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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 6 | 32932941 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.807 | 0.240 | 6 | 31479019 | downstream gene variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.120 | 6 | 31479811 | downstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 31517397 | downstream gene variant | C/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 33149481 | downstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 33129784 | downstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | 0.160 | 6 | 33130499 | downstream gene variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.200 | 6 | 32412485 | downstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 127967391 | downstream gene variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.360 | 6 | 31826815 | upstream gene variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 33143570 | upstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.790 | 0.280 | 14 | 35405648 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 3 | 27723132 | upstream gene variant | A/G | snv | 0.61 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 6 | 32251948 | upstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 6 | 33716536 | upstream gene variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.742 | 0.440 | 10 | 67863299 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.280 | 6 | 32251212 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |