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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 236380 | intron variant | -/CCCGCGGC | ins | 5.0E-03; 0.10 | 1.6E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 89243662 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 100725310 | intron variant | A/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 19 | 11077477 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
6 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 34710087 | 5 prime UTR variant | A/C;G | snv | 0.13; 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 4929461 | missense variant | A/C;G | snv | 8.1E-06; 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 67883859 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 2 | 198223806 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 4 | 147485844 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 1.000 | 3 | 2004 | 2016 | ||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.840 | 1.000 | 5 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 123729767 | missense variant | A/C;G;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 11 | 103798234 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 19 | 43768194 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 20 | 23826391 | intron variant | A/C;G;T | snv | 0.76; 4.1E-06; 6.6E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2007 | 2008 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.020 | 1.000 | 2 | 2017 | 2020 | ||||
|
1 | 1.000 | 0.080 | 1 | 59907994 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |