| 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 | 1.000 | 0.160 | 1 | 235766204 | missense variant | A/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2002 | 2014 | ||||
|
2 | 1.000 | 0.160 | 1 | 235805826 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.710 | 1.000 | 5 | 1996 | 2017 | |||
|
2 | 1.000 | 0.160 | 1 | 235806051 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 1.000 | 0.160 | 1 | 235830299 | frameshift variant | -/C | delins | 8.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 1 | 235830270 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 1 | 235809351 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 235808916 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 235806513 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 235788701 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 235716749 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.400 | 8 | 99861824 | frameshift variant | -/GGAC | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 8 | 99861828 | frameshift variant | C/- | delins | 4.5E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 1 | 235775041 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 1 | 235664487 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |