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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.760 | 1.000 | 6 | 2004 | 2012 | ||||
|
6 | 0.882 | 0.200 | 2 | 47476424 | missense variant | T/G | snv | 0.730 | 0.833 | 3 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.160 | 2 | 47476513 | stop gained | C/G;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475100 | stop gained | C/G | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.160 | 2 | 47416375 | missense variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.160 | 2 | 47429878 | frameshift variant | -/CGAC | delins | 0.710 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 1994 | 2012 | ||||
|
2 | 0.925 | 0.160 | 2 | 47480871 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 2 | 47476388 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.882 | 0.160 | 2 | 47482912 | missense variant | T/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475129 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 0.925 | 0.160 | 2 | 47480846 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.882 | 0.160 | 2 | 47475064 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |