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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 0.800 | 1.000 | 5 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.160 | 17 | 47946681 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 3 | 2005 | 2017 | |||
|
1 | 1.000 | 0.160 | 17 | 47946682 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.800 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.160 | 17 | 47941773 | missense variant | A/T | snv | 1.1E-04 | 1.3E-04 | 0.700 | 1.000 | 5 | 2010 | 2016 | |||
|
1 | 1.000 | 0.160 | 17 | 47946669 | missense variant | C/T | snv | 2.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.160 | 17 | 47946780 | stop lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 47945963 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 47945558 | splice acceptor variant | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 17 | 47944614 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 17 | 47945888 | frameshift variant | CCTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 17 | 47944699 | missense variant | G/A | snv | 5.5E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |