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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 0.969 | 196 | 2009 | 2019 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.100 | 0.965 | 113 | 2010 | 2019 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.100 | 1.000 | 18 | 2011 | 2019 | ||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.100 | 1.000 | 18 | 2014 | 2019 | |||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.100 | 1.000 | 10 | 2012 | 2019 | ||||
|
3 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 0.060 | 1.000 | 6 | 2011 | 2015 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
4 | 0.882 | 0.120 | 19 | 39243580 | 3 prime UTR variant | C/A | snv | 0.39 | 0.040 | 1.000 | 4 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 24155450 | 3 prime UTR variant | G/A | snv | 0.63 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.030 | 0.667 | 3 | 2016 | 2019 | |||||
|
5 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
4 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.160 | X | 12885361 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 |