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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
1 | 11 | 101127985 | synonymous variant | C/G;T | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 11 | 101128477 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 11 | 102212877 | intron variant | T/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 10 | 102988961 | intron variant | A/G | snv | 0.41 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 10652192 | missense variant | T/A;C | snv | 0.76 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 10652497 | intron variant | C/G | snv | 0.78 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 20 | 10703511 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 109996209 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 7 | 111688341 | intergenic variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 111936542 | intron variant | T/C | snv | 0.69 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 10 | 112426866 | splice region variant | G/A | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 10 | 112442768 | intron variant | A/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.040 | 0.750 | 4 | 2012 | 2015 | |||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
10 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2004 | 2007 | |||||
|
2 | 1.000 | 0.040 | 1 | 115134562 | regulatory region variant | T/C | snv | 0.14 | 0.720 | 1.000 | 3 | 2013 | 2018 |