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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
13 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2019 | ||||
|
8 | 0.807 | 0.280 | 2 | 241859444 | upstream gene variant | C/T | snv | 5.4E-02 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 11 | 23153770 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.080 | 1 | 241847325 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 10 | 113678707 | upstream gene variant | G/A | snv | 0.11 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
29 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.160 | 10 | 113678445 | upstream gene variant | C/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 7 | 142798609 | upstream gene variant | C/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 |