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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 16 | 68259417 | synonymous variant | T/C | snv | 0.19 | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19954390 | intron variant | T/C | snv | 0.17 | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.925 | 0.160 | 1 | 109272258 | intron variant | C/T | snv | 0.17 | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.040 | 16 | 67991092 | intron variant | G/A | snv | 0.17 | 0.17 | 0.700 | 1.000 | 3 | 2008 | 2012 | |||
|
5 | 0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
3 | 8 | 19965319 | 3 prime UTR variant | G/A | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 9 | 104889245 | intron variant | A/G | snv | 0.14 | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 8 | 19960925 | missense variant | C/A;T | snv | 0.13; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
11 | 1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.807 | 0.240 | 16 | 56899607 | missense variant | G/A | snv | 0.11 | 8.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 16 | 56867019 | intron variant | C/T | snv | 0.10 | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 1.000 | 0.080 | 8 | 19953276 | intron variant | C/A | snv | 9.8E-02 | 8.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
2 | 16 | 67174030 | synonymous variant | C/G;T | snv | 8.4E-02 | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 1.000 | 0.040 | 11 | 116763146 | missense variant | G/A | snv | 7.8E-02 | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 11 | 116791615 | synonymous variant | G/T | snv | 7.7E-02 | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 16 | 56973280 | intron variant | T/C | snv | 5.9E-02 | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 16 | 56961322 | upstream gene variant | C/A | snv | 5.2E-02 | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 | 0.700 | 1.000 | 4 | 2008 | 2014 | |||
|
5 | 1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 2 | 2010 | 2013 |