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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 | 0.730 | 1.000 | 3 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.160 | 2 | 178799566 | missense variant | G/A | snv | 1.9E-04 | 2.9E-04 | 0.710 | < 0.001 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.200 | 2 | 178546041 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2014 | 2014 | |||
|
7 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.807 | 0.200 | 2 | 178553783 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 178550221 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 178722307 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 178546050 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.200 | 2 | 178570991 | frameshift variant | TCTT/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.200 | 2 | 178738361 | splice acceptor variant | C/T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 2 | 178546110 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 2 | 178546051 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 178546049 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 178545878 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 178534344 | missense variant | G/A | snv | 1.1E-03; 4.0E-06 | 9.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 |