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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.080 | 1 | 207321071 | upstream gene variant | T/C | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 6 | 31380245 | upstream gene variant | G/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 31380153 | upstream gene variant | C/T | snv | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 11 | 2001574 | upstream gene variant | A/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 5 | 1297739 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 5 | 1297373 | upstream gene variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 8 | 27557959 | upstream gene variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 6 | 32593082 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.807 | 0.200 | 16 | 3065110 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 7 | 76301483 | upstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 6 | 30484127 | upstream gene variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 15 | 78563924 | upstream gene variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.120 | 7 | 99735325 | upstream gene variant | T/G | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 6 | 30717643 | upstream gene variant | A/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.716 | 0.320 | 17 | 42390192 | upstream gene variant | G/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 |