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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2008 | 2017 | |||||
|
2 | 0.925 | 0.160 | 8 | 115418391 | missense variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2001 | 2017 | |||||
|
1 | 1.000 | 0.160 | 8 | 115418413 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2001 | 2002 | |||||
|
56 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 0.700 | 1.000 | 5 | 2001 | 2017 | |||||
|
2 | 0.925 | 0.160 | 8 | 115418392 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.160 | 8 | 115418358 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115587497 | frameshift variant | GATGTCCTGT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115604319 | frameshift variant | GC/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115587133 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115604264 | frameshift variant | ATGGAGCTGTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115604951 | frameshift variant | -/GCAA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115415015 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 115415014 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 8 | 115603883 | stop gained | G/A;C | snv | 0.700 | 0 |