| 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 | 1.000 | 12 | 123379073 | upstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11540277 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.776 | 0.080 | 3 | 169768720 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 6 | 152343404 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 22 | 40315223 | intron variant | -/T | delins | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11166852 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 1 | 248897507 | regulatory region variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | X | 70926548 | synonymous variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40158441 | intron variant | A/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 4677552 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 94580015 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 16 | 50114082 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 3 | 27321573 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 22 | 40263247 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 225196 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 45654814 | intergenic variant | C/G | snv | 2.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 232855 | intron variant | T/C | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 4 | 48374339 | intron variant | C/T | snv | 9.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 5306910 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 2 | 28110242 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 5 | 177027080 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 20 | 48132514 | intron variant | T/A | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 32346024 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 2 | 11961997 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 4 | 53684007 | intron variant | T/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |