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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.040 | 1.000 | 4 | 2008 | 2012 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.030 | 0.667 | 3 | 1996 | 1998 | |||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 113420621 | intron variant | T/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 11 | 113420866 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 113425385 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 1.000 | 0.080 | 11 | 113503698 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 11 | 113561238 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 113932382 | synonymous variant | G/A;C;T | snv | 7.7E-02; 2.8E-03; 5.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 11 | 113936885 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 113975355 | synonymous variant | C/T | snv | 8.2E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 113985959 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 114139354 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
1 | 1.000 | 0.080 | 10 | 114445017 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.333 | 3 | 1999 | 2003 | |||||
|
3 | 1.000 | 0.080 | 7 | 115311376 | intergenic variant | -/CAA | ins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 10 | 117244053 | synonymous variant | T/A;C;G | snv | 4.0E-06; 7.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 11754872 | intron variant | T/C | snv | 0.34 | 0.030 | 0.667 | 3 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 117762339 | intron variant | A/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2018 | |||
|
1 | 1.000 | 0.080 | 7 | 117981823 | intergenic variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 |