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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 2 | 150929228 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 12 | 114235918 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 150964998 | intergenic variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 140863896 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 86363229 | TF binding site variant | G/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 4 | 54226459 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.080 | 16 | 86430089 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 2 | 150927414 | intergenic variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 61285855 | intergenic variant | C/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 58270246 | intergenic variant | G/A | snv | 0.94 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 3 | 70880832 | regulatory region variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 3 | 70868488 | intergenic variant | A/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 18 | 22074176 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 61485463 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 3 | 184065565 | downstream gene variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 130753797 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.882 | 0.160 | 15 | 57960908 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.080 | 15 | 58069827 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 2 | 21027351 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 18 | 63215417 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 113712354 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 1 | 15496566 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 |