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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.900 | 0.953 | 43 | 2007 | 2019 | ||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.900 | 1.000 | 28 | 2009 | 2019 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.900 | 0.895 | 19 | 2003 | 2017 | ||||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.850 | 0.875 | 8 | 2010 | 2016 | |||
|
6 | 0.807 | 0.120 | 14 | 68232877 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 4 | 2012 | 2019 | ||||
|
6 | 0.807 | 0.160 | 14 | 68193711 | intron variant | T/C | snv | 0.80 | 0.820 | 1.000 | 6 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 204546897 | intron variant | A/G | snv | 0.65 | 0.57 | 0.810 | 1.000 | 1 | 2013 | 2013 | |||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.800 | 0.972 | 36 | 2007 | 2019 | ||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.800 | 1.000 | 25 | 2007 | 2018 | |||||
|
14 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 0.800 | 0.958 | 24 | 2007 | 2017 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.800 | 0.864 | 22 | 2007 | 2017 | ||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.800 | 1.000 | 21 | 2007 | 2016 | ||||
|
11 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 19 | 2008 | 2017 | ||||
|
7 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 0.800 | 1.000 | 17 | 2009 | 2019 | ||||
|
8 | 0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 | 0.800 | 0.938 | 16 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 68214759 | intron variant | C/T | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 112974337 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 84156830 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv | 0.790 | 0.909 | 11 | 2009 | 2018 | |||||
|
6 | 0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 | 0.790 | 1.000 | 10 | 2008 | 2018 | ||||
|
4 | 0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 | 0.770 | 1.000 | 11 | 2010 | 2017 | ||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.770 | 0.818 | 11 | 2009 | 2017 | |||||
|
8 | 0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 | 0.770 | 0.909 | 11 | 2009 | 2017 | ||||
|
8 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 0.770 | 1.000 | 10 | 2010 | 2020 | ||||
|
7 | 0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 | 0.770 | 0.900 | 10 | 2009 | 2017 |