 | 35106398 | frameshift variant | A/- | del | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||||
|
1 | 17 | 35103546 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 17 | 35107017 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 35119114 | stop gained | -/TT | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.200 | 17 | 35107105 | frameshift variant | T/- | del | 1.6E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 17 | 35103466 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 17 | 35103472 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 17 | 35107364 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 17 | 35119533 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 35101326 | frameshift variant | CTCCCGC/- | delins | 0.700 | 0 |