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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 2 | 166228969 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
2 | 0.925 | 0.120 | 2 | 166288436 | splice donor variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 166288553 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
3 | 0.882 | 0.120 | 2 | 166204368 | stop gained | G/A;T | snv | 8.0E-06; 6.0E-05 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 166204359 | splice donor variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 166311498 | splice donor variant | C/T | snv | 4.3E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | |||
|
2 | 0.925 | 0.120 | 2 | 166294664 | splice acceptor variant | T/G | snv | 4.6E-05 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
3 | 0.925 | 0.120 | 2 | 166284785 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 1979 | 1979 | ||||
|
2 | 0.925 | 0.160 | 12 | 868697 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 2 | 166272731 | missense variant | G/A;C | snv | 1.8E-05; 4.4E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.120 | 2 | 166199288 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 2 | 166203996 | stop gained | C/T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 2 | 166280590 | frameshift variant | -/A | delins | 5.6E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 2 | 166280559 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 166198763 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 868772 | stop gained | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 868046 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 166284523 | stop gained | G/A;C | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 166280376 | stop gained | -/TTTGAATTCCTCAGTCATT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 166303231 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 166304286 | stop gained | G/A | snv | 6.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 868470 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 859428 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 166277280 | frameshift variant | A/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 |