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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 16 | 28484003 | splice region variant | T/G | snv | 1.8E-04 | 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 | 28491558 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.800 | 1.000 | 10 | 1997 | 2013 | |||
|
3 | 0.882 | 0.120 | 16 | 28482500 | stop gained | C/A;T | snv | 2.4E-05 | 0.820 | 1.000 | 6 | 1997 | 2015 | ||||
|
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 | 28491477 | splice region variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 28486663 | non coding transcript exon variant | C/A;G;T | snv | 4.5E-06; 1.3E-05 | 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 | 28477818 | stop gained | G/A;C | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 28482107 | stop gained | G/A | snv | 8.1E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
1 | 1.000 | 0.120 | 16 | 28477636 | splice acceptor variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 28477565 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28491759 | start lost | T/C;G | snv | 8.0E-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 | 28486639 | missense variant | C/G;T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28489387 | splice acceptor variant | C/T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
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 | 28486438 | frameshift variant | C/-;CC | delins | 4.1E-06 | 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 | ||||
|
3 | 0.882 | 0.120 | 16 | 28486427 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 28486393 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 28482161 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 28487662 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 |