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 | 6 | 38722996 | missense variant | G/A;C | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 16 | 28491758 | start lost | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28482475 | splice donor variant | A/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28487664 | frameshift variant | -/A | ins | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 16 | 28482173 | missense variant | C/A;T | snv | 2.0E-05 | 0.800 | 1.000 | 4 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 28482182 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28482199 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28482309 | splice donor variant | CCTCGCTCCTCTTACCAGCGGTATTGC/- | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 28482472 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 28484003 | splice region variant | T/G | snv | 1.8E-04 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 28486393 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 28486401 | frameshift variant | -/A | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 28486438 | frameshift variant | C/-;CC | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28486449 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 28486455 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28486459 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 28486464 | missense variant | C/G | snv | 4.0E-06 | 0.810 | 1.000 | 5 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 28486465 | frameshift variant | CT/- | del | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.120 | 16 | 28486577 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 28486602 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 28491558 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28486626 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28486629 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28486639 | missense variant | C/G;T | snv | 4.2E-06 | 0.700 | 0 |