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 | 1.000 | 0.080 | 14 | 37588860 | downstream gene variant | C/T | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 7 | 45909971 | downstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 6 | 33207798 | upstream gene variant | C/T | snv | 0.27 | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 19 | 53788578 | upstream gene variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 8 | 18389154 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.160 | 4 | 99353129 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.200 | 5 | 132059045 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 17304110 | upstream gene variant | G/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 16 | 2203772 | upstream gene variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.160 | 5 | 1297373 | upstream gene variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 20 | 50433551 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 129430178 | upstream gene variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 32623213 | upstream gene variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.280 | 2 | 241859444 | upstream gene variant | C/T | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 28926534 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.708 | 0.360 | 6 | 52185555 | upstream gene variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 19 | 40285605 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.080 | 1 | 153615864 | splice region variant | C/T | snv | 0.40 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 |