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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.080 | 14 | 68536271 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
11 | 0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
8 | 0.807 | 0.240 | 20 | 54169534 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
9 | 0.790 | 0.160 | 20 | 54171474 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
12 | 0.752 | 0.200 | 20 | 54164552 | synonymous variant | C/T | snv | 0.12 | 8.9E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
10 | 0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 15 | 32700910 | downstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
25 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.080 | 20 | 6718948 | regulatory region variant | T/G | snv | 0.28 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 6 | 35601785 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 14 | 58722643 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 20 | 62357358 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 15 | 32864185 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 20 | 50440951 | intergenic variant | C/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 11 | 111286111 | 3 prime UTR variant | T/C | snv | 0.72 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 3 | 40873748 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 13 | 73075014 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
19 | 0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 6 | 55847326 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 17 | 83104098 | upstream gene variant | A/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 15 | 67884824 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.320 | 12 | 25225627 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |