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 | 1.000 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 1294548 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 11 | 66063028 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 41224579 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 21 | 29773850 | intron variant | A/C;G | snv | 0.810 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
30 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
17 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |