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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.080 | 2 | 218394547 | non coding transcript exon variant | G/A | snv | 0.51 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.160 | 2 | 218387907 | synonymous variant | C/T | snv | 7.0E-02 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 2 | 218384290 | missense variant | C/T | snv | 0.23 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |