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 | 1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 10 | 17833817 | synonymous variant | T/A | snv | 4.5E-04 | 0.49 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 10 | 98367794 | regulatory region variant | G/A | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 134842306 | intron variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 3 | 120706484 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 2 | 204118831 | intergenic variant | T/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 183389270 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 181783398 | intergenic variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 68651460 | intron variant | G/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 3 | 355870 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 11182702 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 26019261 | intron variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 95305887 | intron variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 0.851 | 0.240 | 7 | 95326216 | upstream gene variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 232639279 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 99372525 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 17933413 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 109631385 | intergenic variant | G/T | snv | 1.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 33108491 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 32223562 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 19 | 40827379 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 |