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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 132682077 | inframe deletion | CCT/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 3 | 132691199 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 3 | 132696798 | stop gained | G/A | snv | 4.8E-05 | 1.0E-04 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 3 | 132683487 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132699352 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132686280 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132688818 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132719814 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 3 | 132699988 | stop gained | C/A;T | snv | 8.0E-06; 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 132687223 | stop gained | A/G;T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 132713256 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 132687195 | frameshift variant | -/T | delins | 4.1E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 132722296 | stop gained | G/A;C | snv | 7.0E-06 | 0.700 | 0 |