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 | 0.080 | 1 | 209650070 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 104036490 | splice donor variant | A/- | del | 2.5E-04 | 0.700 | 1.000 | 3 | 1999 | 2004 | ||||
|
1 | 1.000 | 0.080 | 1 | 209630654 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 104041526 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 209629852 | stop gained | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 209633136 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 209627425 | frameshift variant | ACACG/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 209618519 | frameshift variant | C/- | delins | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2006 | 2015 | |||
|
1 | 1.000 | 0.080 | 10 | 104043852 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 1997 | 2011 | ||||
|
3 | 0.882 | 0.080 | 1 | 209628034 | splice donor variant | C/A;T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 209633102 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 1998 | 2007 | |||||
|
2 | 0.925 | 0.080 | 18 | 23915298 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 10 | 104034193 | missense variant | C/T | snv | 1.1E-04 | 1.5E-04 | 0.700 | 1.000 | 5 | 1996 | 2002 | |||
|
2 | 0.925 | 0.080 | 10 | 104053072 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 1996 | 2002 | |||||
|
2 | 0.925 | 0.080 | 1 | 209633070 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 2 | 1998 | 2007 | ||||
|
2 | 0.925 | 0.080 | 1 | 183243272 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 183222181 | stop gained | C/T | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 23939322 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 209632777 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 18 | 23939301 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 10 | 104043576 | splice acceptor variant | CCCTCTGAAAAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 75742591 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 10 | 104080649 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.080 | 10 | 104034711 | stop gained | G/A | snv | 2.1E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 10 | 104038409 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 |