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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 0.710 | 1.000 | 2 | 2009 | 2015 | ||||
|
6 | 0.925 | 0.040 | 22 | 36862461 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2008 | 2015 | |||||
|
6 | 0.851 | 0.200 | 5 | 177361569 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 16 | 11279463 | intron variant | C/T | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
6 | 0.827 | 0.120 | 20 | 63697746 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 80494291 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
8 | 0.790 | 0.200 | 8 | 128554935 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 65440138 | intron variant | C/A | snv | 0.78 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
4 | 0.882 | 0.080 | 3 | 119814886 | intron variant | G/A;T | snv | 0.46 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
6 | 0.827 | 0.120 | 5 | 142133639 | intron variant | A/T | snv | 0.67 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||
|
2 | 1.000 | 0.040 | 12 | 68106295 | intron variant | G/A | snv | 0.32 | 0.810 | 1.000 | 2 | 2012 | 2020 | ||||
|
4 | 0.882 | 0.080 | 21 | 44195858 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
10 | 0.790 | 0.080 | 15 | 90629669 | intron variant | C/T | snv | 0.12 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 172884320 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 4 | 122240464 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.040 | 8 | 125522429 | intron variant | A/G | snv | 0.48 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 2 | 28391927 | intron variant | C/T | snv | 0.38 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 13 | 99304368 | intron variant | T/C | snv | 0.16 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
1 | 22 | 30174033 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 5 | 130768383 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 5 | 73222321 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.882 | 0.080 | 5 | 139383837 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 |