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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.240 | 2 | 48688427 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
5 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 12 | 2005 | 2019 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 0.400 | 5 | 2001 | 2008 | |||
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | 2 | 40145564 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 8 | 18216433 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 2 | 177231925 | synonymous variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 12 | 6537702 | missense variant | A/G | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |