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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.890 | 0.900 | 10 | 2009 | 2016 | |||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 113090051 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 5 | 179108712 | downstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 11 | 102899623 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 15 | 78737381 | downstream gene variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 9 | 119152945 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 6 | 39294759 | downstream gene variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 10 | 80270902 | downstream gene variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 5 | 174535039 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 4 | 154580036 | downstream gene variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 22 | 30629202 | downstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.100 | 0.727 | 11 | 2010 | 2019 | ||||
|
14 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 1.000 | 0.080 | 12 | 664290 | upstream gene variant | C/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 1.000 | 0.120 | 17 | 34284427 | upstream gene variant | A/G | snv | 0.86 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
13 | 0.742 | 0.520 | 10 | 52771740 | upstream gene variant | T/C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 0.882 | 0.080 | 9 | 84668501 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 2 | 188972572 | upstream gene variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |