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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 11 | 108344670 | intron variant | T/G | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 8 | 17578682 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.080 | 21 | 45528653 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 11 | 128863066 | intron variant | G/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.080 | 11 | 128911724 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 3 | 53673113 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
14 | 0.776 | 0.080 | 20 | 62345988 | intron variant | T/C | snv | 0.56 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 40145564 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 8 | 18216433 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.160 | 12 | 47838310 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 2 | 233767063 | synonymous variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |