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 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.840 | 1.000 | 3 | 2010 | 2020 | ||||
|
2 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.840 | 0.929 | 3 | 2010 | 2019 | ||||
|
2 | 0.790 | 0.160 | 22 | 37137994 | intron variant | G/A | snv | 0.43 | 0.810 | 1.000 | 3 | 2010 | 2012 | ||||
|
6 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 2 | 2010 | 2016 | ||||
|
3 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 0.810 | 1.000 | 2 | 2011 | 2012 | |||||
|
4 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.720 | 1.000 | 2 | 2010 | 2017 | ||||
|
3 | 0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.790 | 0.240 | 21 | 44227538 | 3 prime UTR variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.790 | 0.360 | 6 | 32690302 | TF binding site variant | T/C | snv | 0.15 | 0.810 | 0.500 | 1 | 2011 | 2020 | ||||
|
3 | 0.790 | 0.200 | 17 | 39924659 | intron variant | G/A;C | snv | 0.730 | 1.000 | 1 | 2011 | 2018 | |||||
|
8 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 | 0.810 | 1.000 | 1 | 2012 | 2019 | ||||
|
1 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
7 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
3 | 0.807 | 0.200 | 17 | 39926554 | 5 prime UTR variant | T/C | snv | 0.49 | 0.730 | 1.000 | 1 | 2008 | 2017 | ||||
|
3 | 0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.820 | 0.667 | 1 | 2011 | 2018 | |||||
|
3 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.807 | 0.120 | 9 | 6213387 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2019 | |||||
|
2 | 0.827 | 0.160 | 5 | 132634182 | intron variant | T/C | snv | 0.24 | 0.710 | 1.000 | 3 | 2010 | 2016 | ||||
|
1 | 0.827 | 0.200 | 6 | 32658092 | upstream gene variant | T/C;G | snv | 0.810 | 1.000 | 3 | 2010 | 2012 |