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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2017 | 2019 | |||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.020 | 0.500 | 2 | 2013 | 2017 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.160 | 3 | 9748794 | upstream gene variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 15 | 39580382 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 7 | 152677078 | upstream gene variant | C/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
13 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 19 | 29810916 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
14 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 8 | 41311757 | upstream gene variant | T/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 1 | 11796249 | start lost | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.160 | 7 | 148809304 | splice region variant | A/C;G | snv | 6.8E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.020 | 1.000 | 2 | 2007 | 2013 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2010 | 2015 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 1.000 | 5 | 2012 | 2018 |