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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 16 | 31182621 | synonymous variant | C/A;G;T | snv | 0.32; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.360 | 12 | 117268082 | synonymous variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 17 | 44351420 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 17 | 44350481 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 1 | 11018836 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 27658555 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 20 | 4699336 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 17 | 44349267 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 16 | 31185175 | missense variant | A/G | snv | 8.4E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | X | 56564910 | missense variant | C/G | snv | 2.2E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
4 | 0.851 | 0.120 | 17 | 44350293 | missense variant | T/C | snv | 1.8E-04 | 1.1E-04 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 12 | 17567834 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 9 | 34256349 | synonymous variant | C/T | snv | 0.40 | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 9 | 33256181 | intron variant | T/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 0.040 | 0.750 | 4 | 2009 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 31183958 | synonymous variant | C/T | snv | 0.53 | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 |