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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 0.500 | 2 | 2010 | 2014 | |||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.020 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 20 | 63696914 | missense variant | C/G;T | snv | 0.25 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
3 | 0.882 | 0.120 | 13 | 32398747 | missense variant | A/G | snv | 2.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 19 | 6669923 | synonymous variant | G/A | snv | 0.19 | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 20 | 763738 | missense variant | G/A;C | snv | 0.10; 1.2E-05 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
32 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 20 | 763664 | missense variant | T/C | snv | 0.10 | 9.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.827 | 0.360 | 12 | 111766623 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
34 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.807 | 0.280 | 10 | 87966988 | 3 prime UTR variant | T/C | snv | 0.33 | 0.050 | 1.000 | 5 | 2012 | 2020 | ||||
|
5 | 0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 | 0.720 | 1.000 | 3 | 2012 | 2019 | ||||
|
11 | 0.790 | 0.240 | 10 | 87945672 | non coding transcript exon variant | G/C | snv | 0.39 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 94171330 | missense variant | G/A;T | snv | 3.2E-05; 0.17 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
25 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
6 | 0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 10 | 94328109 | 3 prime UTR variant | G/C | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 10 | 93993019 | regulatory region variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 |