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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 5 | 2012 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 119501087 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 7 | 2011 | 2019 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.810 | 1.000 | 3 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 11 | 111404408 | intron variant | G/A | snv | 0.56 | 0.810 | 1.000 | 2 | 2012 | 2017 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.800 | 1.000 | 5 | 2009 | 2015 | ||||
|
9 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 5 | 2010 | 2017 | ||||
|
6 | 0.807 | 0.360 | 6 | 32689801 | TF binding site variant | T/C | snv | 0.40 | 0.800 | 1.000 | 4 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 102631552 | 3 prime UTR variant | C/A;T | snv | 0.800 | 1.000 | 3 | 2011 | 2015 | |||||
|
3 | 0.882 | 0.200 | 16 | 11093926 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||
|
9 | 0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2015 | |||
|
2 | 0.925 | 0.080 | 19 | 50423485 | intron variant | A/G | snv | 0.62 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 160028076 | intron variant | T/C | snv | 0.29 | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.800 | 1.000 | 3 | 2011 | 2017 | |||
|
4 | 0.851 | 0.200 | 14 | 68286876 | intron variant | C/T | snv | 0.57 | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||
|
4 | 0.851 | 0.200 | 3 | 16913767 | intron variant | G/A | snv | 0.35 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.080 | 14 | 103100448 | missense variant | C/T | snv | 0.22 | 0.20 | 0.800 | 1.000 | 2 | 2011 | 2015 | |||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.800 | 1.000 | 2 | 2012 | 2015 | |||
|
2 | 0.925 | 0.120 | 2 | 191078546 | intron variant | A/T | snv | 3.6E-02 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 119431242 | 3 prime UTR variant | A/G | snv | 0.15 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 190679236 | intron variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2011 | 2015 | |||||
|
4 | 0.851 | 0.240 | 1 | 67356694 | intron variant | A/G | snv | 0.61 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 30206869 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 159992311 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
6 | 0.851 | 0.200 | 11 | 118873063 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.080 | 3 | 160011091 | intron variant | T/G | snv | 0.36 | 0.800 | 1.000 | 2 | 2009 | 2010 |