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 | 18 | 31087752 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.080 | 18 | 31089462 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 31082985 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2006 | 2017 | |||
|
3 | 0.925 | 0.080 | 18 | 31086694 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 31087815 | splice acceptor variant | T/C | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 18 | 31071604 | splice donor variant | C/- | del | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31083007 | stop gained | A/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31070776 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 31086635 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 31101937 | frameshift variant | CC/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 18 | 31087781 | stop gained | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 31068939 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 31080186 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 31087695 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 31083061 | splice acceptor variant | C/T | snv | 2.1E-05 | 0.700 | 0 |