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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 3 | 128597592 | intergenic variant | A/G | snv | 0.13 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||||
|
2 | 11 | 128315955 | regulatory region variant | G/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
8 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
6 | 0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 12 | 4209557 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 128587914 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 14 | 75509305 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 19 | 16316300 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 5 | 148820448 | upstream gene variant | T/C | snv | 0.59 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 6 | 107122949 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 1 | 87286317 | intergenic variant | A/T | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 9 | 90004338 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 116868761 | intergenic variant | G/A | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 157664393 | intergenic variant | C/T | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 61476184 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 124813204 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 20502242 | intergenic variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 39711776 | downstream gene variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 150052058 | intergenic variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 55180855 | intergenic variant | T/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 43866494 | intergenic variant | T/A | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 8735729 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 61541105 | upstream gene variant | ATATT/-;ATATTATATT | delins | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 0.080 | 10 | 8553876 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |