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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.900 | 0.957 | 23 | 2009 | 2020 | ||||
|
1 | 1.000 | 0.040 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 | 0.890 | 1.000 | 10 | 2009 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.760 | 0.571 | 7 | 2005 | 2018 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.750 | 1.000 | 6 | 2010 | 2019 | ||||
|
4 | 0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.730 | 0.750 | 4 | 2002 | 2016 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
4 | 0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 80028675 | intron variant | C/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2016 | |||||
|
6 | 0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
4 | 0.851 | 0.160 | 6 | 30490287 | missense variant | G/A;T | snv | 0.54 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
2 | 0.925 | 0.080 | 2 | 102047167 | intron variant | T/C;G | snv | 0.810 | 1.000 | 2 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 14722332 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 96790605 | missense variant | A/G;T | snv | 0.62 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
13 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
11 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
11 | 0.752 | 0.360 | 12 | 6342424 | upstream gene variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
5 | 0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 4 | 87661983 | missense variant | A/G;T | snv | 4.0E-06; 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 208349547 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 9 | 5556786 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 |