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 | 1.000 | 14 | 2011 | 2018 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.040 | 1.000 | 4 | 2016 | 2019 | |||||
|
10 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2014 | 2017 | |||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
6 | 0.807 | 0.160 | 12 | 53991163 | intron variant | A/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.810 | 0.500 | 2 | 2012 | 2017 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
6 | 0.827 | 0.200 | 4 | 73870427 | intron variant | A/G | snv | 0.46 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.810 | 1.000 | 2 | 2012 | 2017 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
3 | 0.882 | 0.120 | 17 | 58279379 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
2 | 0.925 | 0.080 | 4 | 73455883 | 3 prime UTR variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 14 | 92074996 | intron variant | C/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.160 | 7 | 30924207 | 3 prime UTR variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 4 | 88726273 | 3 prime UTR variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 |