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 | 4 | 105166665 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 16366444 | intron variant | G/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 9736166 | upstream gene variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32615369 | regulatory region variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 181121038 | intron variant | A/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 22165584 | regulatory region variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 82622126 | upstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | X | 3737519 | intergenic variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 28230987 | intergenic variant | T/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 12725831 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 4 | 38450959 | intron variant | G/A;C | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 101267901 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 31141768 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.925 | 0.120 | 6 | 31272944 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 8 | 128000328 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 9 | 120922814 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 39932526 | intergenic variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 16466180 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 13837498 | non coding transcript exon variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 12 | 6393666 | upstream gene variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 13978399 | intron variant | ACACACAC/-;AC;ACAC;ACACAC;ACACACACAC;ACACACACACAC | delins | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 89295870 | intron variant | ATGTG/- | delins | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 24916129 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 9757536 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 |