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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.776 | 0.440 | 6 | 31973120 | non coding transcript exon variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 0.925 | 0.120 | 5 | 159405269 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
23 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 202691803 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 30911859 | non coding transcript exon variant | C/T | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 31781365 | non coding transcript exon variant | G/A | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 6 | 28835514 | downstream gene variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.790 | 0.320 | 6 | 29388554 | intron variant | A/G | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 0.925 | 0.160 | 6 | 32712293 | regulatory region variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 230313189 | 3 prime UTR variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 |