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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.100 | 0.882 | 17 | 2003 | 2019 | ||||
|
3 | 0.925 | 0.080 | 11 | 17387566 | missense variant | G/A | snv | 2.4E-05 | 7.7E-05 | 0.020 | 1.000 | 2 | 2004 | 2019 | |||
|
7 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
5 | 0.882 | 0.080 | 11 | 17387413 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.020 | 0.500 | 2 | 2006 | 2012 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 0.500 | 2 | 2006 | 2012 | |||||
|
4 | 0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.080 | 11 | 17387103 | missense variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.240 | 11 | 17387629 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.080 | 11 | 17387968 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
10 | 0.790 | 0.240 | 11 | 17387943 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.280 | 11 | 17387491 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |