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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 17 | 39756124 | downstream gene variant | C/T | snv | 0.37 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 10 | 35006503 | downstream gene variant | C/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2017 | |||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2008 | 2012 | |||||
|
2 | 1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 3 | 46415921 | downstream gene variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 132397705 | downstream gene variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 3 | 169042362 | downstream gene variant | A/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 40137889 | downstream gene variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 4 | 122430276 | downstream gene variant | A/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | 10 | 30402574 | downstream gene variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.160 | 6 | 32447303 | downstream gene variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 240634984 | downstream gene variant | G/A;T | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 14 | 75234518 | downstream gene variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 1 | 2571341 | downstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1 | 67265685 | downstream gene variant | T/C | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.030 | 1.000 | 3 | 2016 | 2017 | |||
|
2 | 1.000 | 0.040 | 6 | 166960059 | upstream gene variant | T/G | snv | 0.57 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2016 | |||||
|
8 | 0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2017 |