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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.100 | 1.000 | 10 | 2000 | 2019 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2002 | 2017 | |||||
|
3 | 0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2007 | |||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 17 | 45993953 | missense variant | C/A;G;T | snv | 6.3E-05; 2.5E-04; 5.3E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 17 | 45983493 | missense variant | A/G | snv | 4.0E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
10 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 |