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 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 3 | 112463893 | downstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 8 | 102565637 | downstream gene variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 112460632 | downstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 16 | 85951755 | downstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 4 | 184333619 | downstream gene variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 18 | 63121512 | downstream gene variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 2 | 37376658 | downstream gene variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.120 | 6 | 412802 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 15 | 40111456 | upstream gene variant | C/G | snv | 0.50 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 18 | 50317164 | upstream gene variant | A/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 0.925 | 0.120 | 16 | 85895015 | upstream gene variant | A/T | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
4 | 0.851 | 0.200 | 3 | 169790484 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.120 | 2 | 241355498 | upstream gene variant | A/G | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 16 | 85894208 | upstream gene variant | C/T | snv | 0.48 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 4 | 113762688 | upstream gene variant | G/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 19 | 4069121 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 20 | 46006406 | upstream gene variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.280 | 6 | 32658495 | upstream gene variant | C/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.080 | 1.000 | 8 | 2013 | 2019 | |||
|
3 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 0.830 | 1.000 | 3 | 2008 | 2010 | |||
|
8 | 0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.240 | 6 | 43780801 | splice region variant | C/T | snv | 4.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |