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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.958 | 24 | 2010 | 2019 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2003 | 2006 | |||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.020 | 1.000 | 2 | 2002 | 2013 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 1.000 | 11 | 2010 | 2019 | ||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.030 | 1.000 | 3 | 2014 | 2016 | |||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 1.000 | 10 | 1999 | 2015 | |||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
19 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 10284771 | intron variant | G/A | snv | 7.8E-03 | 3.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 |