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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 1929314 | missense variant | T/G | snv | 5.4E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 3 | 187911715 | intergenic variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 1909425 | missense variant | G/A | snv | 3.1E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 4 | 126757231 | intergenic variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 53861434 | non coding transcript exon variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 4 | 65332086 | synonymous variant | C/A;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 14 | 39374915 | intron variant | A/G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 8 | 1885635 | missense variant | G/C;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 |