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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 16 | 70268356 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 16 | 70254688 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 44307303 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 37274293 | missense variant | C/T | snv | 2.3E-04 | 9.3E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.080 | 8 | 26864491 | missense variant | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 1929314 | missense variant | T/G | snv | 5.4E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 8 | 1909425 | missense variant | G/A | snv | 3.1E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 8 | 1882687 | missense variant | G/A;C | snv | 1.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 8 | 1885635 | missense variant | G/C;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 116395247 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.752 | 0.200 | 11 | 62702493 | missense variant | G/A;C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 18 | 79710825 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 10 | 12117722 | missense variant | C/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 219281772 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 219279847 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 19 | 10797424 | missense variant | A/G | snv | 1.1E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 19 | 10793799 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.080 | 14 | 101980506 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 14 | 101985925 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 10 | 62813835 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.080 | 10 | 62813413 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.807 | 0.080 | 10 | 62813563 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |