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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.810 | 1.000 | 9 | 1997 | 2016 | |||
|
3 | 0.882 | 0.360 | 7 | 92504812 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 0 | 1997 | 2005 | ||||
|
3 | 0.882 | 0.360 | 7 | 92494357 | missense variant | A/G;T | snv | 7.2E-05; 4.0E-06 | 0.800 | 1.000 | 0 | 1997 | 2005 | ||||
|
4 | 0.882 | 0.360 | 7 | 92503169 | frameshift variant | -/A | delins | 5.0E-04 | 5.1E-04 | 0.700 | 1.000 | 7 | 1999 | 2017 | |||
|
4 | 0.882 | 0.360 | 7 | 92494331 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.240 | 7 | 92506306 | frameshift variant | T/- | delins | 1.6E-05 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.240 | 7 | 92504768 | frameshift variant | TG/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.240 | 7 | 92491503 | splice acceptor variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.240 | 7 | 92517968 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.240 | 7 | 92528434 | start lost | A/C;G | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.240 | 7 | 92522246 | splice acceptor variant | C/A;G | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 7 | 92511008 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92504882 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 7 | 92517439 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92489776 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92503130 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92510943 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92499805 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92494553 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92504895 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92518256 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92489803 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92494538 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 7 | 92494614 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 7 | 92499736 | stop gained | G/A | snv | 0.700 | 0 |