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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 17 | 39709435 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.120 | 2 | 47403074 | 5 prime UTR variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.120 | 16 | 52567188 | intron variant | T/A | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 10 | 121580918 | intron variant | C/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 7 | 130982362 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 20 | 56390288 | intron variant | T/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.120 | 6 | 149287738 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 |