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 | 1 | 201058493 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 1 | 201091770 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 1 | 201050983 | splice donor variant | C/G;T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 1 | 201076951 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 1 | 201092011 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 1 | 201041534 | stop gained | G/A;T | snv | 9.2E-05; 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 1 | 201077995 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 1 | 201053538 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 14 | 1994 | 2018 | ||||
|
2 | 0.925 | 0.160 | 1 | 201077916 | missense variant | G/A;C | snv | 8.0E-06 | 0.710 | 1.000 | 7 | 1994 | 2010 | ||||
|
3 | 0.882 | 0.160 | 1 | 201083222 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 1 | 201065943 | missense variant | G/A;C | snv | 3.8E-02 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 1 | 201066917 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 1 | 201066283 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 0.810 | 1.000 | 16 | 1994 | 2012 | ||||
|
5 | 0.882 | 0.200 | 1 | 201053539 | missense variant | G/A;C | snv | 0.820 | 1.000 | 8 | 1994 | 2010 |