| 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 | 1 | 154588668 | missense variant | A/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 154584993 | missense variant | A/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 154585024 | missense variant | G/A | snv | 7.0E-06 | 0.720 | 1.000 | 2 | 2005 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 154601222 | stop gained | G/A | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 154585314 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 1 | 154590246 | frameshift variant | CT/- | del | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 1 | 154588582 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 154597125 | stop gained | G/A;C;T | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 1 | 154602065 | missense variant | G/C;T | snv | 2.2E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 154601700 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 154588125 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 154598427 | missense variant | T/C | snv | 3.6E-03 | 1.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 154586307 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |