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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 17 | 41586785 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2013 | ||||
|
7 | 0.807 | 0.320 | 13 | 20189532 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 0.030 | 1.000 | 3 | 2008 | 2013 | |||||
|
9 | 0.790 | 0.280 | 13 | 20189434 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
13 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
13 | 0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 |