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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 17157671 | intergenic variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 37047903 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 1 | 160837925 | intron variant | T/C | snv | 0.57 | 0.700 | 0 | |||||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.020 | < 0.001 | 2 | 2012 | 2018 | |||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.020 | < 0.001 | 2 | 2007 | 2013 | |||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | < 0.001 | 2 | 2008 | 2013 | ||||
|
16 | 0.708 | 0.360 | 6 | 52185555 | upstream gene variant | A/G | snv | 0.64 | 0.020 | < 0.001 | 2 | 2015 | 2017 | ||||
|
3 | 0.882 | 0.200 | 2 | 186628015 | intron variant | G/A | snv | 0.62 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 12 | 8138526 | 3 prime UTR variant | T/G | snv | 0.25 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
5 | 0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 1 | 167479867 | intron variant | A/G | snv | 0.54 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 31333042 | intron variant | T/C | snv | 5.3E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.240 | 12 | 1787714 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 136062506 | regulatory region variant | C/T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 33879687 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
10 | 0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 2 | 8803081 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 |