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 | 0.080 | 8 | 24955722 | missense variant | T/C | snv | 0.700 | 1.000 | 7 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 24955509 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 24953646 | missense variant | G/A;C | snv | 0.700 | 1.000 | 7 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 24955713 | missense variant | A/C;G | snv | 0.700 | 1.000 | 7 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 24955720 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 24953704 | stop gained | G/A;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 24956455 | frameshift variant | -/TCCACGTAGCGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 24954233 | stop gained | G/A;C | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 24956029 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 24955521 | missense variant | T/G | snv | 0.800 | 1.000 | 7 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 8 | 24956235 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 8 | 24953779 | missense variant | C/T | snv | 0.810 | 1.000 | 15 | 2000 | 2016 | |||||
|
3 | 0.882 | 0.080 | 8 | 24956493 | missense variant | GG/CT | mnv | 0.800 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 2002 | 2016 | |||||
|
11 | 0.827 | 0.200 | 8 | 24956452 | missense variant | G/A;T | snv | 0.810 | 1.000 | 1 | 2011 | 2011 |