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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 12 | 87334666 | intergenic variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 2 | 231433365 | downstream gene variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 3 | 180949777 | intron variant | C/G;T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 3 | 181080939 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 3 | 58120049 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 3 | 181063312 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 8 | 133766099 | regulatory region variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 5 | 81110747 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 16 | 80071969 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.040 | 21 | 42202157 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 13 | 25433839 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |