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 | 11 | 63572600 | downstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 1 | 221876478 | downstream gene variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 1 | 221989031 | downstream gene variant | C/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.080 | 14 | 53990513 | downstream gene variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 2 | 199266972 | downstream gene variant | A/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 256714 | downstream gene variant | C/T | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 4 | 102620848 | downstream gene variant | G/T | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.900 | 1.000 | 15 | 2008 | 2019 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.060 | 0.833 | 6 | 2008 | 2017 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.050 | 1.000 | 5 | 2014 | 2019 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.040 | 1.000 | 4 | 2008 | 2019 | ||||
|
29 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.030 | 0.667 | 3 | 2017 | 2019 | |||
|
25 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 50761880 | upstream gene variant | C/T | snv | 0.23 | 0.820 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
19 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
11 | 0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2014 | |||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||
|
8 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
10 | 0.776 | 0.080 | 17 | 83104098 | upstream gene variant | A/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 111318433 | upstream gene variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2008 | 2008 |