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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 | 0.040 | 0.750 | 4 | 2012 | 2016 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 | 0.030 | 1.000 | 3 | 2011 | 2016 | ||||
|
19 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
14 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 3 | 120421014 | intron variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 46332637 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 2 | 112782628 | intron variant | G/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10148783 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |