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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.360 | 2 | 218661219 | missense variant | A/G | snv | 4.7E-04 | 4.1E-04 | 0.820 | 1.000 | 4 | 2002 | 2015 | |||
|
1 | 1.000 | 0.240 | 2 | 218661516 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 2 | 2002 | 2007 | |||
|
1 | 1.000 | 0.240 | 2 | 218662973 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2002 | 2007 | |||||
|
4 | 0.882 | 0.280 | 2 | 218661283 | missense variant | C/T | snv | 0.710 | 1.000 | 4 | 2001 | 2014 | |||||
|
4 | 0.851 | 0.360 | 2 | 218661153 | stop gained | C/T | snv | 1.7E-04 | 2.9E-04 | 0.700 | 1.000 | 4 | 2002 | 2012 | |||
|
1 | 1.000 | 0.240 | 2 | 218663253 | stop gained | T/A | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.240 | 2 | 218662963 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.240 | 2 | 218661308 | splice donor variant | G/C;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.240 | 2 | 218662608 | frameshift variant | C/-;CC | delins | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.240 | 2 | 218661854 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.240 | 2 | 218661904 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218662680 | splice donor variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 2 | 218663369 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661954 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661547 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 2 | 218661501 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 2 | 218662561 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661040 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661456 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661546 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661770 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218661830 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 2 | 218662999 | splice donor variant | TAGG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.360 | 2 | 218662661 | stop gained | C/T | snv | 2.0E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.240 | 2 | 218663162 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 |