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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 14 | 67783020 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 67798080 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||
|
1 | 1.000 | 0.120 | 14 | 67754069 | splice donor variant | A/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 14 | 67797750 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 14 | 67782840 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 14 | 67775866 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 14 | 67807692 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.160 | 14 | 67782971 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.160 | 14 | 67777729 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 67793711 | frameshift variant | A/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 14 | 67794234 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 14 | 67802241 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67790775 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 67806544 | splice donor variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 67786113 | splice donor variant | C/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 67786235 | splice acceptor variant | T/C | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 67751050 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67752343 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67753706 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67754213 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67766231 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67769732 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67772046 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67772046 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 67772212 | splice acceptor variant | T/C | snv | 0.700 | 0 |