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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 17 | 30234737 | intron variant | A/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
8 | 0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.160 | 17 | 41973846 | synonymous variant | G/A | snv | 0.31 | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.120 | 8 | 20178722 | intron variant | T/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 156136335 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 156136245 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 156139089 | missense variant | A/G | snv | 1.2E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.790 | 0.120 | 2 | 75137019 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 5 | 76954762 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 |