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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 5 | 2009 | 2015 | ||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.810 | 1.000 | 4 | 2008 | 2018 | ||||
|
4 | 0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||
|
2 | 0.925 | 0.040 | 6 | 31298313 | intron variant | G/A | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31274954 | intron variant | T/A | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 31284147 | intron variant | C/T | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 31271780 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
8 | 0.882 | 0.160 | 6 | 31295974 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 31271093 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 6 | 31356368 | missense variant | A/C;G;T | snv | 0.12; 7.9E-05; 3.8E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 |