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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 4 | 3274764 | downstream gene variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 6 | 27332531 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 22 | 25763322 | missense variant | G/A;C | snv | 0.55 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.120 | 6 | 26133388 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 6 | 32064966 | missense variant | G/A;C | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.120 | 18 | 55543071 | intron variant | G/T | snv | 0.88 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 11 | 65793149 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 7 | 133363002 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.080 | 10 | 124737579 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 10 | 113120583 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 17 | 39405360 | 3 prime UTR variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 11 | 86158695 | regulatory region variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 4 | 65630452 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 17 | 7459769 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.080 | 6 | 126383649 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 8 | 142228143 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 10 | 12353101 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 69322799 | intergenic variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 |