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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.080 | 1.000 | 8 | 2008 | 2018 | ||||
|
6 | 0.851 | 0.160 | 11 | 65784486 | upstream gene variant | A/G | snv | 0.44 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
4 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 203124073 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.120 | 11 | 118872577 | regulatory region variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 18 | 63775385 | 5 prime UTR variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 8 | 127765473 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 13 | 99322238 | intron variant | C/G | snv | 0.55 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
4 | 0.882 | 0.080 | 12 | 57115319 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
8 | 0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 33006170 | intron variant | G/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 16 | 27337847 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 18 | 62342581 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 3566559 | 3 prime UTR variant | A/C | snv | 0.55 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 17 | 39905186 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 2 | 102319699 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2007 | 2018 | |||||
|
7 | 0.807 | 0.120 | 9 | 6213387 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2014 | 2019 | |||||
|
4 | 0.851 | 0.160 | 6 | 409119 | 3 prime UTR variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 6579811 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 5 | 72400091 | regulatory region variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 5 | 15783487 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 |