| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 7 | 121367195 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121354619 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121350783 | intron variant | C/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121390854 | intron variant | GGGGGGGGGGGGGGGG/-;G;GG;GGG;GGGG;GGGGG;GGGGGG;GGGGGGG;GGGGGGGG;GGGGGGGGG;GGGGGGGGGG;GGGGGGGGGGG;GGGGGGGGGGGG;GGGGGGGGGGGGG;GGGGGGGGGGGGGG;GGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGGGG | delins | 5.6E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 7 | 121358223 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 121390853 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 7 | 121391825 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121390854 | intron variant | GGGGGGGGGGGGGGGG/-;G;GG;GGG;GGGG;GGGGG;GGGGGG;GGGGGGG;GGGGGGGG;GGGGGGGGG;GGGGGGGGGG;GGGGGGGGGGG;GGGGGGGGGGGG;GGGGGGGGGGGGG;GGGGGGGGGGGGGG;GGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGGGG | delins | 5.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 7 | 121390854 | intron variant | GGGGGGGGGGGGGGGG/-;G;GG;GGG;GGGG;GGGGG;GGGGGG;GGGGGGG;GGGGGGGG;GGGGGGGGG;GGGGGGGGGG;GGGGGGGGGGG;GGGGGGGGGGGG;GGGGGGGGGGGGG;GGGGGGGGGGGGGG;GGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGGG;GGGGGGGGGGGGGGGGGGG | delins | 5.9E-04 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 7 | 121385448 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 7 | 121393067 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 7 | 121378803 | intron variant | A/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 7 | 121378525 | intron variant | C/A;T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 |