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 | 0.200 | 11 | 67365493 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 67365224 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 18594338 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 18598591 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 19 | 18596895 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 18606604 | frameshift variant | CCGCCGCGCGGATTGGGCGGCGG/- | delins | 2.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 19 | 18598886 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 18599659 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 18599564 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 18596711 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 67367597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 67365138 | stop lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 18596782 | frameshift variant | GTCCACCA/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 18596918 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |