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 | 9 | 5075628 | intron variant | C/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 112967228 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 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 | ||||||
|
3 | 1.000 | 0.080 | 5 | 111069301 | upstream gene variant | A/C | snv | 0.24 | 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 | 8 | 128993202 | intron variant | A/G | snv | 0.69 | 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 | ||||||
|
1 | 11 | 309127 | missense variant | A/C;G;T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 9 | 6532544 | 3 prime UTR variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 26320235 | missense variant | A/G | snv | 0.67 | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 11 | 27650705 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 0.882 | 0.160 | 12 | 111395984 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 12 | 89436943 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 24924339 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 10 | 8553876 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 10 | 63841301 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 16 | 88490472 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 |