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 | 8 | 6843366 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 8 | 11979005 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 16 | 85895099 | upstream gene variant | C/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 16 | 85976154 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 12 | 108327859 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 9 | 111158319 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 18 | 79712436 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 6671358 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 20 | 32603213 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 92550671 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 14 | 103368791 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 15 | 79930230 | downstream gene variant | T/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 18287220 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 2 | 136131638 | intergenic variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 71775534 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 8 | 115585182 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 3 | 46256882 | intron variant | G/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 65438139 | intron variant | G/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 8 | 129666460 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 22 | 43163445 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 46313128 | upstream gene variant | A/G | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 34886094 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 22 | 17105867 | missense variant | T/C | snv | 1.7E-03 | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 92287779 | intron variant | T/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 16 | 85968988 | intron variant | TAATAA/-;TAA;TAATAATAA;TAATAATAATAA;TAATAATAATAATAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 |