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 | 0.925 | 0.120 | 1 | 94531732 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 2 | 53555422 | intron variant | C/T | snv | 4.4E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 17 | 48923631 | intron variant | -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG | delins | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 187446788 | intron variant | T/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 0.925 | 0.160 | 12 | 117323735 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 7982766 | intron variant | G/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.925 | 0.120 | 1 | 7940737 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.120 | 2 | 9956965 | intron variant | G/T | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 1 | 56497149 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 13 | 30734192 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.160 | 15 | 67166301 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 18477656 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 10 | 69458890 | intron variant | G/C | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 10 | 48703312 | intron variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
10 | 0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 6 | 12292295 | intron variant | G/A | snv | 5.6E-02 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 |