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 | 0.040 | 5 | 35881341 | downstream gene variant | G/A | snv | 0.20 | 0.710 | 0.500 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.120 | 2 | 112829544 | downstream gene variant | A/G | snv | 0.83 | 0.020 | 1.000 | 2 | 2017 | 2020 | ||||
|
5 | 0.827 | 0.120 | 2 | 102030838 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.080 | 4 | 79900765 | downstream gene variant | C/A | snv | 0.49 | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 200968901 | downstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.240 | 10 | 62679011 | downstream gene variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 6 | 31392512 | downstream gene variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 16 | 11225500 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 67281753 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 14 | 35359535 | downstream gene variant | T/A;G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.240 | 10 | 99538694 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.200 | 1 | 160876494 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 2 | 198880294 | downstream gene variant | C/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 10 | 30402574 | downstream gene variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 32812540 | downstream gene variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.240 | 20 | 63637985 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | X | 136583619 | downstream gene variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 1 | 152618187 | downstream gene variant | T/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 1238231 | downstream gene variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 31579737 | downstream gene variant | G/T | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |