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 | 20 | 58831332 | intron variant | -/A | delins | 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 68583439 | intron variant | -/A | delins | 7.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 24833715 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 118939742 | intron variant | -/A | delins | 1.6E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 35293938 | intron variant | -/A;AA | delins | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 100052239 | intron variant | -/AA | ins | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 38318057 | intergenic variant | -/AAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 35557937 | downstream gene variant | -/AAATAAT;AAT;AATTAAT | delins | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 78423112 | intron variant | -/AATTAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 37038415 | intron variant | -/ATGT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 19 | 10281703 | intron variant | -/C | delins | 7.6E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 88979517 | intron variant | -/C | ins | 2.0E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 13 | 50657252 | intron variant | -/C | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 132790397 | intron variant | -/C | delins | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 69732152 | intron variant | -/C;CAAAAAC | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 171857638 | downstream gene variant | -/C;CC | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 3979970 | intron variant | -/CT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 22 | 38211527 | intron variant | -/G | delins | 0.58 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 49539610 | intron variant | -/G | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 15 | 98639695 | intergenic variant | -/GAG | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 55888743 | intron variant | -/GCATACATACGT;GCGT;GCGTACATACATACGT;GCGTACATACCT;GCGTACATACGT | delins | 2.0E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 120856876 | intron variant | -/T | delins | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 124024877 | downstream gene variant | -/T | delins | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 4269579 | intron variant | -/T | ins | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 141386279 | downstream gene variant | -/T | ins | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 |