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 | 0.851 | 0.160 | 2 | 240871433 | missense variant | G/A;C | snv | 5.6E-04 | 0.710 | 1.000 | 7 | 1990 | 2014 | ||||
|
7 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 0.710 | 1.000 | 5 | 2000 | 2007 | |||
|
2 | 0.925 | 0.160 | 2 | 240875974 | frameshift variant | AG/-;AGAG | delins | 0.700 | 1.000 | 4 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.160 | 2 | 240871379 | missense variant | T/A | snv | 9.0E-05 | 1.5E-04 | 0.700 | 1.000 | 2 | 2007 | 2012 | |||
|
2 | 0.925 | 0.160 | 2 | 240868891 | frameshift variant | CC/-;C;CCC | delins | 0.700 | 1.000 | 2 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 240878726 | missense variant | G/A | snv | 3.4E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2014 | 2015 | |||
|
2 | 0.925 | 0.160 | 9 | 37432135 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | 9 | 37426545 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 9 | 37429732 | missense variant | G/A | snv | 1.2E-04 | 4.2E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 10 | 97584820 | stop gained | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 10 | 97584911 | stop gained | C/T | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 |