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 | 0.200 | 6 | 31381371 | downstream gene variant | G/A | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
1 | 1.000 | 0.200 | 1 | 67281340 | downstream gene variant | G/C | snv | 0.23 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 1 | 67281732 | downstream gene variant | A/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.200 | 7 | 150538695 | downstream gene variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 6 | 30992490 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 4 | 74393688 | downstream gene variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 6 | 31381371 | downstream gene variant | G/A | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 6 | 31083776 | downstream gene variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
6 | 0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.925 | 0.200 | 6 | 31384669 | upstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
21 | 0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 2 | 191153045 | upstream gene variant | T/C | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.200 | 6 | 29995539 | upstream gene variant | T/C | snv | 0.90 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 4 | 827702 | upstream gene variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.240 | 6 | 41287752 | upstream gene variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.200 | 8 | 17642610 | splice region variant | C/G;T | snv | 8.0E-06; 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 2 | 48420887 | TF binding site variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.200 | 1 | 169586343 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 |