| 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 | 7 | 41352852 | intergenic variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 4 | 22794376 | intron variant | G/A | snv | 7.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 3 | 112859611 | intergenic variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 42205558 | intron variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 20 | 46719767 | intron variant | C/A | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 124761403 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 19 | 48019433 | intron variant | T/- | del | 1.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 22 | 17685512 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 99392036 | intron variant | G/C | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 140665410 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 6 | 136006932 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 14 | 105694756 | intergenic variant | AAGA/- | delins | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 25701740 | 3 prime UTR variant | T/-;TT;TTT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 168616598 | intron variant | A/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 12 | 117321510 | intron variant | A/T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 14 | 94328865 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 |