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 | 12 | 114367252 | intron variant | -/AAAGAAAAGAGAAA;AGAAA | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 12 | 114369230 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 12 | 114362169 | intron variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 54276945 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 3 | 38582762 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 38579746 | intron variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 3 | 38730434 | intron variant | C/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 14 | 23396676 | intron variant | G/A;C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 111894722 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
13 | 1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 2 | 46314037 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 7 | 116549322 | intron variant | C/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 116550543 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 113467664 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 12789276 | upstream gene variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 45801977 | intergenic variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 |