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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 5 | 135107916 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
6 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
8 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
6 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 0.810 | 1.000 | 3 | 2009 | 2017 | ||||
|
8 | 0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
4 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.810 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 41271752 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
7 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||
|
6 | 0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 96290263 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
6 | 0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
4 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 16 | 23853269 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
4 | 1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2017 | |||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
7 | 0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
6 | 0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
7 | 0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2015 | 2016 |