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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 10506215 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 16 | 53790314 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 632922 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 160269067 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 69328516 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 74621799 | regulatory region variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 8 | 36995695 | regulatory region variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 40487595 | intron variant | C/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 151754327 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 8 | 36984537 | downstream gene variant | -/CTTTCTTTCT | delins | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.080 | 22 | 40382227 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 22 | 40601107 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 151628447 | intergenic variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 |