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 | 18 | 22610832 | intergenic variant | G/A | snv | 0.86 | 0.880 | 0.778 | 9 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342641 | intron variant | G/A | snv | 0.18 | 0.830 | 0.800 | 5 | 2012 | 2016 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 5113465 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342070 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 11 | 32343884 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 14 | 76517387 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 18 | 22592612 | intergenic variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 8 | 89644760 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 14 | 70035333 | downstream gene variant | G/A;C | snv | 2.1E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 8 | 89688709 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 26501929 | intergenic variant | C/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 17 | 78355453 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 89791937 | downstream gene variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.200 | 12 | 78807293 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 77439033 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 4 | 77439174 | intron variant | G/A | snv | 0.19 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | X | 37777261 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 242711583 | intergenic variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 16 | 50691282 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 17 | 27807685 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 18 | 22596123 | intergenic variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 |