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 | 6 | 42698422 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1997 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 42704558 | missense variant | C/G | snv | 0.700 | 1.000 | 5 | 1997 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 42704419 | stop gained | G/T | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.080 | 11 | 61951946 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 6 | 42721913 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.080 | 6 | 42704564 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 6 | 42704559 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 11 | 61959504 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 42722333 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 42698389 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 42704557 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 42722018 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 42722222 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 42704391 | missense variant | C/A;G;T | snv | 8.3E-06; 1.7E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 6 | 42704568 | missense variant | C/A;T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 6 | 42722202 | missense variant | G/A | snv | 1.1E-03 | 4.1E-03 | 0.700 | 0 |