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 | 0.120 | 9 | 21971119 | missense variant | T/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.120 | 6 | 161350185 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 3 | 9751114 | missense variant | G/C | snv | 5.2E-05 | 1.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 10 | 129536277 | missense variant | C/A;T | snv | 8.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 7 | 106868317 | missense variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 3 | 74669607 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 7 | 5989944 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 3 | 9754765 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 2 | 233682175 | missense variant | T/C;G | snv | 4.0E-06; 1.4E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 4 | 99313834 | missense variant | C/T | snv | 3.7E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 18 | 59211042 | intergenic variant | C/T | snv | 0.23 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 9 | 22103342 | intron variant | T/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 21 | 42358786 | downstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 7235910 | upstream gene variant | C/T | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 21 | 34085692 | intron variant | C/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 12 | 40034837 | intron variant | T/C | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 17 | 7668783 | 3 prime UTR variant | C/T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 6270835 | synonymous variant | C/A;G | snv | 0.16; 4.0E-06 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 10 | 16923228 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 27583053 | intron variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 29942790 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.120 | 4 | 88132618 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |