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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2016 | ||||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.040 | 1.000 | 4 | 2014 | 2018 | |||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.040 | 0.750 | 4 | 2008 | 2015 | ||||
|
6 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
13 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.730 | 1.000 | 4 | 2014 | 2018 | ||||
|
6 | 0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2007 | 2017 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
3 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2017 | |||
|
3 | 0.882 | 0.080 | 10 | 99528007 | non coding transcript exon variant | G/A | snv | 0.52 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.820 | 1.000 | 3 | 2009 | 2020 | ||||
|
2 | 1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
9 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
8 | 0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2016 | |||||
|
4 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
7 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
12 | 0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
6 | 0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.030 | 0.667 | 3 | 2004 | 2009 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.030 | 0.667 | 3 | 2010 | 2014 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.720 | 0.667 | 3 | 2010 | 2017 | |||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.720 | 1.000 | 3 | 2014 | 2016 |