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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.925 | 0.080 | 17 | 18271367 | downstream gene variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 20 | 32811837 | downstream gene variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 10 | 100365004 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
14 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 0.050 | 0.400 | 5 | 2017 | 2019 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.040 | 0.750 | 4 | 2013 | 2017 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.040 | 1.000 | 4 | 2014 | 2016 | ||||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.040 | 1.000 | 4 | 2012 | 2015 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.040 | 0.500 | 4 | 2013 | 2017 | |||||
|
35 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 0.040 | 0.750 | 4 | 2015 | 2018 | ||||
|
30 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 0.040 | 0.750 | 4 | 2009 | 2015 | ||||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.030 | 1.000 | 3 | 2017 | 2018 | ||||
|
6 | 0.925 | 0.080 | 17 | 78214076 | upstream gene variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2019 | 2020 | |||||
|
10 | 0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 | 0.030 | 1.000 | 3 | 2017 | 2018 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
12 | 0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
12 | 0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
9 | 0.807 | 0.160 | 15 | 74745879 | upstream gene variant | G/A | snv | 0.13 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.020 | 0.500 | 2 | 2013 | 2017 | ||||
|
15 | 0.752 | 0.320 | 17 | 58281401 | upstream gene variant | C/T | snv | 0.24 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
13 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2019 |