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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 2 | 73946776 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 73958199 | stop gained | -/GATT | delins | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 73946888 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 2002 | 2005 | ||||
|
1 | 1.000 | 2 | 73957212 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.800 | 1.000 | 2 | 2002 | 2005 | ||||
|
1 | 1.000 | 2 | 73946750 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1997 | 2001 | |||||
|
3 | 0.925 | 0.080 | 2 | 73958201 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 73938922 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 73958187 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 2 | 73957135 | frameshift variant | GA/- | delins | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 73939018 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 73957141 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
|
3 | 0.882 | 2 | 73950732 | splice region variant | G/A | snv | 4.0E-05 | 4.9E-05 | 0.700 | 0 |