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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 5 | 112839469 | missense variant | C/T | snv | 8.8E-05 | 1.0E-04 | 0.700 | 1.000 | 20 | 1991 | 2017 | |||
|
1 | 1.000 | 0.120 | 5 | 112767263 | missense variant | C/A;T | snv | 4.0E-06; 3.9E-04 | 0.700 | 1.000 | 11 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 5 | 112792444 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112835165 | splice region variant | -/GT | delins | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112843456 | missense variant | C/G | snv | 2.9E-03 | 3.5E-03 | 0.720 | 1.000 | 2 | 1997 | 2001 | |||
|
1 | 1.000 | 0.120 | 5 | 112840425 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 112774082 | intron variant | G/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 5 | 112723897 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 112815496 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 5 | 112839404 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839848 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 5 | 112767344 | stop gained | G/T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
1 | 1.000 | 0.120 | 5 | 112837671 | stop gained | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 5 | 112792474 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 5 | 112840786 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839999 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 112839048 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838544 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112843551 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112840254 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767293 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112819153 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 112838784 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112766393 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112766411 | splice donor variant | G/A | snv | 0.700 | 0 |