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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2008 | 2019 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 2 | 203844626 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.020 | 1.000 | 2 | 2006 | 2007 | |||
|
3 | 0.882 | 0.200 | 6 | 32713753 | upstream gene variant | T/C | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.050 | 1.000 | 5 | 2008 | 2019 | |||||
|
2 | 0.925 | 0.120 | 10 | 79182874 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 0.020 | 1.000 | 2 | 2008 | 2019 | |||
|
7 | 0.827 | 0.200 | 12 | 71269322 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 |