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 | 150510989 | missense variant | T/A | snv | 1.2E-05 | 3.5E-05 | 0.800 | 1.000 | 2 | 2002 | 2003 | |||
|
1 | 1.000 | 0.080 | 1 | 150511148 | missense variant | T/G | snv | 0.720 | 1.000 | 2 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 150511574 | stop gained | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 1 | 150510997 | frameshift variant | T/- | del | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2007 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 150510990 | frameshift variant | -/C | delins | 0.700 | 1.000 | 2 | 2002 | 2006 | |||||
|
1 | 1.000 | 0.080 | 1 | 150511475 | stop gained | C/A;T | snv | 4.0E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 1 | 150509553 | stop gained | GC/TT | mnv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 1 | 150511784 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 150509696 | stop gained | C/T | snv | 4.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 150510970 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 150513236 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 150511767 | frameshift variant | A/- | del | 5.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
10 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 150511490 | stop gained | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 150513285 | stop gained | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 1 | 150510879 | missense variant | C/T | snv | 0.34 | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 |