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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.320 | 11 | 68780662 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 | 0.800 | 1.000 | 9 | 1998 | 2011 | |||
|
2 | 0.925 | 0.160 | 11 | 68760238 | missense variant | C/T | snv | 8.1E-06 | 0.800 | 1.000 | 9 | 1998 | 2004 | ||||
|
1 | 1.000 | 0.080 | 11 | 68760241 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68793341 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68784909 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 8 | 1998 | 2004 | |||
|
1 | 1.000 | 0.080 | 11 | 68780737 | missense variant | T/C | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68784951 | missense variant | A/C | snv | 1.2E-05 | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||
|
1 | 1.000 | 0.080 | 11 | 68780705 | missense variant | C/A;T | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68784899 | missense variant | T/C | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68793370 | missense variant | G/A;C | snv | 8.1E-06 | 0.800 | 1.000 | 8 | 1998 | 2004 | ||||
|
1 | 1.000 | 0.080 | 11 | 68781882 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68780647 | missense variant | A/G | snv | 0.800 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68807553 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2004 | |||
|
1 | 1.000 | 0.080 | 11 | 68775398 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2004 | ||||
|
1 | 1.000 | 0.080 | 11 | 68793336 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68784814 | splice donor variant | C/T | snv | 4.1E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 11 | 68780734 | missense variant | T/G | snv | 2.2E-04 | 2.0E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 11 | 68807622 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 11 | 68804077 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 68761688 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 11 | 68799217 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 68781825 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 68793363 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 68812532 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 68773294 | stop gained | G/A | snv | 0.700 | 0 |