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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 0.830 | 1.000 | 5 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.120 | 10 | 69485520 | intron variant | T/C | snv | 8.5E-02 | 0.710 | 0.800 | 5 | 2015 | 2020 | ||||
|
16 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 0.820 | 1.000 | 4 | 2011 | 2019 | |||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.800 | 1.000 | 4 | 2011 | 2016 | |||||
|
3 | 0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
4 | 1 | 169522317 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||
|
3 | 4 | 186277851 | intron variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2019 | |||||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.800 | 1.000 | 3 | 2011 | 2019 | |||||
|
18 | 0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2011 | 2013 | |||||
|
2 | 4 | 186266415 | intron variant | G/A | snv | 0.34 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||||
|
2 | 1 | 169544768 | intron variant | A/G | snv | 0.92 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169459706 | intron variant | C/T | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169454860 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169327626 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
3 | 16 | 81837364 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169165889 | intron variant | A/C | snv | 5.5E-02 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 169521154 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 207108804 | intron variant | C/A;G | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 11 | 46739206 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 4 | 186266940 | intron variant | T/G | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 8 | 105578478 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
10 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 |