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 | 12 | 128816149 | intron variant | C/T | snv | 9.1E-02 | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||
|
3 | 0.882 | 0.200 | 12 | 128814840 | synonymous variant | G/A | snv | 0.13 | 9.1E-02 | 0.720 | 1.000 | 3 | 2010 | 2016 | |||
|
1 | 1.000 | 0.080 | 12 | 128794319 | synonymous variant | A/G | snv | 0.44 | 0.43 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||
|
1 | 1.000 | 0.080 | 12 | 128804645 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 128809788 | non coding transcript exon variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 128802211 | intron variant | G/A | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 128793662 | 3 prime UTR variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 128794774 | intron variant | T/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 128808163 | intron variant | A/T | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 128821576 | intron variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2016 | 2016 |