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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
2 | 0.882 | 0.160 | 8 | 127308101 | intron variant | A/G | snv | 0.15 | 0.720 | 1.000 | 2 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.080 | 21 | 31664502 | intron variant | AGA/- | delins | 0.13 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.925 | 0.080 | 6 | 41568689 | intron variant | C/T | snv | 0.35 | 0.720 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.080 | 11 | 76463778 | intron variant | A/G | snv | 8.0E-04 | 4.7E-04 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
47 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
18 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.080 | 5 | 6635478 | intron variant | G/C | snv | 0.53 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.882 | 0.160 | 10 | 125008303 | intron variant | T/C | snv | 0.23 | 0.720 | 1.000 | 2 | 2008 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 170226312 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
9 | 0.790 | 0.160 | 20 | 54171474 | intron variant | A/G | snv | 0.36 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
15 | 0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
5 | 0.882 | 0.120 | 8 | 125255388 | intron variant | T/G | snv | 0.48 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
5 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.720 | 0.667 | 2 | 2009 | 2014 | ||||
|
10 | 0.790 | 0.160 | 5 | 1282204 | intron variant | C/A | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
19 | 0.716 | 0.320 | 7 | 116554174 | intron variant | T/A | snv | 0.27 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.720 | 1.000 | 2 | 2008 | 2014 | ||||
|
79 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
80 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
40 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 2 | 38080719 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 |