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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
175 | 0.463 | 0.714 | 6 | 26092913 | missense variant | G/A | snp | 3.3E-02 | 3.8E-02 | 0.100 | 0.895 | 19 | 2000 | 2015 | |||
|
55 | 0.590 | 0.536 | 22 | 43928847 | missense variant | C/G | snp | 0.28 | 0.22 | 0.100 | 0.882 | 17 | 2011 | 2018 | |||
|
152 | 0.475 | 0.679 | 6 | 26090951 | missense variant | C/G | snp | 0.11 | 9.9E-02 | 0.080 | 0.875 | 8 | 2001 | 2005 | |||
|
47 | 0.608 | 0.500 | 19 | 39248147 | intron variant | C/T | snp | 0.38 | 0.050 | 0.800 | 5 | 2011 | 2017 | ||||
|
16 | 0.707 | 0.179 | 4 | 109912954 | 5 prime UTR variant | A/G | snp | 0.50 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
4 | 0.846 | 0.143 | 22 | 31869917 | intron variant | T/G | snp | 0.37 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
14 | 0.744 | 0.179 | 17 | 7674216 | missense variant | C/A,G | snp | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
7 | 0.801 | 0.179 | 4 | 73870427 | intron variant | A/G | snp | 0.49 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
7 | 0.784 | 0.179 | 9 | 125238840 | intron variant | C/T | snp | 9.1E-02 | 0.11 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||
|
81 | 0.536 | 0.643 | 6 | 159692840 | missense variant | A/G | snp | 0.48 | 0.47 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
146 | 0.465 | 0.750 | 9 | 117713024 | missense variant | A/G,T | snp | 6.1E-02; 4.0E-06 | 6.7E-02 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
2 | 0.923 | 0.071 | 4 | 73455883 | 3 prime UTR variant | A/G | snp | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
21 | 0.685 | 0.321 | 20 | 3213196 | missense variant | C/A,G | snp | 7.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.923 | 0.071 | 17 | 64500552 | missense variant | A/C | snp | 5.4E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
19 | 0.699 | 0.286 | 12 | 52904798 | missense variant | C/A | snp | 4.9E-03 | 5.1E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.923 | 0.071 | 19 | 49644795 | intron variant | G/A | snp | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.846 | 0.143 | 12 | 53991163 | intron variant | A/C | snp | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.878 | 0.143 | 16 | 30751140 | stop gained | C/T | snp | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
100 | 0.510 | 0.679 | 11 | 67585218 | missense variant | A/G | snp | 0.34 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
20 | 0.679 | 0.500 | 19 | 10284116 | missense variant | G/A | snp | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
18 | 0.685 | 0.393 | 6 | 26090957 | missense variant | A/T | snp | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
16 | 0.707 | 0.179 | 2 | 168973818 | missense variant | A/C,G,T | snp | 0.57 | 0.57 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.878 | 0.107 | 12 | 94834510 | non coding transcript exon variant | G/C | snp | 9.7E-02 | 6.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.923 | 0.071 | 4 | 73445127 | splice region variant | A/G,T | snp | 0.54 | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.846 | 0.143 | 11 | 117220893 | non coding transcript exon variant | G/A,C | snp | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 |