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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.900 | 0.945 | 55 | 2007 | 2019 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.890 | 0.938 | 16 | 2007 | 2019 | ||||
|
14 | 0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 | 0.830 | 0.889 | 9 | 2008 | 2019 | ||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.720 | 1.000 | 3 | 2008 | 2015 | ||||
|
10 | 0.776 | 0.080 | 8 | 127402647 | intron variant | T/C | snv | 0.59 | 0.710 | 1.000 | 2 | 2012 | 2019 | ||||
|
6 | 0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.790 | 0.080 | 8 | 127398703 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
8 | 0.827 | 0.160 | 8 | 127082911 | non coding transcript exon variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 8 | 127021159 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 8 | 127208416 | non coding transcript exon variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 127401984 | non coding transcript exon variant | GA/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 |