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 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.900 | 0.875 | 2 | 2009 | 2019 | ||||
|
6 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 1.000 | 1 | 2010 | 2019 | ||||
|
1 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.900 | 0.873 | 1 | 2008 | 2019 | |||||
|
2 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.900 | 0.893 | 1 | 2011 | 2019 | ||||
|
1 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.880 | 1.000 | 2 | 2009 | 2018 | |||||
|
1 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.860 | 0.857 | 1 | 2008 | 2019 | ||||
|
1 | 0.925 | 0.080 | 1 | 167933841 | intron variant | G/T | snv | 0.20 | 0.850 | 0.800 | 1 | 2011 | 2018 | ||||
|
2 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.850 | 0.889 | 1 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 44821583 | intron variant | A/C;G | snv | 0.840 | 0.750 | 1 | 2011 | 2017 | |||||
|
1 | 0.925 | 0.040 | 4 | 117725752 | intergenic variant | A/G | snv | 0.25 | 0.840 | 1.000 | 1 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 28259826 | missense variant | C/A;T | snv | 0.12 | 0.830 | 1.000 | 1 | 2011 | 2015 | ||||
|
2 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 0.830 | 1.000 | 1 | 2012 | 2018 | |||||
|
2 | 0.851 | 0.040 | 10 | 103016151 | intron variant | G/A | snv | 0.40 | 0.830 | 1.000 | 1 | 2011 | 2020 | ||||
|
4 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.820 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 57995793 | intron variant | T/C | snv | 0.70 | 0.820 | 1.000 | 2 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 22 | 49824963 | intron variant | A/C | snv | 0.36 | 0.820 | 0.667 | 1 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 37365485 | intron variant | C/A;T | snv | 0.820 | 0.667 | 1 | 2013 | 2016 | |||||
|
2 | 0.851 | 0.040 | 8 | 88748082 | intron variant | A/G | snv | 0.28 | 0.810 | 0.800 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 98087276 | intergenic variant | A/T | snv | 0.78 | 0.810 | 1.000 | 2 | 2012 | 2017 | ||||
|
6 | 0.807 | 0.320 | 6 | 32205216 | intron variant | C/T | snv | 0.11 | 0.810 | 0.667 | 2 | 2009 | 2014 | ||||
|
3 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.810 | 1.000 | 1 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 1964786 | intron variant | C/G;T | snv | 0.810 | 1.000 | 1 | 2012 | 2016 | |||||
|
2 | 0.827 | 0.040 | 18 | 55084786 | intergenic variant | G/A | snv | 0.39 | 0.810 | 0.667 | 1 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 144383974 | intron variant | A/C;T | snv | 0.810 | 1.000 | 1 | 2013 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 38173827 | intron variant | A/G | snv | 0.20 | 0.810 | 1.000 | 1 | 2011 | 2011 |