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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 6 | 31537703 | intron variant | A/G | snv | 0.10 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 6 | 31039078 | downstream gene variant | T/C | snv | 0.65 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.280 | 6 | 31168676 | intron variant | A/G | snv | 0.78 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.851 | 0.200 | 6 | 31125810 | 5 prime UTR variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.882 | 0.160 | 6 | 31440051 | intron variant | T/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.240 | 16 | 49912759 | intergenic variant | C/G;T | snv | 0.27 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
2 | 0.925 | 0.160 | 15 | 73437142 | intergenic variant | G/C | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 7 | 7761056 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31174468 | intron variant | C/A;T | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 6 | 31167111 | 5 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 20 | 40410188 | regulatory region variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 16 | 49916730 | downstream gene variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 6 | 30731607 | intron variant | G/C | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.240 | 16 | 49906847 | intergenic variant | G/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 |