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 | 0.827 | 0.160 | 6 | 32690533 | TF binding site variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.807 | 0.360 | 6 | 32721752 | downstream gene variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 6 | 33685334 | intron variant | T/A;C | snv | 0.92 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 36407527 | intron variant | G/A | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.925 | 0.080 | 6 | 32373621 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 6 | 126377573 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.200 | 6 | 32338313 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 159103590 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 2 | 65368452 | intron variant | G/A;T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 97571204 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 35803475 | intron variant | C/A;T | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 32768367 | upstream gene variant | T/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.160 | 6 | 32146738 | downstream gene variant | A/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 5 | 40437846 | regulatory region variant | C/T | snv | 0.60 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 1 | 172893094 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 178431544 | 3 prime UTR variant | T/C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 1221162 | intron variant | C/T | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 122077921 | splice region variant | G/A | snv | 7.0E-02 | 0.820 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.120 | 6 | 32747006 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 6 | 32744607 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 6 | 32744470 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 6 | 32744327 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 6 | 32722250 | downstream gene variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 6 | 32721726 | downstream gene variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2007 | 2007 |