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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291989 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 19 | 46292921 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291810 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291914 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46288677 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 19 | 46294033 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46294038 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293976 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291277 | intergenic variant | -/T | delins | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 117772549 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 19 | 19259532 | intron variant | AGAC/-;AGACAGAC | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 19 | 46291852 | intergenic variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 19 | 46296578 | upstream gene variant | G/T | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46292627 | upstream gene variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46292776 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293161 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293245 | upstream gene variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293510 | upstream gene variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293511 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293937 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46282441 | regulatory region variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 |