| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.580 | 0.393 | 3 | 179218303 | missense variant | G/A,C | snp | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.734 | 0.214 | 3 | 52227015 | intron variant | A/G | snp | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.744 | 0.357 | 3 | 52222681 | synonymous variant | C/A,G,T | snp | 2.0E-05; 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.071 | 7 | 55163734 | G/A | snp | 8.0E-06 | 6.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |