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 | 0.080 | 19 | 41869042 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 1999 | 2008 | |||||
|
1 | 1.000 | 0.080 | 19 | 41869722 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1999 | 2008 | |||||
|
1 | 1.000 | 0.080 | 19 | 41860817 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 1999 | 2008 | ||||
|
1 | 1.000 | 0.080 | 19 | 41861204 | missense variant | C/T | snv | 2.5E-04 | 3.8E-04 | 0.700 | 1.000 | 8 | 1999 | 2008 | |||
|
2 | 0.925 | 0.080 | 19 | 41869043 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 1999 | 2008 | |||||
|
1 | 1.000 | 0.080 | 19 | 41860823 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 8 | 1999 | 2008 | ||||
|
1 | 1.000 | 0.080 | 19 | 41861138 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 41869108 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 41869217 | splice region variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 1 | 92833637 | frameshift variant | AACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 41869708 | frameshift variant | -/CT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 41869138 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 41869163 | frameshift variant | G/- | delins | 0.700 | 0 |