| 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 | 1.000 | 0.080 | 4 | 33716198 | regulatory region variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.200 | 12 | 102394036 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 115949755 | downstream gene variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 53900959 | intergenic variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |