| 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 | 8 | 41708865 | synonymous variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.851 | 0.080 | 9 | 34637693 | missense variant | T/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 |