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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.810 | 1.000 | 3 | 2009 | 2017 | |||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2010 | 2012 | |||||
|
4 | 0.851 | 0.080 | 21 | 34226827 | intron variant | C/T | snv | 0.15 | 0.820 | 1.000 | 3 | 2009 | 2016 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 218162165 | downstream gene variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 85534925 | upstream gene variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 1 | 190092815 | downstream gene variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 5 | 4029676 | downstream gene variant | C/T | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 14 | 84338144 | intergenic variant | C/T | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 63498888 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 4 | 177397037 | intergenic variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.160 | 6 | 39156672 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 14 | 55112795 | intergenic variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 13 | 30765980 | downstream gene variant | G/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 15 | 23785809 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 17 | 40514261 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 17 | 64309731 | upstream gene variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 10 | 43985363 | downstream gene variant | T/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 8 | 125466208 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 1 | 173026503 | intron variant | T/-;TT | delins | 9.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 103798234 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |