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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 0.700 | 1.000 | 6 | 2012 | 2018 | |||
|
2 | 1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins | 0.700 | 1.000 | 6 | 1999 | 2018 | |||||
|
2 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 0.700 | 1.000 | 6 | 2011 | 2016 | |||
|
3 | 0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 | 0.700 | 1.000 | 4 | 2013 | 2015 | ||||
|
2 | 1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 | 0.700 | 1.000 | 4 | 2006 | 2014 | |||
|
2 | 1.000 | 0.160 | 5 | 13839530 | splice acceptor variant | T/C | snv | 4.0E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2002 | 2016 | |||
|
1 | 5 | 13840968 | stop gained | G/A;C | snv | 2.8E-05; 8.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||||
|
1 | 3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 | 0.700 | 1.000 | 4 | 2011 | 2013 | |||||
|
1 | 7 | 21862024 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||||
|
1 | 17 | 80048762 | splice donor variant | G/A | snv | 4.4E-06 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||||
|
3 | 0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 | 0.700 | 1.000 | 3 | 2013 | 2014 | |||
|
1 | 7 | 21787584 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||||
|
1 | 17 | 80084989 | splice donor variant | G/T | snv | 0.700 | 1.000 | 3 | 2011 | 2013 | |||||||
|
2 | 1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 | 0.700 | 1.000 | 3 | 2006 | 2015 | |||
|
2 | 1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 | 0.700 | 1.000 | 3 | 2012 | 2015 | |||
|
2 | 1.000 | 0.120 | 17 | 80089763 | splice acceptor variant | G/A;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
3 | 0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
2 | 1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 | 0.700 | 1.000 | 3 | 2011 | 2013 | |||
|
2 | 1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2012 | 2014 | |||
|
3 | 0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins | 0.700 | 1.000 | 3 | 2014 | 2016 | |||||
|
2 | 1.000 | 0.120 | 3 | 180651496 | frameshift variant | T/- | delins | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2014 | ||||
|
4 | 0.925 | 0.080 | X | 38322921 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 1997 | 2000 | |||||
|
1 | 5 | 13770905 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||||
|
1 | 17 | 80050062 | splice acceptor variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2013 | |||||
|
2 | 1.000 | 0.160 | 17 | 74309345 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 | 0.700 | 1.000 | 3 | 2013 | 2015 |