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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 2 | 60492835 | intron variant | C/A | snv | 0.80 | 0.800 | 1.000 | 5 | 2007 | 2016 | ||||
|
13 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 4 | 2007 | 2015 | ||||
|
2 | 1.000 | 0.080 | 2 | 60493622 | intron variant | G/A | snv | 0.64 | 0.800 | 1.000 | 3 | 2007 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2007 | 2012 | |||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.800 | 1.000 | 3 | 2007 | 2011 | ||||
|
6 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2007 | 2014 | |||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2007 | 2015 | |||||
|
1 | 11 | 5352021 | missense variant | C/T | snv | 0.24 | 0.27 | 0.800 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 1.000 | 0.080 | 2 | 60494905 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2007 | 2012 | |||||
|
2 | 1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2007 | 2011 | |||||
|
3 | 11 | 5285279 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2008 | 2011 | |||||||
|
2 | 1.000 | 0.080 | 2 | 60495106 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 60494212 | intron variant | G/A | snv | 0.64 | 0.800 | 1.000 | 2 | 2007 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60494176 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 2 | 2007 | 2011 | ||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
6 | 1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 6 | 71067268 | intergenic variant | G/A | snv | 4.4E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 5 | 113387870 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60496951 | intron variant | T/C | snv | 0.81 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60496952 | intron variant | G/T | snv | 0.80 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60487726 | intron variant | A/C;G | snv | 0.50 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60488044 | intron variant | C/T | snv | 0.49 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.080 | 2 | 60496537 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 2 | 60496131 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 2 | 60491212 | intron variant | C/T | snv | 0.42 | 0.800 | 1.000 | 1 | 2011 | 2011 |