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 | 1 | 1535372 | missense variant | G/A | snv | 0.810 | 1.000 | 3 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 1535370 | missense variant | G/A | snv | 2.1E-05 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 1535392 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 65530715 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 65536073 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 65532806 | splice donor variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 65536319 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 1535619 | missense variant | C/G;T | snv | 6.6E-06; 3.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 1535616 | missense variant | G/A | snv | 1.3E-05 | 4.9E-05 | 0.800 | 1.000 | 3 | 2010 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 1535436 | missense variant | C/G;T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2014 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 1535723 | missense variant | G/A | snv | 3.8E-05 | 4.2E-05 | 0.800 | 1.000 | 3 | 2010 | 2017 |