| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
5 | 5 | 1284020 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
15 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |