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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 2 | 113090051 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.890 | 0.900 | 1 | 2009 | 2016 | |||||
|
3 | 1.000 | 0.080 | 11 | 102899623 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 15 | 78737381 | downstream gene variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 6 | 39294759 | downstream gene variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
36 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 5 | 174535039 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
11 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 4 | 154580036 | downstream gene variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 4 | 110793263 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 6 | 43294966 | upstream gene variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
19 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 12 | 87757000 | upstream gene variant | A/C;G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 110791530 | upstream gene variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 10 | 103856724 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
16 | 0.851 | 0.120 | 20 | 41322165 | upstream gene variant | A/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 8 | 132863908 | upstream gene variant | T/G | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.882 | 0.120 | 4 | 154623920 | upstream gene variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 20 | 50369334 | TF binding site variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 |