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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 | 0.060 | 0.833 | 6 | 2011 | 2017 | ||||
|
9 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 0.060 | 1.000 | 6 | 2009 | 2015 | |||||
|
5 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2010 | 2015 | |||||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.030 | 1.000 | 3 | 2015 | 2016 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
18 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
18 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
11 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 17 | 73010373 | intron variant | A/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 10 | 102878107 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 17 | 72730105 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.742 | 0.240 | 9 | 27969442 | intron variant | C/T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.790 | 0.160 | 8 | 127015257 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.160 | 1 | 11262099 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
13 | 0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 |