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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 12 | 8089982 | stop gained | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 166046969 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 2003 | 2015 | |||||
|
4 | 0.851 | 0.080 | 2 | 166037930 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 2002 | 2017 | |||||
|
8 | 0.827 | 0.080 | 20 | 63444747 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 2013 | 2017 | |||||
|
4 | 0.851 | 0.080 | 2 | 166054677 | missense variant | T/A | snv | 0.700 | 1.000 | 7 | 2001 | 2015 | |||||
|
2 | 0.925 | 0.040 | 2 | 166037931 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2002 | 2017 | |||||
|
8 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2013 | 2017 | |||||
|
3 | 0.925 | 0.040 | 20 | 63442429 | missense variant | C/G;T | snv | 0.700 | 1.000 | 6 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.040 | 20 | 63439657 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.040 | 2 | 166047647 | missense variant | A/T | snv | 0.700 | 1.000 | 5 | 2009 | 2015 | |||||
|
8 | 0.790 | 0.080 | 2 | 166052869 | missense variant | G/A;C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
3 | 0.882 | 0.040 | 20 | 63444711 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.040 | 20 | 63439704 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2012 | 2017 | |||||
|
6 | 0.851 | 0.080 | 20 | 63444720 | missense variant | C/G;T | snv | 0.700 | 1.000 | 5 | 2013 | 2017 | |||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 1.000 | 4 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 165992006 | missense variant | C/G | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
6 | 0.827 | 0.120 | 20 | 63444730 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2001 | 2014 | |||||
|
2 | 0.925 | 0.040 | 9 | 127663343 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.040 | 9 | 127675910 | missense variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2010 | 2015 | |||||
|
3 | 0.882 | 0.040 | 20 | 63446769 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||
|
2 | 0.925 | 0.040 | 20 | 63438651 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2005 | 2013 | |||||
|
4 | 0.851 | 0.080 | 20 | 63413472 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2003 | 2016 | |||||
|
3 | 0.882 | 0.080 | 2 | 166045081 | stop gained | G/A;C;T | snv | 7.6E-05 | 0.700 | 1.000 | 3 | 2006 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 166002471 | splice donor variant | C/A | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
5 | 0.882 | 0.040 | 20 | 63413535 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2015 |