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 | 9 | 36249325 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2004 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36217412 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 36234009 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36236879 | missense variant | A/C;G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2011 | |||
|
1 | 1.000 | 0.120 | 9 | 36249334 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246262 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 36227271 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | |||
|
1 | 1.000 | 0.120 | 9 | 36233986 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36222866 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 36236964 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 9 | 36219873 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 36222925 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246030 | splice donor variant | C/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 36217541 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 9 | 36246035 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 36223478 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 36227371 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36222794 | frameshift variant | AACAAAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36223372 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36223501 | splice acceptor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36234046 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36236946 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36246209 | frameshift variant | TAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36222993 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36217511 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 |