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 | 0.040 | 11 | 68047480 | missense variant | G/A;C | snv | 7.2E-05 | 2.0E-04 | 0.800 | 1.000 | 4 | 2001 | 2012 | |||
|
1 | 1.000 | 0.040 | 11 | 68047672 | missense variant | G/A;T | snv | 1.2E-05; 2.0E-05 | 0.800 | 1.000 | 3 | 2001 | 2004 | ||||
|
1 | 1.000 | 0.040 | 11 | 68041392 | splice region variant | A/C;T | snv | 4.0E-05; 4.4E-05 | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 68049080 | splice acceptor variant | G/A | snv | 1.6E-04 | 1.9E-04 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.040 | 11 | 68050255 | splice donor variant | G/A | snv | 4.0E-06 | 3.5E-05 | 0.700 | 1.000 | 3 | 2001 | 2014 | |||
|
1 | 1.000 | 0.040 | 11 | 68049783 | stop gained | C/A;T | snv | 6.5E-05; 7.1E-05 | 0.700 | 1.000 | 3 | 2001 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 68043499 | splice donor variant | T/C | snv | 0.700 | 1.000 | 2 | 2001 | 2009 | |||||
|
1 | 1.000 | 0.040 | 11 | 68047543 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 68050254 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2015 | |||
|
1 | 1.000 | 0.040 | 11 | 68043654 | splice donor variant | G/C;T | snv | 4.3E-06 | 0.700 | 1.000 | 2 | 2001 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 68047564 | stop gained | C/T | snv | 4.8E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2004 | |||
|
1 | 1.000 | 0.040 | 11 | 68048883 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 68044961 | stop gained | G/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 11 | 68042684 | frameshift variant | CCCC/-;CCC | delins | 7.2E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 68045053 | frameshift variant | G/- | delins | 3.5E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 68049665 | frameshift variant | G/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 68043003 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 11 | 68047574 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 68041389 | splice donor variant | G/A | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.040 | 11 | 68044303 | stop gained | C/A;T | snv | 4.0E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 68039120 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 11 | 68042792 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 68047733 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 68043015 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 68047973 | splice donor variant | G/T | snv | 4.0E-06 | 0.700 | 0 |