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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.850 | 1.000 | 9 | 2011 | 2019 | ||||
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.880 | 1.000 | 9 | 2011 | 2020 | |||||
|
3 | 0.925 | 0.040 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 | 0.820 | 0.500 | 4 | 2012 | 2017 | |||
|
3 | 0.925 | 0.040 | 7 | 40426601 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 39215694 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 3 | 2013 | 2016 | ||||
|
3 | 0.925 | 0.040 | 8 | 88535703 | intron variant | C/T | snv | 0.23 | 0.720 | 0.667 | 3 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.040 | 9 | 116490350 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 6 | 96412478 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
6 | 0.827 | 0.200 | 11 | 27702228 | intron variant | T/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 153491449 | intron variant | G/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1 | 156486509 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 11 | 10652497 | intron variant | C/G | snv | 0.78 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 18 | 9590436 | intron variant | G/C | snv | 0.36 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||||
|
4 | 0.925 | 0.120 | 7 | 151009827 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
2 | 1.000 | 0.040 | 7 | 73710933 | intron variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 3159033 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 2 | 132469969 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 102212877 | intron variant | T/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 |