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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 15 | 61190958 | intron variant | G/T | snv | 0.96 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.040 | 6 | 35685660 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 7 | 30655345 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 6 | 35633999 | intron variant | A/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.520 | 9 | 6254208 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 3 | 20135980 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.080 | 11 | 113420866 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 8 | 27578983 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 |