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 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.120 | 17 | 2305605 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 103454008 | 3 prime UTR variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 12 | 72032174 | 3 prime UTR variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.080 | 9 | 84835851 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 6 | 29610981 | missense variant | C/T | snv | 4.1E-06 | 0.070 | 0.714 | 7 | 2003 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 29613344 | missense variant | C/T | snv | 1.1E-03 | 1.5E-03 | 0.070 | 0.714 | 7 | 2003 | 2011 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 0.750 | 4 | 2006 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.040 | 0.750 | 4 | 2006 | 2018 | ||||
|
6 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 98601678 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 7652640 | missense variant | C/G | snv | 0.78 | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 11 | 68685628 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.827 | 0.080 | 8 | 67483807 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.120 | 8 | 132175457 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |